Spotters in Pediatrics

Spotters in
Pediatrics
SUBASH/NMC15-1393
SUBASH/NMC15-1393
Spotters in
Pediatrics
Editor-in-Chief
Anoop Verma
MD FIAP FIAMS
Swapnil Nursing Home and Research Center

Civil Lines Raipur, CG 492001
Chapter Editors
Navneet Jain MS
Neurology
Sanjay Sharma DM (PGI Chandigarh)
Consultant Neurologist
Modern Medical Institute, Lalpur, Raipur, CG
Laparoscopy Surgeon
Ramkinker Medical Institute
Purani Basti, Raipur, CG
Neonatology
Ramesh Bhatt MD
Infectious Diseases
Ashok Gupta MD FIAP
Associate Professor
Dept. of Pediatrics, KMC, Manipal
Associate Professor Pediatrics

SMS Medical College, Jaipur
Pediatric Surgery
Pulak Parag MS MCh (CMC Vellore)
Dermatology
Arun Agrawal MD FIAP FIAMS
Pediatric Surgeon
Consultant Pediatric Surgeon, Raipur, CG
Chandra Laxmi Hospital

Ghaziabad, UP
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SUBASH/NMC15-1393
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Spotters in Pediatrics
2008 Anoop Verma
All rights reserved. No part of this publication should be reproduced, stored in a retrieval system, or transmitted in
any form or by any means: electronic, mechanical, photocopying, recording, or otherwise, without the prior
written permission of the editor and the publisher.
This book has been published in good faith that the material provided by contributors is original. Every effort is
made to ensure accuracy of material, but the publisher, printer and editor will not be held responsible for any
inadvertent error(s). In case of any dispute, all legal matters are to be settled under Delhi jurisdiction only.
First Edition : 2008

ISBN : 978-81-8448-249-2
Typeset at
Printed at
JPBMP typesetting unit

Replica Press
SUBASH/NMC15-1393
To
My grandfather late Dr GP Shrivastava, MRCP,
DTMH, from whom I imbibed the interest in
clinical medicine and zeal to remain updated in
officepractice.
My father late Dr BBL Verma and mother
late Suman Lata Verma from whom I learned to
aim high and follow the path of voice within.
My wife Rashmi, daughter Swapnil and son
Shantanu and my whole family are my energy
pillars, and my confidence
SUBASH/NMC15-1393
SUBASH/NMC15-1393
Contributors
Agrawal Anju
Department of Pediatrics
UCMS and GTB Hospital
Shahdara, Delhi
Agrawal Arun, MD FIAP
Chandra Laxmi Hospital
Ghaziabad, UP
Agrawal Ashwani, DCH
Pediatrician and Neonatologist
Gudhiari, Raipur, CG
Agrawal Sanjay, MD
Mungeli, Bilaspur
Bansal CP, MD FIAP
Shabda Pratap Nursing Home
Gwalior, MP
Barua Ankur
Assistant Professor
Department of Community
Medicine
Sikkim Manipal Institute of
Medical College
Gangtok, Sikkim
Batra Prerna
Ascociate Professor
Department Pediatrics
Mahatma Gandhi Institute of
Medical Sciences
Sewagram, Wardha
Budhwani KS, MCh

Professor and Head
Department of Pediatric Surgery
Gandhi Medical College
Bhopal, MP
Chatterjee Pallabh
Consulting Pediatricians
Kolkata
Chawda Arun
Pediatrician
Fafdeh, Raipur, CG
Faridi MMA
Professor Pediatrics
Shahdara, Delhi
Gupta Ashok
Associate Professor Pediatrics
SMS Medical College, Jaipur
Gupta Vinay, MS
Surgeon / Andrologist
Bilaspur, CG
Gurudatta HS, MD
Mahasamund
Hariramani Suresh, MD
Children Hospital
Tilda
Bhatt Ramesh
Associate Professor
KMC, Manipal
Jain Karuna, MD
Laparoscopic and Obstetric
Surgeon
Raminker Hospital, Purani Basti
Raipur, CG
Bopardikar Ranjan
Pediatrician
Sparsh Children Hospital
Bhilai, CG
Jain Navneet, MS
Laparoscopy Surgeon
Ramkinker Medical Institute
Purani Basti, Raipur, CG
Jain Nirved, MCh

Plastic and Cosmetic Surgeon
Jeevan Memorial Hospital
New Shanti Nagar, Raipur, CG
Jain Vijay, MD, FIAP
Consulting Pediatrician
Gaya, Bihar
Kalda Sunil, MCh
Cosmetic Surgeon
Kalda Nursing Home, GE Road
Raipur, CG
Khanduja MK, MD, DCH
Pediatrician
Nehru Nagar, Bhilai, CG
Khandwal Onkar, MD
Assistant Professor
Pt JNM Medical College, Raipur
Madharia Arun, MS
Orthopedic Surgeon
Gayatri Hospital, Raipur, CG
Madharia Nalini, MD
Laparoscopic and Obstetric
Surgeon
Aashirvad Hospital, Sunder Nagar
Raipur, CG
Mandric SK
Pediatrician
Science College Colony, Raipur
CG
Menghani Jagdish, MD
Katora Talab, Raipur, CG
Menghani Kavita, MD
Telebandha, Raipur, CG
Mukhopadhyay Sagori
JK Lon Hospital, SMS Medical
Hospital, Jaipur
SUBASH/NMC15-1393
viii
Nebhani Shyam, DCH
Nebhani Nursing Home
Ravigram, Raipur, CG
Pal Ranbir
Associate Professor
Department of Community
Medicine, Sikkim Manipal
Institute of Medical College
Gangtok, Sikkim
Pardal Rakesh, MD
Chief Medical Officer
Mahasamund
Patel GS, MD
Professor Pediatrics
Medical College, Indore, MP
Patel Jyotish, MD
Sickle Cell Anemia Foundation
Bardoli, DistrictSurat, India
Phulzhele NL
Head, Department of Pediatrics
Medical College, Raipur
Pulak Parag, MS, MCH
Pediatric Surgeon
Consultant Pediatric Surgeon
Raipur, CG
Purohit Alok, MD
Professor and Unit Head
JK Lon Hospital, Sawai Man
Singh (SMS) Hospital, Jaipur
Rathi ML, MD, DCH
Senior Pediatrician
Budhapara, Raipur, CG
Sharma Shayam
Resident Medical Officer
Swapnil Nursing Home, Raipur
Saha Abhijeet
Senior Lecturer in Pediatrics
Government Medical College and
Hospital, Chandigarh 160030
Shukla Lalit, MS
Shree Netralaya, Ashirwad Towers
Raipur, CG
Sahai KM, MD
KMS Hospital
Jaipur, Rajasthan
Saify Rubina, MD
Indrawati Colony, Raipur, CG
Sarbhai KP, MD
Sarbhai Nursing Home
Sunder Nagar, Raipur, CG
Savant AP
Senior Pediatrician
District Hospital, Durg, CG
Sethi Sidhartha Kumar
Shahdara, Delhi
Shadangi Lokesh, MD
District Hospital, Raigarh, CG
Sharma Sanjay, DM
Consultant Neurologist
Modern Medical Institute
Lalpur, Raipur, CG
Sur DK
Senior Pediatrician
Bayron Bazar, Raipur, CG
Tamer SK, DM
HOD
Department of Neurology, JNM
Institute, Bhilai, CG
Thakur Vasudev, MD
Bhatapara
Uttamani Naresh, MD, DNB
Civil Lines, Raipur, CG
Verma Amar
MD, DCH, PhD, WHO Fellow
Associate Professor
RIMS, Ranchi, Jharkhand
Yadu Shirish, MS
Consulting Surgeon
Modern Medical Institute, Lalpur
Raipur, CG
SUBASH/NMC15-1393
Foreword
Dear Dr Anoop Verma,
I congratulate you for an excellent work and here is my comment.
I am aware of your zest to capture images of patients including videos that I have myself
witnessed during your academic presentations at various conferences. I am sure one stores
what one sees more than what one just reads and that is how we learn better from patients
rather than mere textbooks. This compilation of large number of images would certainly help
all of us to memorise those conditions that in turn would help us to spot them quickly.
I appreciate your efforts to disseminate knowledge in unique way. I strongly recommend
for each one of us to make best use of such a ready reckoner. Short relevant text accompanying
the images is a bonus.
With regards and best of wishes
Prof. YK Amdekar (Retd)

Pediatrics Dept., JJ Hospital, Mumbai
Hon. Prof of Pediatrics, Jaslok Hospital, Mumbai
SUBASH/NMC15-1393
SUBASH/NMC15-1393
Foreword
Childhood illnesses constitute as major public health problem in many developing countries
including India. There are innumerable emerging and re-emerging diseases, genetic and metabolic
disorders and rare syndromes, which are extremely difficult to diagnose. A large number of these
diseases especially infectious if diagnosed early can save the lives of these babies. Genetic
disorders always remain an enigma and diagnostic dilemma to majority of clinicians. There are
innumerable dermatological conditions in children, which baffles the clinician.
Normal physiological conditions in the newborn are often regarded as pathological and
cause panics in the minds of the parents and some physicians. It is, therefore, important to
differentiate normal from abnormal conditions in the newborn. I earnestly appreciate the sincere
effort being done by Dr Anoop Verma in putting together excellent photographs of high quality
in the book Spotters in Pediatrics which would prove to be a useful readymade
armamentarium in the hands of Pediatricians and Physicians.
I have known Dr Verma as one of the most dynamic and hardworking pediatrician in the
country. He has excellent organizational capacity and in a short period of time attained various
important positions in Indian Academy of Pediatrics in both State and at National level. This
book will be an extremely useful guidebook for all clinicians. The book contains very useful
chapters of infectious diseases, neonatology, genetic and metabolic disorders, nephrology,
rare syndromes and dermatological conditions in children.
By bringing out this important book, Dr Verma has made significant contribution in the
field of Pediatrics bridging the gap of a near famine of relevant topics in this field. I am sure,
the book will find a place in the desktop of many clinicians in the country. I wish Dr Anoop
Verma all success in his further effort in this direction.
AK Dutta
Vice-Principal, Director Professor and HOD, Pediatrics
Kalawati Saran Childrens Hospital
Lady Hardinge Medical College
New Delhi
SUBASH/NMC15-1393
SUBASH/NMC15-1393
Foreword
It is a matter of great privilege and pride for me to learn about the launching of the publication
Spotters in Pediatrics by Dr Anoop Verma, ex-National Vice-President of IAP. The field of
pediatrics has tremendously expanded in the last decade with expertise in various sub-specialties.
In addition the recent advances in the field of perinatology, newborn care, molecular biology,
drug therapy, genetics and emerging-reemerging infection have added new dimensions in the
understanding the childhood problems for the practicing pediatrician. Thus, it has become
necessary for the medical professional to update himself with the recent know-how in the field
of newborn and childhood diseases from the diagnostic and management point of view. This
book is an excellent collection of clinical photographs of common to rare pediatric diseases
along with short text for ready reference. It will definitely prove to be a guiding source of
knowledge for the busy practicing pediatrician and will serve as ready reckoner. I would like
to congratulate Dr Anoop Verma for this innovative academic venture.
With personal regards and best wishes
Uday Bodhankar
Deputy Secretary General CAMHADD UK
International Council Member ASPR Japan
Chairman ICMCH and INSPCAN India
Hon. Prof. of Pediatrics IGMC Nagpur
Past President IAP / ISTP / SCM IPA
Ramdaspeth, Nagpur 440012 MS, INDIA
Ph: (R) 0091- 712- 2425020 / 2445554
(H) 0091 -712- 2459090 / 2422505
FAX : 0091- 712- 2428145 / 2421017
Email : ubodhankar@hotmail.com
SUBASH/NMC15-1393
SUBASH/NMC15-1393
Foreword
One of the essential requirements of scientific progress and research is correct documentation
of facts. In western countries scientific data and observation were meticulously recorded and
stored. Out of 2.1 billion children below first year of life, the 3/4th are in developing countries,
have very high under-five mortality.
Pediatrician in India has contributed a lot in reducing infant mortality and in various
childhood illnesses. Contributions of Indians in world literature are still below expectation.
Spotters in Pediatrics by Dr Anoop Verma will fill this gap to great extent.
Dr Anoop Verma is very hard working and sincere pediatrician with a habit of recording
observations, which has given rise to this monograph for which he deserves great compliments.
Spotters in Pediatrics should find its place in bookshelf of practicing pediatricians, graduates
in pediatrics and general practitioners. It should stimulate them for good record and for bringing
more books like this in future.
Padmashree AT Dabke MD PhD

Dean, Professor and Head (Rtd)
Pt JNM Medical College, Raipur
SUBASH/NMC15-1393
SUBASH/NMC15-1393
Preface
Pediatrics is a fascinating branch, not because we deal with innocent patients but because we
draw conclusions from what parents say and what we assess in examination of patient. It is
more or less a role of detective. To become a good detective it is not only to read the text
thoroughly but also to memorise and search the abnormalities.
A picture is worth a thousand words, and a video is worth a thousand pictures. I cannot
define an elephant unless I have seen one. A glimpse of clinical condition is sufficient to
repercuss your brain later, when you come across similar condition in future.
The art of making diagnosis by gestalt is not inherited; it needs repeated practice mixed
with interest in it. The more you see a condition, the more you go through the text, less is the
chance, the condition is escaped your recognition. Experience is not one day job, it is gradual
building of memory of variety of cases you come across over the years.
It is an old saying you are never late in medical practice. The journey to this fascinating
subject can begin at any point of time, provided you have constant zeal and persistent interest
in this subject. In clinical practice we must wear the spectacle of astute clinical observer and
behave like assiduous and prolific recorder of observation.
The syndromic child is most of the time considered a gift of God and hence, further treatment
by parents comes to an end. It is on the part of treating physician to counsel such parents and
make them aware of the condition and accordingly encourage future course of disease and its
inheritance. There are certain conditions which have strong possibility and probability to recur
in future generation, on the contrary, there are conditions which almost occurs once (sporadic
mutation).The concept of counseling should spread to all parents of such children. Rarely do
we find parents who are concerned of their childs disease and its course.
The usefulness of a clinical atlas in medicine is known since ages. The present shape of
Spotters in Pediatrics is the result of years of devotion and hard work. With its classified and
authoritative format this atlas supplies the answer to question that may arise during examination
or consultation, giving advice on symptoms, diagnosis and therapeutic measures.
We hope that the detailed but concise information given in this atlas will prove of value to
students and experienced practitioners alike.
Anoop Verma
SUBASH/NMC15-1393
Acknowledgements
Ones body may be handsome,
wife beautiful, fame excellent and varied,
and wealth like unto Mount Meru;
but if ones mind be not attached
to the lotus feet of Guru,
what thence, what thence, what thence ?
Adi Shankara
Guruvastakam, Verse 1
In my development as a pediatrician, apart from my destiny, there was huge share of my
devoted teachers, who have virtually paved my way to clinical pediatrics. My deep regards
and respect to my teachers Late Prof DS Dave, Prof NG Prasan, Padmashree Prof AT Dabke
and Prof Ashok Rawat. I have got great encouragement and blessings from stalwarts in pediatrics
Prof YK Amdekar, Prof AK Dutta, Prof Uday Bodhankar, Prof HP Singh. From my core of
heart I convey my sincere gratitude to them.
I convey my thanks to our inspirational National President of IAP 2007 Dr Naveen Thacker,
who virtually introduced me to publisher, and given me the initial push.
I am indebted to our past National Presidents Dr Raju Shah and Dr Nitin Shah for keeping
me on track by their able guidance.
My hearty thanks to my chapter editors Sanjay Sharma, Pulak Parag, Navneet Jain, Arun
Agrawal, Ashok Gupta and Ramesh Bhatt. Their infectious interest has virtually lessened my
workload.
To come up with plethora of clinical photographs is not easy task, but due to important
contributions from contributors. I convey my deep sense of regards to the contributors of this
book.
A sense of deep regards to my colleagues at Chhattisgarh and my friends, namely DK Sur,
ML Rathi, KP Sarbhai, Vijay Makhija, Ashwani Agrawal, SK Mandrik, KW Deoras, Pradeep
Sihare, Rakesh Sahu, Madhu Shree Deshpande, Ashok Mehta and Lokesh Shadangi their
powerful support, encouragement and guidance has always lifted my morale. I am indebt to all
of them.
My due regards to M/s Jaypee Brothers Medical Publishers (P) Ltd., especially Shree Tarun
Duneja, General Manager, (Publishing), for his interest and support.
Last but not the least, my wonderful colleague and friend Shyam Sharma, who has kept me
free to complete this life time work.
Lastly, I am overwhelmed to convey my gratitude to my whole family Sudhir, Nalini,
Manoj, Aarti, Soumiya, Anuj and Siddhi for creating encouraging milieu favorable to this
work.
SUBASH/NMC15-1393
Contents
CHAPTER 1 INFECTIOUS DISEASES ------------------------------------------------------ (114)
Measles ---------------------------------------------------------------------------------------------------- 1
Mumps ----------------------------------------------------------------------------------------------------- 3
Chickenpox ----------------------------------------------------------------------------------------------- 4
Molluscum contagiosum -------------------------------------------------------------------------------- 7
Warts (Verrucae) ----------------------------------------------------------------------------------------- 7
Tubercular lymphadenopathy --------------------------------------------------------------------------- 8
Scrofuloderma -------------------------------------------------------------------------------------------- 9
Lupus vulgaris -------------------------------------------------------------------------------------------- 9
Tetanus ----------------------------------------------------------------------------------------------------- 9
Tetanus neonatorum ----------------------------------------------------------------------------------- 10
Kawasaki disease ----------------------------------------------------------------------------------------11
Hydatid disease ------------------------------------------------------------------------------------------11
Ascaris lumbricoides ---------------------------------------------------------------------------------- 12
Herpes zoster ------------------------------------------------------------------------------------------- 13
CHAPTER 2 DERMATOLOGY --------------------------------------------------------------- (1544)
Atopic dermatitis --------------------------------------------------------------------------------------- 15
Alopecia ------------------------------------------------------------------------------------------------- 16
Stevens-Johnson syndrome --------------------------------------------------------------------------- 18
Toxic epidermal necrolysis --------------------------------------------------------------------------- 20
Henoch-Schnlein purpura --------------------------------------------------------------------------- 20
Seborrheic dermatitis ---------------------------------------------------------------------------------- 22
Hemangioma and vascular malformation ----------------------------------------------------------- 23
Cutis marmorata telangiectatica congenita --------------------------------------------------------- 25
Nevus of Ota -------------------------------------------------------------------------------------------- 25
Epidermolysis bullosa --------------------------------------------------------------------------------- 26
Acrodermatitis enteropathica ------------------------------------------------------------------------- 27
Scabies --------------------------------------------------------------------------------------------------- 28
Head lice ------------------------------------------------------------------------------------------------ 30
Psoriasis ------------------------------------------------------------------------------------------------- 31
Collodion baby ----------------------------------------------------------------------------------------- 32
Harlequin fetus ----------------------------------------------------------------------------------------- 33
Ichthyosis vulgaris ------------------------------------------------------------------------------------- 34
Cutis laxa ------------------------------------------------------------------------------------------------ 35
Scleroderma --------------------------------------------------------------------------------------------- 36
Tinea corporis ------------------------------------------------------------------------------------------- 37
Urticaria ------------------------------------------------------------------------------------------------ `38
Dermatographism -------------------------------------------------------------------------------------- 39
Dermatofibroma ---------------------------------------------------------------------------------------- 40
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Congenital melanocytic nevus -----------------------------------------------------------------------Juvenile xanthogranuloma ---------------------------------------------------------------------------Ectodermal dysplasia ---------------------------------------------------------------------------------Hypomelanosis of Ito ----------------------------------------------------------------------------------
40
42
42
43
CHAPTER 3 NEONATOLOGY ----------------------------------------------------------- (4570)

Erythema toxicum -------------------------------------------------------------------------------------- 45
Mongolian spot ----------------------------------------------------------------------------------------- 46
Salmon patch ------------------------------------------------------------------------------------------- 46
Milia ----------------------------------------------------------------------------------------------------- 47
Junctional nevus ---------------------------------------------------------------------------------------- 47
Cutis marmorata ---------------------------------------------------------------------------------------- 48
Cephalohematoma ------------------------------------------------------------------------------------- 48
Mastitis neonatorum ----------------------------------------------------------------------------------- 50
Supernumerary nipples -------------------------------------------------------------------------------- 51
Neonatal teeth ------------------------------------------------------------------------------------------ 51
Neonatal hymenal tags -------------------------------------------------------------------------------- 51
Neonatal vaginal bleed -------------------------------------------------------------------------------- 51
Sternocleidomastoid tumor --------------------------------------------------------------------------- 52
Milia crystalline ---------------------------------------------------------------------------------------- 52
Miliaria rubra ------------------------------------------------------------------------------------------- 53
Acne neonatorum -------------------------------------------------------------------------------------- 53
Bullous impetigo --------------------------------------------------------------------------------------- 54
Baby of diabetic mother ------------------------------------------------------------------------------- 54
Beckwith-Wiedeman syndrome ---------------------------------------------------------------------- 56
Asymmetric crying facies ----------------------------------------------------------------------------- 57
Amniotic band ------------------------------------------------------------------------------------------ 58
Congenital syphilis ------------------------------------------------------------------------------------- 60
Oral thrush ---------------------------------------------------------------------------------------------- 60
Single umbilical artery -------------------------------------------------------------------------------- 60
Birth trauma --------------------------------------------------------------------------------------------- 62
Erb-Duchenne palsy ----------------------------------------------------------------------------------- 63
Hemorrhagic disease of newborn -------------------------------------------------------------------- 64
Twin to twin transfusion------------------------------------------------------------------------------- 65
Nonimmune hydrops ---------------------------------------------------------------------------------- 66
Epignathus ---------------------------------------------------------------------------------------------- 67
Sacrococcygeal teratoma ------------------------------------------------------------------------------ 68
Ophthalmia neonatorum ------------------------------------------------------------------------------- 68
Ear abnormality ---------------------------------------------------------------------------------------- 69
CHAPTER 4 ENDOCRINOLOGY ------------------------------------------------------------ (7180)
Gynecomastia ------------------------------------------------------------------------------------------- 71
Idiopathic precocious puberty ------------------------------------------------------------------------ 72
Cushings syndrome ----------------------------------------------------------------------------------- 73
Congenital hypothyroidism --------------------------------------------------------------------------- 74
Micropenis ---------------------------------------------------------------------------------------------- 77
Ambiguous genitalis ----------------------------------------------------------------------------------- 78
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Contents
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CHAPTER 5 PEDIATRIC SURGERY ------------------------------------------------------ (81136)

Abscess -------------------------------------------------------------------------------------------------- 81
Thyroglossal duct cyst --------------------------------------------------------------------------------- 82
Dermoid cyst -------------------------------------------------------------------------------------------- 83
Cystic hygroma ----------------------------------------------------------------------------------------- 84
Preauricular sinus -------------------------------------------------------------------------------------- 85
Cleft lip and cleft palate ------------------------------------------------------------------------------- 87
Inguinal hernia ------------------------------------------------------------------------------------------ 88
Umbilical hernia ---------------------------------------------------------------------------------------- 89
Lumbar hernia ------------------------------------------------------------------------------------------ 90
Omphalocele -------------------------------------------------------------------------------------------- 91
Gastroschisis -------------------------------------------------------------------------------------------- 92
Achalasia cardia ---------------------------------------------------------------------------------------- 94
Infantile hypertrophic pyloric stenosis -------------------------------------------------------------- 95
Duodenal atresia and stenosis ------------------------------------------------------------------------ 97
Disorders of rotation and fixation of intestine ------------------------------------------------------ 99
Pneumoperitoneum in newborn --------------------------------------------------------------------- 102
Intussusception ---------------------------------------------------------------------------------------- 104
Hirschsprungs disease ------------------------------------------------------------------------------- 105
Anorectal malformations ----------------------------------------------------------------------------- 108
Rectal prolapse ---------------------------------------------------------------------------------------- 110
Congenital diaphragmatic hernia -------------------------------------------------------------------- 111
Eventration of diaphragm ---------------------------------------------------------------------------- 114
Phimosis ------------------------------------------------------------------------------------------------ 115
Paraphimosis ------------------------------------------------------------------------------------------- 116
Labial adhesion ---------------------------------------------------------------------------------------- 116
Hair-tourniquet syndrome ---------------------------------------------------------------------------- 117
Vesicoureteral reflux ---------------------------------------------------------------------------------- 119
Posterior urethral valve ------------------------------------------------------------------------------- 121
Bladder exstrophyepispadias --------------------------------------------------------------------- 123
Rhabdomyosarcoma ---------------------------------------------------------------------------------- 125
Conjoint twins ----------------------------------------------------------------------------------------- 128
Empyema thoracis ------------------------------------------------------------------------------------- 132
CHAPTER 6 BONE DISORDERS ---------------------------------------------------------- (137149)
Rickets -------------------------------------------------------------------------------------------------- 137
Scurvy -------------------------------------------------------------------------------------------------- 139
Osteogenesis imperfecta ------------------------------------------------------------------------------ 141
Congenital club foot ---------------------------------------------------------------------------------- 143
Digital abnormalities ---------------------------------------------------------------------------------- 144
Polydactyly --------------------------------------------------------------------------------------------- 144
Syndactyly --------------------------------------------------------------------------------------------- 145
Brachydactyly ----------------------------------------------------------------------------------------- 145
Ectrodactyly (Lobster-Claw defect) ---------------------------------------------------------------- 146
Multiple cartilaginous exostosis --------------------------------------------------------------------- 147
Greenstick fracture ------------------------------------------------------------------------------------ 147
Congenital scoliosis ----------------------------------------------------------------------------------- 148
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CHAPTER 7 NEUROLOGY ----------------------------------------------------------------- (150178)

Neurofibromatosis ------------------------------------------------------------------------------------ 151
Tuberous sclerosis ------------------------------------------------------------------------------------- 153
Sturge-Weber syndrome ------------------------------------------------------------------------------ 155
Ataxia telangiectasia ---------------------------------------------------------------------------------- 156
Parry-Romberg syndrome ---------------------------------------------------------------------------- 157
Cutis verticis gyrata ----------------------------------------------------------------------------------- 157
Klippel-Trenaunay-Weber syndrome --------------------------------------------------------------- 158
Waardenburg syndrome ------------------------------------------------------------------------------ 159
Neurocysticercosis ------------------------------------------------------------------------------------ 159
Bells palsy ---------------------------------------------------------------------------------------------- 161
Marcus Gunn phenomenon -------------------------------------------------------------------------- 162
Myasthenia gravis ------------------------------------------------------------------------------------- 163
Retts syndrome --------------------------------------------------------------------------------------- 164
Angelman syndrome ---------------------------------------------------------------------------------- 166
Duchenne muscular dystrophy ---------------------------------------------------------------------- 167
Neural tube defect ------------------------------------------------------------------------------------- 168
Spina bifida -------------------------------------------------------------------------------------------- 168
Sincipital meningoencephalocele ------------------------------------------------------------------- 170
Anencephaly ------------------------------------------------------------------------------------------- 171
Iniencephaly ------------------------------------------------------------------------------------------- 172
Microcephaly ------------------------------------------------------------------------------------------ 172
Agenesis of corpus callosum ------------------------------------------------------------------------ 173
Lissencephaly ------------------------------------------------------------------------------------------ 174
Joubert syndrome ------------------------------------------------------------------------------------- 175
Large head (macrocephaly) -------------------------------------------------------------------------- 176
Phenytoin-induced gingival overgrowth ----------------------------------------------------------- 177
Drug induced dystonia ------------------------------------------------------------------------------- 177
CHAPTER 8 GENETIC ----------------------------------------------------------------------- (179219)
Down syndrome --------------------------------------------------------------------------------------- 179
Edwards syndrome ----------------------------------------------------------------------------------- 181
Pataus syndrome -------------------------------------------------------------------------------------- 182
Saldino-Noonan syndrome --------------------------------------------------------------------------- 183
Majewski dysplasia ----------------------------------------------------------------------------------- 184
Thanatophoric dysplasia ----------------------------------------------------------------------------- 185
Achondrogenesis -------------------------------------------------------------------------------------- 186
Asphyxiating thoracic dysplasia -------------------------------------------------------------------- 188
Achondroplasia ---------------------------------------------------------------------------------------- 189
Turners syndrome ------------------------------------------------------------------------------------ 191
Noonans syndrome ----------------------------------------------------------------------------------- 193
Marphans syndrome --------------------------------------------------------------------------------- 194
Robin anomalad --------------------------------------------------------------------------------------- 195
Albinism ------------------------------------------------------------------------------------------------ 196
Hurlers syndrome ------------------------------------------------------------------------------------ 197
Morquios syndrome ---------------------------------------------------------------------------------- 198
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Contents
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Progeria ------------------------------------------------------------------------------------------------- 199

Goldenhar syndrome ---------------------------------------------------------------------------------- 200
Meckel-Gruber syndrome ---------------------------------------------------------------------------- 201
Charge syndrome -------------------------------------------------------------------------------------- 202
Aperts syndrome ------------------------------------------------------------------------------------- 203
Disorganization-like syndrome ---------------------------------------------------------------------- 204
Kabuki make-up syndrome -------------------------------------------------------------------------- 205
Lesch-Nyhan syndrome ------------------------------------------------------------------------------ 205
Poland sequence --------------------------------------------------------------------------------------- 206
Osteopetrosis ------------------------------------------------------------------------------------------- 207
Potter syndrome --------------------------------------------------------------------------------------- 207
Fibular hemimelia ------------------------------------------------------------------------------------- 208
Proboscis lateralis ------------------------------------------------------------------------------------- 208
Bardet-Biedl syndrome ------------------------------------------------------------------------------- 209
Vater syndrome ---------------------------------------------------------------------------------------- 210
Blepharophimosis syndrome ------------------------------------------------------------------------ 211
Milroy-Hereditary lymphedema --------------------------------------------------------------------- 211
Macrodystrophia lipomatosa ------------------------------------------------------------------------ 212
MRKH syndrome ------------------------------------------------------------------------------------- 212
Genetic counseling ------------------------------------------------------------------------------------ 215
CHAPTER 9 MISCELLANEOUS CONDITIONS -------------------------------------- (220240)
Tetralogy of Fallot ------------------------------------------------------------------------------------ 220
Congenital ptosis -------------------------------------------------------------------------------------- 223
Congenital cataract ------------------------------------------------------------------------------------ 223
Periorbital cellulitis ----------------------------------------------------------------------------------- 223
Rhinosporidiosis--------------------------------------------------------------------------------------- 224
Vitamin A deficiency --------------------------------------------------------------------------------- 225
Geographic tongue ------------------------------------------------------------------------------------ 226
Fissured tongue ---------------------------------------------------------------------------------------- 226
Foreign body nose ------------------------------------------------------------------------------------ 227
Ingested foreign body -------------------------------------------------------------------------------- 227
Foreign body aspiration ------------------------------------------------------------------------------ 228
Palatal perforation ------------------------------------------------------------------------------------- 229
Extravasation injury ---------------------------------------------------------------------------------- 230
Intraosseous transfusion ------------------------------------------------------------------------------ 233
Sickle cell disease ------------------------------------------------------------------------------------- 234
Index ---------------------------------------------------------------------------------------------------- 241
SUBASH/NMC15-1393
SUBASH/NMC15-1393
Chapter
Infectious Diseases
MEASLES (Figs 1.1 to 1.3)

DEFINITION
Measles (derived from Latin misellus meaning miserable) is a highly contagious viral disease
sometime called as rubeola (Latin rubeolus = reddish) or morbilli (Latin morbus = disease).
It is caused by an RNA virus called as paramyxovirus.
Human is the only known natural host for the measles virus. There is no natural animal
reservoir of the virus, although monkeys can be infected following human contact.1
CLINICAL FEATURE
Its incubation period ranges from 10 to 12 days. It is most infectious during the early
prodromal phase of the disease when large quantities of virus are present in nasopharynx
secretion and rashes have yet to develop.
It is characterized by (3C), Cough, Coryza and Conjunctivitis. The exanthem of the disease
is erythemetous papule (Morbilliform) is a significant feature of eruption. It starts along
hairline and proceeds downward. Peak eruption occurs at third day coincides with peak of
the fever and constitutional symptom. Rashes resolves by 5th and 8th day, later branny
desquamation as brown staining of skin follows.
Enathem: Koplicks spot seen 2 days before and 2 days after the rash seen opposite lower
molar. It is white popular dots on an erythematous buccal mucosa looks like Salt grain
sprinkled on a red background. A transverse line of conjunctival inflammation sharply
demarcates along the eyelid margin called as Stibsons line.
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Fig. 1.1: A 6-year-old patient Fig. 1.2: Morbilliform rashes

presented with cough, coryza,
fever, photo-phobia and
classical rash
Fig. 1.3: Conjunctivitis with peculiar rash
COMPLICATIONS
Complications of Measles is mainly respiratory, e.g. Otitis media, Pneumonias (Interstitial
pneumonia and secondary bacterial pneumonia), Laryngotracheal bronchitis. NeurologicalFebrile seizures, SSPE, Encephalitis. Miscarriages, premature births and congenital
malformations have been occasionally associated with measles.2 Other complications are
diarrhea, hepatitis, appendicitis, corneal ulceration, and myocarditis.
Subacute Sclerosing Pan Encephalitis (SSPE) is chronic measles encephalitis, having 8
years average age of onset. As a rule past infection of measles at early stage is always there
before the age of two years. It presents as personality change and declining school
performance. Fundus examination at early stage shows pigmentary changes in the macula.
Myoclonic seizures usually develops next, classical EEG changes are evident in the form of
periodic burst of spike and wave complexes (approximately 5 to 7 seconds). Later there is
rapid neurological deterioration to spasticity, dementia and involuntary movement develops
and later dementia supervenes. Anti measles antibody in csf is usually positive. Intraventricular
alpha interferon gives some improvement in few cases. Prognosis is usually poor.
TREATMENT
Is always supportive. Bed rest, antipyretics and adequate fluid intake are indicated. Isolate
from non-immune children until five days after the rash has appeared.
Pulmonary complications are usually due to secondary bacterial infections and has to be
treated by antibiotics.
Currently UNICEF and WHO3,4 has recommended vitamin A supplementation to all cases of
measles in developing country. Children 6 months-old to 1 year-old: 100,000 IU by mouth
as a single dose, repeated the next day and again at 4 weeks. Children 1 year-old or older:
200,000 IU as a single dose, repeated the next day and again at 4 weeks.
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Infectious Diseases
PREVENTION5
Measles vaccine is given at age of 9 months, subcutaneously on the upper arm or anterolateral
thigh. It can be given even at 6 months in measles outbreaks. This vaccine is a live attenuated
virus vaccine, it results in actual infection and multiplication in the body, which mimics
actual infection of measles but is usually asymptomatic. Point of precaution while
reconstitution of multidose measles vaccine is to maintain strict asepsis has, since there is
no antibacterial contents in the vial, some cases of staphylococcal sepsis/toxic shock
syndrome is seen.
MMR vaccine is recommended to all children by IAPCOI. For infants given measles vaccine
at 9 to 12 months MMR vaccine is given between 15 and 18 months. If measles vaccine
was missed altogether then one dose of MMR vaccine is given at or after 12 months.
MUMPS (Figs 1.4 and 1.5)

DEFINITION
Mumps (from an old English word meaning Grimace) or endemic parotitis is an acute
infectious disease marked by a painful enlargement of one or both parotid salivary gland.
RNA virus of genus paramyxovirus causes it.
CLINICAL FEATURE
Clinical feature is characterized by pain and swelling in one or both parotid glands. The
gland fill the gap between posterior border of mandible and mastoid and then extends
downward and forward. The swelling pushes earlobe upward and outwards and the angle
of mandible is no longer visible. The swelling subsides within 3 to 7 days.
The swelling is painful and tender especially elicited by tasting sore liquid such as lemon
juice. There is redness and swelling in the opening of stensons duct. In severe cases swelling
and edema may approach manubrium and upper chest because of lymphatic obstruction.
It is estimated that 20 to 40 percent of infection results in no symptoms, 40 to 50 percent is
nonspecific symptoms and in only 30 to 40 percent in typical acute parotitis.6
Diagnosis is usually clinical. Elevated serum amylase, IgM and IgG Ab against mumps virus
are detectable and lastly viral culture.
COMPLICATION
Meningo encephalitis is most common, occurs in 5 to 15 percent6 cases. Ten percent of
these cases seen over 20 yrs, mortality from this condition accounts to 2 percent.
Orchitis and epididymitisless commonly seen in preadolescent boys, it accounts to 15-35
percent in adolescent boys. Orchitis follows parotitis after 8 days. It can occur without
parotitis. Abrupt onset, fever with chills and rigors, nausea and vomiting, lower abdominal
pain. Right testis is often involved. Infertility is rarely seen with bilateral involvement.
Pancreatitis: There is abdominal pain, persistent vomiting and fever. The pain is epigastric
and steady, often resulting in the child assuming antalgic position with hips and knees
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Fig. 1.4: Enlarge parotid gland
Fig. 1.5: Two brothers suffering from mumps

(Beware of spread of infection to unprotected ones)
flexed, sitting upright, or lying on the side. The serum amylase is typically elevated for up 4
days. Ultrasonography and CT scan have major role in diagnosis. Other complication
includesoophoritis, myocarditis, arthritis, thyroiditis, deafness.
Recurrent parotitis: It is common to notice recurrent idiopathic enlargement of parotid
gland. It is unilateral but can involve other side also. It produces mild pain and usually lasts
2 to 3 weeks. Commonly notice in spring. It starts at age of 6 years and persists for many
years. Congenital or autoimmune defects of the duct are presumed to be the cause of
recurrence. Each episode last for few days to 2 weeks before spontaneous resolution occurs.
TREATMENT
Treatment is always symptomatic: Antipyretics/ acetaminophen/ibuprofen. Bed rest, diet.
Local warm or cold pack in the region of swelling. Good oral hygiene.
Isolation of patient till swelling persists. The period of infectivity is 7 days before and 9 days
after the onset of parotitis.
Sialogogue agents (vitamin C, lemon chewing gums). It is said it drain the saliva and prevents
stagnation and later secondary infection. Sore items induces pain in parotid if it is
discomforting to patient it can better avoided.
Antibiotic if ascending infection from mouth is suspected.
Orchitis should be treated by local support and bed rest. Mumps arthritis is treated with
NSAID/Corticosteroid.
Pancreatitis: Pain relief, fluid and electrolyte balance to be maintained. Nil orally till serum
amylase returns to normal and clinical symptoms has resolved.
PREVENTION7
Mumps vaccine is given as component of MMR vaccine given between 15 and 18 months.
CHICKENPOX (Figs 1.6 and 1.7)

DEFINITION
Varicella is highly contagious exanthemetous illness caused by varicella zooster virus, a
member of herpes virus group.
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Infectious Diseases
Fig. 1.6: Neonate with chickenpox
Fig. 1.7: Chickenpox rashes
Primary infection occurs by circulating virus in the nasopharynx through droplet inoculation.
Local replication occurs here leading to viremia and dissemination by circulating mononuclear
cells.
It is highly contagious 1 to 2 days before and shortly after onset of rash, but lesion are
infectious until they have turned into dried crusts.
CLINICAL FEATURES
Its incubation period is 14 to 16 days. The disease is characterized by mild fever and
constitutional symptoms in children.
The rashes appear as crops and acquire a characteristic centripetal distribution (more lesion
are found on torso than on face and extremities). It rapidly progresses from red macule to
vesicle, pustule and crusts within 3 to 4 days. The rash produces intense itching. Lesion is
also seen in scalp and mucous membrane. The classical lesion is a vesicle surrounded by
erythematous base described as a dew drop on rose petal.
Varicella is most severe above 13 years.
The vesicles get secondarily infected by beta hemolyticus Streptococcus (GBHS) may result
into streptococcal toxic shock syndrome, necrotising fasciitis Figs 1.8A and B, or purpura
fulminance.
Apart from other complication acute cerebellar ataxia is common, but is transient and may
improve of own.
Immunity following chickenpox is life long and hence, it doesnt recur, but the virus may
persists in the dorsal root ganglia after an acute infection and may get reactivated to cause
shingles or herpes zooster. Its involvement is always unilateral dermatomal distribution and
stops in the midline.
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B
Figs 1.8A and B: (A) Necrotizing fasciitis (B) Spread of secondary bacterial
infection leading to extensive necrotizing fasciitis
TREATMENT
In healthy children varicella is a benign, self-limiting disease with low rate of complication.
It usually requires symptomatic treatment.
Analgesics/antipyretics/local soothing agents and antibiotics if secondary infection is
suspected. Aspirin should not be used to avoid Reyes syndrome.
Acyclovir is recommended for normal individual 13 years and above and for immunocompromised host. Acyclovir in dose of 20 mg/kg/dose 4 times a day for 5 days within 24
hours of onset of skin lesion will reduce the severity of the disease.
In uncomplicated varicella, acyclovir is not recommended but on choice can be used to
modify the course of disease. Acyclovir doesnt hampers development of immunity against
varicella.
In complicated varicella like encephalitis and viral pneumonia, intravenous acyclovir (10 mg/
kg/dose 8 hrly) must be used. The treatment must be continued for 7 days or till no fresh
lesions appears for 48 hours which ever is later.
PREVENTION8
Active Immunization
Varicella vaccine (live attenuated).
IAPCOI opines that varicella vaccine is not recommended for universal immunization in
India at present. One has to emphasize the benign nature of and rarity of complications with
varicella in young children.
It may be offered to children of high socioeconomic status at 12 months to 12 years single
dose and for person over 12 years of age, two doses, 4 to 8 weeks apart.
Other indications are children with chronic heart and lung diseases, HIV infection ( but with
CD4 counts above 25% of age related norms), in leukemia (but in remission for at least 1
year), household contacts of immunocompromised children.
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Infectious Diseases
Passive Immoprophylaxis
Varicella zooster immunoglobulin (VZIG).

Given to susceptible at risk of developing severe varicella and in Immunocompromised
children.8 To neonates whose mother experienced onset of varicella 5 days, or less before
delivery or within 48 hours after delivery.
MOLLUSCUM CONTAGIOSUM (Fig. 1.9)

This is a skin infection caused by a poxvirus (DNA). It is a common infection in children.
It is transmitted by skin contact with an infected person.
The infection presents as small discrete, round, pearly-white
growths, with central umblication on the skin. There may
be single or multiple growths on the skin. These growths
are usually symptomless.
Common sites of infection are the eyelids, neck, trunk and
Fig. 1.9: Molluscum contagiosum
anogenital area.
Treatment- a) Trichloroacetic acid applications or b) Cryotherapy with liquid nitrogen
applications or c) Light electrosurgery, d) Tretinoin gel for small lesion, e) Manual curettage
of big lesions.
WARTS (VERRUCAE) (Figs 1.10A and B)

Warts are intraepidermal tumor of skin caused by human papilloma virus (HPV).
TYPES
Common wart (Verruca vulgaris): They are discrete flesh colored, single or multiple papules
with a rough surface more common in hands but may occur anywhere.
Flat wart (Verruca plana): They are grouped as flat topped, flesh colored or pigmented
papules with smooth surface, common on the face.
Anogenital wart (Condylomata accuminata): It is cauliflower like or pink filiform sessile
papule with rough surface. It can be acquired from birth canal or acquired from sexual
abuse.
Plantar wart.
Periungual wart.
TREATMENT
Conservative: No treatment spontaneous regression occurs within 2 years in most cases.
20 percent Podophylline is applied with a toothpick twice daily for 3 days. Podophylline is a
plant extract, is a microtubule inhibitor that blocks the cell division. In excess doses it is
neurotoxic and produces areflexic coma.
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Figs 1.10A and B: (A) Condylomata in 7 months old child (B) Venereal wart in an adolescent boy
Use of salicylic acid and lactic acid locally.

Tretinoin gel locally at night.
Oral cimetidine 30 mg/kg/day in three divided doses for 3 months.
TUBERCULAR LYMPHADENOPATHY (Figs 1.11A to C)

Cervical and mediastinal glands are affected most commonly, followed by axillary and inguinal:
in 5 percent more than one regional group is involved.
Significant constitutional disturbance and evidence of associated tuberculosis is lacking.
The lymph nodes are painless, initially mobile, and occasionally discharge through the skin
causing a Collar-stud abscess.
Diagnosis
Ziehl-Neelsen microscopy (positive in only 25% cases).
Histology revealing caseating granuloma.
Culture on Lowenstein-Jensen or Bactec media.
Figs 1.11A to C: Tubercular lymphadenopathy. (A) Large solitary cervical lymph node proved to be tubercular
on histopathological examination. (B) X-ray chest of the same patient depicting hilar adenopathy. (C) Scrufuloderma
over cervical region
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Infectious Diseases
Treatment and Prevention

Short course chemotherapy (as for Pulmonary TB).
Paradoxical enlargement as a result of hypersensitivity reaction occurs occasionally
during or even after completion of therapy.
Surgical excision is sometime necessary.
Prevention as for pulmonary tuberculosis.
Scrufuloderma (Fig. 1.11C) results from enlargement, cold abscess formation, and breakdown
of a lymph node, with extention to the overlying skin. Linear or serpiginous with dissecting
fistulas and subcutaneous tracts studded with soft nodule may develop. Spontaneous healing
may take years and eventually a cord like keloid scar results.
LUPUS VULGARIS (Figs 1.12A and B)

It is a rare chronic progressive form of tuberculosis of the skin that develop in an individual
with moderate to high degree of tubercular sensitivity induced by previous infection. It is due to
direct skin involvement from underlying joint and nodes. A solitary lesion consists of brownish
red, soft papule that has an apple-jelly color when examined by diascopy. Chronicity is
characteristic, and persistence and progression to plaque over many years are common.
Treatment consists of excision of small lesions and antitubercular drugs.
Figs 1.12A and B: Lupus vulgaris: (A) Lupus vulgaris in a nine-year-old boy. (B) Lupus vulgaris in different parts
of the body. Courtesy-Dr Ranbir Pal, Dr Ankur Barua, Dr Pradeep Barua, Sikkim Manipal Institute of Medical
Sciences
TETANUS (Figs 1.13A and B)

It is caused by C.tetani, which is a gram positive, spore forming anaerobic bacilli.
Although the incidence of tetanus is reducing due to wide coverage by vaccination, still
tetanus neonatorum cases are seen in India due to practice applying mud and cowdung over
cord.
From the contaminated wound the toxin tetanoplasmin travels proximally along the nerve to
nervous system. It produces tetanus by two mechanisms; by blocking acetylcholine release
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10
B
Fig. 1.13A and B: (A) Tetanus in grown-up child, note the facial expression
during the spasm (B) Spasm in neonate
at myoneural junction and by countering the inhibitory influence on muscle reflex arc. It
results in increased activity of lower motor neuron, which produces muscle rigidity and
spasm. Once fixed the toxin cannot be neutralized by antitoxin.
CLINICAL FEATURES
After an incubation period of 5 to 10 days painful stiff jaw muscle (trismus) appears followed
by difficulty in opening the mouth (Lock jaw). Stiffness spreads to neck, back, chest and
abdomen. This is rigid stage of the disease.
Intermittent painful contraction of the muscle then starts, the spasmodic stage. The spasm
causes grimacing of face (risus sardonicus), and arching of neck and back (opisthotonus).
Spasm of respiratory and laryngeal muscle causes respiratory failure.
TREATMENT
Ideally should be treated in intensive care.
Human Tetanus Immunoglobulin (TIG) 3000 to 6000 IU IM followed by debridement of the
wound. The role of ATS, i.e. antitetanus serum is now less important. It is only given when
TIG is not available. It is given 50,000 to 100,000 units half IM and half IV.
Benzyl penicillin IV or IM for 10 days to eradicate the existing foci of infection and stop
further toxin production.
Sedation by diazepam, but should be nursed in quit environment. Tracheostomy is indicated
in severe cases, to guard against the life threatening laryngeal spasm.
Prevention: Tetanus is prevented by immunizing children by DPT under the age of five and
by TT thereafter following the IAP immunizing schedule.
TETANUS NEONATORUM (Fig. 1.13B)
Tetanus neonatorum is potentially serious and fatal disease. It usually begins between 3 and
10 days. There is progressive difficulty in sucking, swallowing and excess crying is there.
The spasms and stiffness develops sometime opisthotonus posture is seen.
Prevention: It is prevented by immunizing pregnant mothers by two dose of tetanus toxoid
between 16 and 36 week of pregnancy and only one dose of TT in the subsequent pregnancy.
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Infectious Diseases
11
KAWASAKI DISEASE (Figs 1.14A to C)

The etiology of this condition is unknown. Search for an infective agent has so far proved
unsuccessful. It is claimed to be an abnormal immunological response to variety of microbial
agent including streptococci, rickettsiae, viruses and house dust mite. The greatest prevalence
is in Japan. It occurs predominantly in children below five years of age.
Clinical Features and Diagnosis
Five main features are recognized: fever for more than 5 days, non-purulent bilateral
conjunctivitis, reddened lips and oral mucosa, raw red tongue, erythema of limbs including
palms and soles, and edema may be present (later periungual or more generalized
desquamation occurs), cervical adenopathy.
Persistent leucocytosis, high erythrocytic sedimentation rate (ESR) or plasma viscosity
and thrombocytosis (2nd week onwards) are characteristic laboratory features.
Up to 20 percent of cases develops coronary aneurysm due to coronary arteritis during
later phase of illness.
Diagnosis and Treatment
Diagnosis is by clinical and laboratory features.
Other diseases have to be ruled out like scarlet fever, TSS, erythema multiforme, juvenile
stills.
IV Gamma globulin and aspirin during the early stage reduces the risk of coronary
aneurysm formation.
Prolong follow-up should be advised.
Prognosis: usually benign, about one percent of cases ends fatally, mostly from cardiac
complication.
Figs 1.14A to C: Kawasaki disease, note the exfoliation of palms

and soles. Photographs by Dr KM Sahai, Jaipur
HYDATID DISEASE (Figs 1.15A and B)

The dog is the definitive host of the small tapeworm Taenia echinococcus that produces
large number of eggs in the faeces, contaminating grass and infecting sheep, which are the
usual intermediate hosts. The cycle is completed by the ingestion of infected raw sheep
offal by dogs. Human becomes accidental intermediate host by close contact with dogs.
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12
B
Figs 1.15A and B: Hydatid disease. (A) Contrast CT scan showing multiple hydatid cyst.
(B) CT chest showing hydatid cyst in lungs
In humans, the ingested ova develop to form embryo worms, which penetrate the gut wall
and invade the tissues. Most of the embryos are destroyed, but one or more may survive
and become encysted, usually in the liver.
Usually there is single cyst, but in 30 percent cases there are multiple cysts, usually in single
organ. Cysts have been described in every organ but favored sites are liver, lungs, spleen,
brain, eyes, heart, bone and genitourinary system.
Hydatid cysts reach a diameter of 1 cm in 5 months and continue to grow as large as 35 cm
containing liters and Hydatid sand.
Clinical features: infection become manifest either because of expansion of cyst or by
rupture and release of the cyst contents. Clinically the cyst present as a palpable, slowly
growing liver tumor or as partially calcified lesion on chest X-ray. Large cysts in the liver
may rupture spontaneously, causing sudden pain, fever allergic rash and eosinophilia. Cysts
may calcify gradually with the death of all living worm tissue.
Diagnosis: Usually by radiography, ultrasongraphy and CT scan. Serological tests such as
indirect hemogglutination or ELISA can be of value but false negatives occur, particularly in
pulmonary disease and in children. The Casoni skin test is less reliable than serological test.
Treatment: Albendazole in three cycles of 28 days each may succeed in killing infective
cysts. Hepatic Hydatid cysts are very slow growing and may not require any treatment
unless large and causing compression. Operative removal of cyst under pre- and post
albendazole treatment regimen is the mainstay of therapy. Calcified cysts should be left
alone. Non-surgical aspiration of the cyst is dangerous and should be avoided.
ASCARIS LUMBRICOIDES (Figs 1.16A to C)

Ascaris lumbricoides is an intestinal round worm, and adult worm ranges from 20 to 35 cm
long and is as thick as a pencil, although the male tends to be small. They are particularly
more prevalent in condition of poor sanitation, with an individual patient harboring up to
1000 worms and mature female producing up to 20,000 eggs daily. The eggs need to
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Infectious Diseases
13
Figs 1.16A to C: Ascaris lumbricoides infestation. (A) Child harboring hundreds of roundworm (B) Adult
worm in stool. (C) Abdominal USG revealed multiple horizontal streaks depicting worm body
mature for 2 to 3 weeks in the soil. The spread is fecal-oral with an incubation period of 4
to 8 weeks.
The ingested embryonated eggs hatch in the duodenum and the larvae penetrates through
the wall into the blood or lymphatics. They are carried to the liver, heart and thence to
pulmonary circulation, here they penetrate through the capillaries into the alveoli. They then
ascend the bronchial tree, enter the esophagus and pass down to the small intestine. Here
they mature, mate and produces eggs 45 to 60 days after ingestion.
The only symptoms in majority are the excretion of worms or eggs in the stool. In the small
percentages of cases gastrointestinal or pulmonary symptoms may arise, probably related
to the number of eggs. Lofflers syndrome occurs when the larva migrates through the
lungs. Cough, wheezing and breathlessness are the most important common presenting
features. Heavy worm load in children may cause abdominal pain and features of intestinal
obstruction and failure to thrive.
Diagnosis is usually by passage of adult worm in stool, detection of ova in stool. Barium
meal examination, occasionally adult worm can be picked up in abdominal ultrasonogram.
Treatment consists of use of antihelminth drugs like albendazole, mebendazole, etc. No drug
is effective in pulmonary phase of infection.
HERPES ZOSTER (Figs 1.17A and B)

Zoster results from reactivation of latent VZV in a dorsal root or extramedullary cranial
nerve ganglion. The virus travels down the sensory nerve to the area of skin supplied by the
nerve and produces the typical skin lesion. Zoster in the very young children is probably
related to decreased CMI at the time of primary VZV infection.
Clinical features
Prodromal pain: it persists for 2 to 3 days.
Rashes initially red patches with vesicles progressing to pustule which scab and then
separate. New lesions continue to occur for 3 to 5 days. Scabbing and separation are
usually complete by 2 to 4 weeks. Single dermatome is usually involved, but lesion can
be seen extending to adjoining dermatome due to overlapping innervations.
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Figs 1.17A and B: Herpes zoster. (A) Note the red patche with vesicle over anterior and lateral chest.
(B) Note the same strip of vesicle on backside, the dermatomal distribution
Dorsolumbar dermatomes are most frequently involved followed by trigeminal, cervical

and sacral.
Acute phase paincommon during rash evolution.
Complication depend on site of vesicles - ranging from skin infection, ocular, neuralgia,
meningoencephalitis, Ramsay Hunt syndrome, cutaneous and visceral dissemination.
Treatment
Antiviral drugs (acyclovir, famiclovir,valaciclovir) shortens the duration of acute illness.
Analgesics
In PHN amitrytylene topical cool spray and transcutaneous nerve stimulation are often
helpful.
REFERENCES
1.
2.
3.
4.
5.
6.
7.
8.
Meyer HM et al. Am J.Dis. Child 1062; 103: 307.

Jes Persen CS et al. Acta Pediatri Scand 1977; 66: 376.
Measles: The urban Challenge, UNICEF NY. 1991.
WHO/UNICEF: Wkly Epidemiol Rew 1987; 62: 133.
IAP guide book on immunization 2004; 16-18.
CDC Data. Mumps surveillance Jan 1977, Dec 1982. US Dept of Health and Human Service 1984.
IAP guide book on immunization, 2004; 38.
IAP guide book on immunization, 2004; 25-26.
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Chapter
Dermatology
ATOPIC DERMATITIS (Figs 2.1A and B)

DEFINITION
Atopic dermatitis or eczema is an itchy, dry, hypersensitive skin disorder affecting many people.
It is common in children but can occur at any age. It is not infectious or contagious.
The exact cause of atopic eczema is unknown. It may be hereditary. The patient or some
family members may have other hypersensitive conditions like asthma or hay fever. Infections
like Staphylococcus aureus, herpes simplex virus help in flaring of the dermatitis.
The rash may appear red, wet and weepy or dry, thickened and scaly. Scratching often
aggravates the rash. The skin thickens and becomes darker. It is a chronic condition. It can
affect any part of the body, particularly the elbow bends, back of the knees and the neck.
Infantile Type (seen from 2 months to 2 years). Classically cheeks and shin are involved.
It produces intense itching, lesion is dry, erythematous, excoriated plaques may then become
lichenified and hyperpigmented. Spontaneous remission is common by 2 years.
Childhood TypeSeen above 5 years, seen at flexural area, neck, wrists antecubital and
popliteal areas.
PATHOGENESIS
There are two hypotheses:
1. Increased in cyclic AMP phosphodiesterase activity, and
2. Decrease in cell mediated immunity both of these are responsible in over activity of the
T-helper cell (TH2) subset of T-lymphocyte and thus, leads to significant inflammation.
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Figs 2.1A and B: (A) Atopic dermatitis. The lesions in childhood form are flexural in distribution as
contrast to infantile form where there is axillary involvement. (B) antecubital areas involvement
MANAGEMENT
1. Care of dry skin by taking brief bathing with mild soap, and patting (not rubbing) the dry
skin leaving moisture. Application of moisturizer or emollients after bath like hydrophilic
petroleum, etc.
2. Steroids: Mild steroids like hydrocortisone is applied over face and in infants. Moderate
potent steroid like (clobetasone butyrate 0.050%) for subacute lesion. The potent steroids
like betamethasone dipropionate 0.050 percent, flucinolone acetornide and mometasone for
chronic lesions.
3. Antibiotics are used for infected cases. Beta lactam antibiotics are best-suited drugs here for
at least 2 to 3 weeks.
4. Antihistamines: Hydroxyzine 1mg/kg/day at bed time double the usual dose. Other drugs
used are diphenhydramine, doxepin, loratidine, cetrizine.
ALOPECIA (Figs 2.2A and B)

DEFINITION
Hair loss, alopecia, is the result of changes in the hair follicle. If the changes are transient (as in
alopecia areata) and non destructive of the hair matrix, there is eventual regrowth. Condition
that causes destruction of the hair matrix (such as folliculitis decalvans or physical trauma) lead
to the formation of scars or atrophy resulting in permanent alopecia.
CLASSIFICATION
It is classified into two groups: Non-scarring alopecia usually divided into localised or diffuse,
and cicatricial or scarring alopecia.
THE HAIR CYCLE
To understand the pathogenesis of alopecia requires knowledge of the hair follicle cycle and its
role in disorders of the hair and scalp.
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17
Dermatology
Figs 2.2A and B: Alopecia. (A) Alopecia areata in a 2-year-old boy. (B) Tinea capitis.
Circumscribed area of hair loss without scalp change and hair broken off at the follicular orifice
Hair growth occurs in cycle.

Anagen phase (Growing phase): In this phase hair grows about 2 mm a week for 2 to 5 years
or longer. This is followed by short, involutional phase, the catagen phase. In this phase mitosis
ceases at the hair bulb and the matrix is enveloped by shortening outer root sheath.
Telogen phase: It is characterized by non-pigmented club hair. The new anagen hair pushes
out the old telogen hair, beginning the new cycle. The human scalp has approximately 100,000
hair follicles of which some 5 to 10 percent are in the telogen phase. Since the telogen phase
lasts for 3 months for each individual hair, the number of normally lost telogen hairs is 50 to 100
daily.
In acutely stressful events, such as birth, auto accidents, illness with high fever, and acute
psychiatric illness may results in a rapid conversion of growing hairs to resting hairs. Following
the events by 2 to 4 months, the hairs are shed over 3 to 4 months.
TELOGEN EFFLUVIUM (Fig. 2.3)
Telogen is the name given to the acquired diffuse alopecia that results from rapid conversion
of scalp hairs from growing state to resting state.
Diagnosis: It is made by plucking atleast 50 hairs from the childs scalp and examining the
roots to determine whether they are growing or resting. In anagen phase, the hair will have
a pigmented core and a bulbous root that is larger in diameter than the hair shaft. In telogen
phase, the external root sheath is absent, or fragmented pigment is often absent, and the
root of the hair is narrower than the caliber of the outer hair and frequently curved.
Treatment: Patient should be reassured that normal hair growth would return within 6 months.
ANAGEN EFFLUVIUM
It is an acute, severe diffuse inhibition of growth of anagen follicles; the loss is greater than 8090%. It is caused by radiation and cancer chemotherapeutic drugs and hypervitaminosis A.
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Fig. 2.3: Telogen effluvium. Note acquired

diffuse nonscarring alopecia
ALOPECIA AREATA (Fig. 2.2A)

It is characterized by complete or almost complete hair loss in circumscribed areas without
scalp changes.
A positive family history is seen in 10 to 20 percent of patients.
Nail disease is seen in 46 percent cases ranging from pitting 1 to 2 mm in nail plate.
Prognosis for most children is excellent. Complete hair growth occurs within a year in 95
percent cases. Spontaneous remission is the rule.
Treatment
Anthralin used locally for its irritant effect (stimulate hair growth).
Intralesional injection of triamcinolone solution.
Topical corticosteroid.
STEVENS-JOHNSON SYNDROME (Figs 2.4 and 2.5)

DEFINITION
It is a severe type of adverse reaction mostly due to drugs, some times due to infectious
agent and is characterized by a distinct eruption and involvement of atleast two mucous
membranes and the erosions involve more than 20 percent area. It is also called as erythema
multiforme major. When mucous membrane are not involved it is called as erythema
multiforme minor. The severe form of erythema multiforme spectrum is toxic epidermal
necrolysis (TEN) here more than 30 percent of area is affected by erosion.
Etiology: Drugs likeAnticonvulsants- Barbiturate, diphenhydantoin, carbamazepine,
Lamotrigene. AntibioticsPenicillins, sulphonamides. Nonsteroidal anti-inflammatory drugsIbuprofen and naprosyn. Infectious agent like Mycoplasma pneumoniae, herpes simplex,
etc.
CLINICAL FEATURES
The skin lesions are seen of many types erythematous macule, purpuric macule, papules,
blisters leading to erosions. Target or iris lesion are quite specific, individual erosions are <
3 cm in diameter.
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Dermatology
Figs 2.4A to D: StevensJohnson syndromeIn three-year-old child, rashes appeared after starting
cotrimoxazole for diarrhea, note the progress of the lesion. The beginning of the eruptions (extreme left),
subsequent evolution of the rashes in the middle and the recovery (extreme right).
It may precede upper respiratory symptoms and may cause exudative and erosive stomatitis,
conjunctivitis, or vulvovaginitis, arthritis, arthralgia, pneumonia, and hepatitis.
TREATMENT
Multidisciplinary approach like involvement of pediatrician dermatologist and ophthalmic
surgeon.
Offending drug to be discontinued.
Management of fluid and electrolyte imbalance.
Skin care in the form of warm tap water compresses and application of petroleum ointment
over denuded area.
Use of corticosteroid is controversial. If used at all it has to be used early and if there is no
response within 4 days it has to be discontinued. Prednisolone has to be used in dose of
2 mg/kg/d.
PROGNOSIS
Produces significant morbidity and has a protracted course. Its mortality ranges from 5 to 15
percent.
Figs 2.5A to D: SJS-Erythematous, dark macules along with mucosal lesions in a two-year-old child who was
kept on carbamazepine for seizure. See the evolution of the rash from extreme left to extreme right, the
recovery.
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TOXIC EPIDERMAL NECROLYSIS (TEN) (Fig. 2.6)

TEN is severe form of drug reaction involving skin and mucous membrane; it is severe
form of erythema multiforme spectrum with blistering involving more than 30 percent of
body surface.
Etiology: Drugs likeAnticonvulsants- Barbiturate, diphenhydantoin, carbamazepine,
Lamotrigene. AntibioticsPenicillin, sulphonamides. Nonsteroidal anti-inflammatory drugsibuprofen.
CLINICAL FEATURES
Clinically skin becomes necrotic dark colored and peels off in sheets measuring > 3 cm.
The bullae and erosion involve > 30 percent of body area. Face and upper part of the body
is prominently involved. Nikolski sign is positive that is rubbing the adjacent normal skin of
blister enlarges the erosion but it is not specific for TEN. Apart from skin involvement there
is involvement of mucous membrane in the form of exudative stomatitis, purulent
conjunctivitis, and vulvovaginitis.
It has very explosive onset, within 24 hours disease takes its full-blown shape.
Mortality is as high as 30 percent.
Fig. 2.6: Dark skin peels off in sheets measurung > 3 cm,
bullae and erosion involves more than 30 percent area
TREATMENT
Treatment should be taken in the burn unit with simultaneous involvement of ophthalmologist,
dermatologist and pediatrician.
Search and stop the precipitating factors. Adequate fluid and electrolyte balance has to be
maintained.
Antibiotics to control the infections.
Skin care has to be as in burn cases, wash the skin by normal saline, remove the loose skin
and blisters, apply petroleum jelly to provide barrier.
HENOCH-SCHNLEIN PURPURA (Figs 2.7A to C)

DEFINITION
HSP is hypersensitivity disorder, also called as anaphylactoid purpura. It is vasculitis of
small vessels. It is the nonthrombocytopenic purpura seen in children.
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Dermatology
Figs 2.7A to C: Henoch-Schnlein purpura. (A) A 10-year-old boy presented with severe sore throat. Examination
of throat revealed white patch over the tonsils, throat swab culture identifies the streptococcal beta hemolyticus.
The white patches have to be differentiated from white patch of Infectious mononucleosis, where other
features of IMN are also present. This patient was kept on adequate penicillin coverage. A review, after a week,
the patch disappeared but parents noticed purpuric rashed over lower limb, hand and buttocks which was
palpable over lower limbs. (B and C) The platelet count was normal patient was clinically diagnosed as a case
of HSP
ETIOLOGY
Etiology is unknown but typically it is precipitated by upper respiratory infection. It may be
precipitated by bacterial infection (group A beta hemolytic Streptococcus), viral infection (human
parvovirus B19), drugs like captopril, ciprofloxacin, aminosalicylic acid, insect bite and some
unknown allergen.
PATHOGENESIS
Pathogenesis is uncertain. Probably high frequency of HLA-DRB1*07. Increase in serum
concentration of cytokines tumor necrosis factor alpha (TNF alpha) and inter leukin 6 seen
in active disease. There is increase in antistreptolysin O (ASO) titre to suggest involvement
of group B Streptococcus. There is deposition of IgA and C3 in small vessel of skin and
glomerulus inducing vasculitis seen by immunofluorescence technique. This induces
inflammation.
CLINICAL FEATURE
The onset may be acute or insidious may take weeks to month.
TYPICAL SKIN RASH
Begins as pinkish maculopapule that initially blanches. It progress to palpable purpura.
Lesion develops as crops within 3 to 10 days.
Distribution: From buttock down the lower extremity some time upper extremity is involved.
These rashes evolve from red to purple to rusty brown due to hemosiderin deposition.
Ten percent patient shows recurrences even as late as several years.
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GIT-symptoms- (75%) cases. Colicky abdominal pain, vomiting, gross or occult blood in
stool. Intussusception is suggestested by empty right lower abdominal quadrant and red
currant jelly stool.
Joint symptoms- (>75%) localised at knee joint and ankle.
Renal involvement- (25% to 50%) Hematuria and proteinuria.
CNS involvement- rare but seizure, paresis and coma occurs.
COMPLICATIONS
The major complications are nephritic syndrome, hypertensive encephalopathy, chroni
glomerulonephritis (5% cases) and bowel perforation and intussusception some times
testicular torsion is also reported.
TREATMENT
There is no definite treatment and is mainly supportive. Most of the complaints are selflimiting.
Bed rest, bland diet.
Acetaminophen is used to control fever, pain and edema.
Prednisolone in dose of 1 to 2 mg/kg BW is used in severe gastrointestinal renal and CNS
symptoms and it produces dramatic improvement.
Aspirin in case of thrombotic episodes.
Cochicine in alternate days dose in case of rheumatic nodule.
PROGNOSIS
HSP is a self-limiting disease with overall excellent prognosis. Less than one percent cases
develop chronic renal disease, therefore, serial urine analysis is required and follow-up renal
surveillance if initial symptoms were pertaining to renal disease.
SEBORRHEIC DERMATITIS (Fig. 2.8)

It is type of chronic dermatitis associated with excess of sebum production.
It is seen over scalp, face mid chest or perineum and is seen in extreme of pediatric age
group, i.e. neonate and the adolescent. The other areas involved are eyebrows, central oval
of the face, ears, neck, post auricular fold and intertriginous area.
The scalp appears greasy with accumulation of scales trapped in the sebum.
In adolescent it appears as greasy scale. Erythema in the nasolabial folds and scalp may be
seen.
TREATMENT
Low potency topical steroids applied twice a day for several days.
Keratolytic shampoo applied over scalp for several minutes, while scalp is scrubbed with a
soft brush or toothbrush to remove scale and crust. Low potency steroids is then applied
after shampoo. This procedure is then applied daily till resolution occurs.
Oral Biotin therapy is considered in biotin responsive dermatitis.
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Dermatology
Fig. 2.8: Seborrheic dermatitisGreasy scales involving scalp, face

and eyebrows.
HEMANGIOMA AND VASCULAR MALFORMATION (Figs 2.9 to 2.11)

Vascular birthmarks are one of the common forms of birth defect.
According to Mulliken and Glowacki1 classification, which divides vascular birthmarks into
hemangiomas and vascular malformations.2 Initially at early stage they may look alike but in
later life they have distinct natural history.
Mulliken and Glowacki Classification of vascular malformation.
HEMANGIOMA-VASCULAR MALFORMATION
Superficial
Capillary (Port wine)
Mixed
Telangiectatic
Deep
Hypertrophiccapillary (angiokeratoma)
Venous (cavernous)
Arteriovenous
Lymphatic
Cutis marmorata telangiectatica congenital
CLINICAL FEATURE
Types
Superficial (Strawberry hemangioma) are most common type which appears between 2nd
and 4th week of life. They are asymptomatic, blanches and compressible in nature. They
are bright red and popular.
Deep (Cavernous) hemangiomapresent at birth, bluish and nodular.
Mixed superficial and deep.
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Fig. 2.9: Hemangioma of lower lip
Fig. 2.10: Portwine stain over Fig. 2.11: Hemangioma right

right half of face
cheek in an infant with
cavernous component
Only 20 percent hemangioma are present at birth, rest 80 percent arise between 2 and 8
week age. At the time of presentation it is difficult to predict what form and size of hemangioma
will eventually takes place.
Natural course of hemangioma- at age 4 to 8 weeks there is rapid growth phase, which
continues until the infant is 6 to 9 months of age. This rapid growth phase is characteristic
of hemangioma even more than growth of infant. At this stage it is soft and compressible.
The phase is followed by phase of regression that begins at second year, and by 5 years age
regression is 50 percent and by 9 years almost 90 percent hemangioma regresses.
Natural course of vascular malformation- usually present at the time of birth and expresses
slow growth.
Complication- in the form of ulceration and infection. It compromises the function of the
part which depends upon the site of its presence. Some times hemangioma rapidly enhances
in size and is associated with life threatening hemorrhages and features of shock and is
called as Kasabach-Merritt syndrome. This is due to trapping of circulating platelets and
coagulation factor.
TREATMENT
All hemangiomas which have potential to interfere with vital function should be treated,
however, other indications are as follows:
Kasabach-Merritt syndrome
High output cardiac failure
Obstruction of vital function
Ulceration
Infection
TREATMENT OPTIONS
Oral glucocorticoids- 30 to 60 percent patient responds to oral prednisolone 2 mg/kg/d
morning doses for 4 weeks and later tapering it to alternate days. Responsive hemangioma
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Dermatology
will demonstrate effect of treatment within 7 to 10 days as softening of tumor, lightening of

color or a noticeable decrease in growth rate.
Intralesional injection of triamcinolone acetonide solution (40 mg/ml) 1 to 3 mg/kg/ every 2
weeks time.
Interferon alpha 2 a- 1 million U/m2/day subcutaneous injection till regression is complete
(Fever and 10% incidence of spastic diplegia is reported by its use).
Vascular specific pulse dye laser has been shown to induce regression in 75 percent cases
of hemangioma with ulceration. Non-specific laser therapy such as a carbon dioxide or the
neodymium: YUG (Yttrium aluminium, garnet) may cause scarring and hamper outcome.
CUTIS MARMORATA TELANGIECTATICA CONGENITA (Fig. 2.12)

In cutis marmorata telangiectatica congenital a mottled pattern of blue or dusky-red erythema is
seen from birth. The lesion is usually bilaterally seen on the extremities and the trunk, but oftensingle extremity is involved. There is gradual increase in size of the lesion, expected over one
year and then gradually fade out at adulthood. Musculoskeletal and other vascular malformations
are sometime associated.
Fig. 2.12: Cutis marmorata telangiectatica congenita
NEVUS OF OTA (Fig. 2.13)

SYNONYM
Nevus Fascoceruleus Ophthalmomaxillaris, Nevus Fascoceruleus Acromiodeltoidalis.
DEFINITION
It is pigmentary disorder affecting specific anatomic location. It is due to melanocytic arrest
in the dermis, which is an abnormal location for melanocyte.
It is an area of extensive blue patches like area of dermal melanocytic pigmentation of the
sclera and the skin adjacent the eye. Pigmentation apart from sclera also involves conjunctiva,
iris, and optic nerve, cheeks forehead, scalp, alae nasi and ears.
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Fig. 2.13: Nevus of ota
Lesion presents in 60 percent cases at birth. Rest appear at puberty. In few cases it is
acquired.3 They are mostly unilateral.
The skin lesion is permanent in nature and can be removed by Q- switched ruby laser for
cosmetic reason.
NEVUS OF ITO
The area of involvement is acromioclavicular region and upper chest.
EPIDERMOLYSIS BULLOSA (Figs 2.14A and B)
It is hereditary disorder characterized by bullae formation as a result of trauma.

EB is divided into scarring and nonscarring type.
Nonscarring type
Epidermolysis bullosa simplex (EBS)
Junctional epidermolysis bullosa (JEB)
Scarring type (Dystrophic) includes subepidermolysis bullosa
Epidermal bullosa simplex
EBS of hands and feet (Weber-Cockayne Disease)
Generalized EBS (Koebner variant).
Epidermolysis bullosa simplex- is an autosomal dominant condition. The most common
form is localized to hands and feet. Blisters have its first appearance in childhood and adolescence
when the child experiences minor trauma. Warm weather worsens the disease. The condition
improves with age.
Generalized EBS- is also an autosomal dominant condition. Onset may be at the time of birth
or between 6 months and 12 months age. They are more numerous on distal extremities.
Disease worsens in warm weather.
Distrophic epidermolysis bullosa- may be autosomal recessive and dominant type. They
may have appearance of blisters at birth and associated with scar formation, growth
retardation, dental and nail changes.
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Dermatology
Figs 2.14A and B: (A) Epidermolysis bullosa simplex lesions over soles of 4 year old
child (B) Junctional epidermolysis bullosa in new born.There are multiple moist erosions
involving fingers and perioral skin, and pressure points. Few bullae are large in size.
Nails could also be affected. Hands and feet are relatively spared. Treatment for the
condition is supportive. Photograph courtesy by Dr Ramesh Bhatt, KMC, Manipal.
Molecular genetic studies in EB cases identified mutations in keratinocyte gene1, encoding

there major structural protein: Keratins 5 and 14 in EBS, Laminin S in JEB and type VII
collagen in dystrophic form.
Diagnosis: It is usually made by clinical, histopathological and molecular biology technique.
Blister Biopsy- is taken in severe cases by inducing blisters with pencil eraser or a suction
device. A shave biopsy taken from normal skin into induced blister is preferred. This specimen
has to be examined under light and electron microscope and immunofluorescent mapping.
Management is symptomatic and supportive.
Gentle handling, loose fitting clothes, gentle sponge bath.
Blisters can be opened by sterile scissor and roof allowed to collapse by gently compressing
out the fluid.
Antisepsis for eroded area by topical antibiotic (Mupirocin). Antibiotics should be periodically
changed to avoid bacterial resistance.
Low dose of systemic corticosteroid in severe cases.
Genetic counseling.
ACRODERMATITIS ENTEROPATHICA (Figs 2.15 and 2.16)

DEFINITION
AE is an autosomal recessive disorder of zinc transport. It begins 1 to 2 month after birth
lesions around acral region, recurrent diarrhea and failure to thrive.
CLINICAL FEATURE
The erosions appear red moist areas over distal extremities including hands and feet, perioral
and perineal area. Hairs may show peculiar red tint. Eye involvement in the form of
photophobia, conjunctivitis and corneal dystrophy. Other features are chronic diarrhea,
stomatitis, glossitis, paronychia, nail dystrophy, growth retardation and delayed wound
healing.
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Fig. 2.15: Acrodermatitis

enteropathica- Crusting perioral lesion
Fig. 2.16: Lesion over arm, legs and buttocks
DIAGNOSIS
Diagnosis is usually clinical supported by serum zinc level and serum alkaline phosphatase
enzyme. Later is zinc-containing enzyme, in zinc deficiency the level of this enzyme is low.
Precautions during collection of blood for serum zinc estimation is that blood should be
collected in acid washed plastic tubes and syringes. This is due to avoid zinc contamination
from glass tubes and other blood collecting devices.
PATHOGENESIS
It is thought that zinc deficiency results in impairment of metalloenzyme activity which
produces the clinical picture.
TREATMENT
Oral zinc sulphate 5 mg/kg/day given in twice daily produces rapid clinical improvement.
Apathy disappears within 24 hours and skin lesions and diarrhea resolves within 7 to 14
days.
SCABIES (Figs 2.17A to F)

DEFINITION
Scabies is an infestation of skin caused by Sarcoptes scabiei hominis also called as itch mite.
CLINICAL FEATURE
This itch mite burrows into the epidermis and irritates the skin causing scratching, which
leads to excoriation, which further serves as portal or entry for pathogenic organism. It
presents as intense pruritic papules over abdomen, dorsa of hand, flexurals surface of the
wrist, elbow, periaxillary skin, genitalia and interdigital webs of the hand.
In infants its presentation differs. It presents as eczematous eruption of face and trunk as an
acute dermatitis that is characterized by excoriation, erythematous papule, honey colored
crusts and pustules.
In older children and adolescent head and neck are almost never involved.
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Dermatology
Figs 2.17A to F: Scabies (A) An infant with involvement of hands palm, soles and face (B) Involvement of
dorsa of hand and interdigital areas (C) Eczematous eruptions in an infant (D) Involvement of male genitalia
(E) Involvement of natal folds and buttocks (F) Involvement of dorsum of hands and finger webs in older age
group
Secondary infection is quite common in children due to Staphylococcus aureus or Streptococcus

pyogens. Later is responsible for development of acute glomerulonephritis.
Crusted nodules present over trunk as S-shaped burrow are diagnostic. It is an ideal lesion
for scrapping.
In mentally retarded children who are unable to scratch may have thousands of scabies mite
and the lesion takes the form of diffuse hyperkeratosis and lichenification. It is seen on
hands, feet and genitalia. This form of scabies is known as Norwegian scabies.
TREATMENT
Maintenance of hygiene and local application of scabicidal drugs is the main stay of treatment.
Permethrine 5 percent application neck downward for 8 to 14 hrs produces 98 percent
cure.4 Permethrin acts on the nerve cell membrane of the mite to disrupt the sodium channel
current that regulates the polarization and subsequent paralysis and death of mite.
Method of application: Permethrin 5 percent cream is applied on cleansed and dry skin. In
adults and children over 2 years, the cream should be applied to the whole body from neck
down, rubbing lightly into the skin until the cream disappears. It is important to include all
skin surface, such as between the fingers and toes, under the nails and on the sole of the
feet. For babies under 2 years, apply to the face, neck, ears and scalp as well avoiding eyes.
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It should be washed after 8 to 14 hrs after application to minimise the risk of allergic contact
dermatitis.
Gama benzene hydrochloride (Lindane) 1 percent applied once is curative 82 percent cases.5
Lindane when absorb systemically it can also result into CNS side effect.
Ivermectin- is a systemic drug that has been approved for the treatment of onchocerciasis
also use as scabicidal. Single dose of ivermectin 200 microgm/kg have a cure rate of 70
percent which increases to 95 percent with 2 doses at 2 week interval.
For infant less than six months age sulphur 6 to 10 percent ointment twice day for three
days can be used as alternative. In small children covering the arm and fingers after application
of drug is recommended to avoid ingestion by licking.
Control of itching: In scabies itching is due to immunological reaction by mite protein and it
presents for 3 to 4 weeks after the treatment. It requires antihistamine (e.g. Pheniramine
maleate) or local application of calamine lotion.
Luke warm water bath with tetmosal soap may be beneficial.
Cloths should be sun dried and to be changed daily. Mite die within 48 hrs when not on the
human body. Therefore, infection by cloths is minimum.
Treatment of secondary bacterial infection is by oral erythromycin.
Treat all possible contacts.
HEAD LICE (PEDICULOSIS CAPITIS) (Fig. 2.18)

They usually presents with pruritus of the scalp, ears and neck, which can be occasionally
very severe.
Nits (eggs) are oval and yellow-white, measuring 0.3 to 0.8 mm in size. They are found
close to the scalp, firmly cemented to the hairs around ear and the occiput. Secondary
impetigo, folliculitis, furunculous is common and may mask the primary disease.
Treatment
Permethrin shampoo, single application for 10 minutes and then towel drying of the scalp.
Can be repeated after a week.
Treat all contact at the same time. Fine tooth hair comb is advised to remove the nits.
Instruct the family to wash the clothing and bedding in very hot water for 10 minutes.
Apply petrolatum bid for 8 days and remove the nits manually in cases of eyelashes nits
(crab louse).
Fig. 2.18: Head lice (Pediculosis capitis)
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31
PSORIASIS (Figs 2.19 A and B)

SYNONYMS
Lepra alphos, psoriasis vulgaris.
INCIDENCE
Psoriasis is a common skin disease of childhood. In over third of psoriatic patients, disease
begins in childhood or adolescence. In many countries incidence varies from 1 to 3 percent of
population.
PATHOGENESIS
It is not clear, but a rapid epidermal cell turnover is claimed to be the cause. Normally it takes 28
days for epidermal cell to travel from basal layer to surface of the skin but in psoriasis it takes
only 3 to 4 days to reach the surface.
SIGNS
The eruption is characterized by erythematous macule or papules covered by dry, silvery
scales, which when scrapped off, reveal a pinpoint bleeding (Auspitz sign).
Small lesion tends to coalesce forming plaques of varied shapes. The distribution is usually
symmetrical. Nail involvement is common. As a rule psoriatic patched in children is milder
in as compared to adults.
CLINICAL VARIANTS
Napkin psoriasisoccurs in folds of the diaper area of infants.
Guttate psoriasisthis is an eruption of small (less than 1 cm), round or oval lesion, mainly
on the trunk, which appears with sudden onset, and follows upper respiratory infection.
Figs 2.19A and B: Psoriasis (A) Scalp involvement results in accumulation of thick scales throughout the
scalp (B) Guttate psoriasis in an old child. Drop like white silvery plaques seen over extremities and trunk
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Follicular psoriasisthere is tiny horny pointed lesion around hair follicles, usually on the
extensor aspect of the extremities.
Psoriasis of scalpscaliness is more evident due to scanty hairs. And scalp is the first site
affected.
SYMPTOMS
The condition is usually asymptomatic, but there may be mild pruritis. Psychological problem
may develop in sensitive children.
COURSE
Chronic, with period of remissions and exacerbation, later may be aggravated by emotional
stress.
TREATMENT
Parents of the child should be informed as to the nature and chronicity of the disease. Since
lesions are tiny and soft, topical medium to high potency corticosteroids are usually effective.
Resistant cases may need coal tar and salicylic acid preparation at low concentration (1% to
3%).
Antibiotics if streptococcal infection is suspected.
COLLODION BABY (Figs 2.20A to C)

It is a one of the primary group of inherited disorder of cornification characterized by
pattern of scaling, inherited pattern, distinct clinical feature and histopathological change.
New born with an encasement of shiny, tight inelastic scale, resembling oiled parchment is
designated as having collodion membrane, which subsequently sheds off.
The condition is usually a manifestation of Congenital Ichthyosiform Erythroderma or lamellar
icthyosis. Infrequently, an affected infant has normal skin after the membrane is shed.
There is presence of ectropion, flattening of ears and nose and fixation of lip in an O-shaped
configuration. The hair may be absent or may perforate the horny covering.
The collodion membrane is composed of greatly thickened stratum corneum that has been
saturated with water. As the water content evaporate in extra uterine life, large fissure.
It is important to differentiate the collodion baby from harlequin ichthyosis as the latter
rarely survives past the first few days of life.
The presence of collodion membrane doesnt allow predicting that the baby will necessarily
develop ichthyosis and spontaneous healing may occur. Skin biopsy of collodion membrane
is usually not diagnostic. Most collodion babies do have a form of ichthyosis and majority of
them develops feature of lamellar ichthyosis, bullous ichthyosis, X-linked ichthyosis,
Nethertons syndrome and gauchers disease have also been reported to present as collodion
babies.
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Dermatology
Figs 2.20A to C: Collodion babies in a family. Autosomal recessive inheritance. (A) First child at birth. (B) Second
child at birth. (C) Both child, elder is 4 years old with extensive lamellar ichthyosis. Second one in nenatal period
The complication in the form of cutaneous infection, aspiration pneumonia, hypothermia or

hypernatremic dehydration from excess transcutaneous fluid loss as a result of increase
skin permeability may occur.
The outcome is uncertain and accurate prognosis impossible with subsequent development
of ichthyosis.
TREATMENT
Treatment initially consists of high fluid intake to avoid dehydration and transepidermal fluid
loss and use of heated humidified incubator, emulsifying ointment and retinoids.
HARLEQUIN FETUS (Figs 2.21 A to C)

Harlequin fetus is rare disorder of keratinization or a severe form of lamellar ichthyosis and
represents autosomal recessive disease.
At birth skin is markedly thickened with ridges, cracks and horney plates seen almost all
over body. There is severe ectropion and chemosis of the eye, flattened nose and ears, lips
everted with gaping. Nails and hair may be absent. Joint deformity with restricted mobility
is seen. They are prone to respiratory distress and infections. Prognosis is poor and most
patient die within first week an occasional one survives longer.
The common histopathological features include hyperkeratosis, accumulation of lipid droplets
within corneocyte and absence of normal lamellar granules.
TREATMENT
Strict hygiene, high fluid intake preventing dehydration by use of humidified incubators and
application of emulsifying ointments. Oral retinoids such as etretinate may be useful.
Prenatal diagnosis- by fetoscopy, fetal skin biopsy and amniocentesis for cells between 17th
and 21st weeks of gestation.
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Figs 2.21A to C: Harlequin fetus: (A) Disfigured baby, tight constricting integument, digital loss.
(B) Severe ectropion and O-shaped mouth. (C) Horny cracks of the skin
ICHTHYOSIS VULGARIS (Figs 2.22A to D)

Ichthyosis is a hereditary skin disorder characterized by dryness and excessive scaling.
There are five types of Ichthyosis and each is differentiated from other by mode of inheritance,
age of onset and characteristic distribution of scale.
Ichthyosis vulgaris is an autosomal dominant condition characterized by diffuse fine scales
over the extensor aspect, sparing of flexures and hyperlinear palms. It is often associated
with atopic dermatitis.
TREATMENT
Use of emollient (Urea cream, ammonium lactate cream).
D
Figs 2.22A to D: Ichthyosis vulgaris
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Dermatology
Keratolytic cream.
Oral retenoids.
Genetic counseling.
SYNDROMES ASSOCIATED WITH ICHTHYOSIS
Netherton syndrome.
Sjgrens larson syndrome.
Rud syndrome.
Congenital hemidysplasia ichthyosis limb defect (CHILD) syndrome.
Keratitis ichthyosis, deafness (KID) syndrome.
Refsums syndrome.
Trichothiadystrophy.
CUTIS LAXA (Fig. 2.23)

Cutis laxa is a autosomal recessive or autosomal dominant disorder. This has to be
differentiated from Ehlers-Danlos syndrome where there is joint laxity in addition to the skin
changes.
Pathology not exactly known. Few studies has shown that serum copper was low and
urinary excretion high, consistent with the theory that low serum copper level produces a
low elastase inhibitor substance with increase distruction of elastic fibers.
Fig. 2.23: Cutis laxa. Child with loose

skin folds, joint and ligamentary laxity
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SCLERODERMA (Figs 2.24 A and B)

DEFINITION
Definition: It is a chronic disorder of idiopathic origin characterized by fibrosis affecting
dermis and arteries of lung, kidney and GIT. The ANA is positive against topoisomerase 1
(SCL70) and centromere suggesting autoimmune etiology.
Mainly of two-typessystemic sclerosis (diffuse involvement), localized scleroderma
(morphea).
SYSTEMIC SCLEROSIS
It starts with edematous phase before fibrosis sets in. Loss of subcutaneous tissue in the
face results in small stoma, skin ulceration over pressure points, loss of tissue at fingertip
giving rise to ulceration especially when raynauds phenomenon is severe.
Distal phalanges exhibit acro-osteolysis, sclerodactyly.
Other chronic changes include epidermal thinning, hair loss and decreased sweating.
Systemic involvement: Respiratory- includes arterial and interstitial involvement, which may
lead to right sided heart failure. Renal involvement leads to renal arterial disease leading to
hypertension, Heart- cardiac fibrosis, arrhythmias, and ventricular hypertrophy.
CREST syndrome- refers to Calcinosis, Raynauds phenomenon, Oesophageal involvement,
Sclerosis of the skin and telangiectasis.
DIGNOSTIC CRITERIA
Major criterion: Proximal scleroderma- typical sclerodermatous skin changes (tightness,
thickening and nonpitting induration excluding localized forms of scleroderma) area involving
proximal to metacarpophalangeal or metatarsophalangeal joints.
Figs 2.24A and B: Systemic sclerosis (A) Hardening of skin with pigmentation, loss of nasolabial
folds and expression less face. (B) Comparison of skin laxity with her mothers. Hardened skin is
difficult to lift
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Dermatology
Minor criteria: Sclerodactyly, scleromatous skin changes limited to digits. Digital pitting
scars resulting from digital ischemia. Bibasillary pulmonary fibrosis non attributable to
pulmonary lung disease.
(The diagnosis of scleroderma requires the presence of the major criterion or two of the
three minor criterions. Arthritis rheum 1980;23:581).
TREATMENT
No specific treatment. Immunosuppressive agents like corticosteroid and methotrexate in
early stage of disease may be helpful. Physiotherapy and occupational therapy improves
flexion contraction in selected cases.
TINEA CORPORIS (Fig. 2.25)

DEFINITION
It is fungal infection of skin caused by dermatophytes, namely M.canis, T.mentagrophytes,
T.tonsurans and T.rubran.
It consists of one or several erythematous patches. These patches may have a popular,
scaly, annular border and a clear center.
PATHOGENESIS
The dermatophytes invades the superficial layer of epidermis, the stratum corneum. The
exact mechanism of the inflammation is not known, but toxin released by dermatophytes
are responsible for initiating inflammatory response.
DIAGNOSIS
DIAGNOSIS is confirmed by KOH examination of scraping of thin scales obtained from
border of the lesion.
Fig. 2.25: Tinea corporis. Presence of circinate patch with prominent papulo-vesicular margins
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TREATMENT
Tinea corporis is treated by application of topical antifungal cream. Topical terbinafine
produces clinical and mycological clearing within one week. Other topical antifungal used
are ciclopirox, clotrimazole, ketokonazole, econazole, miconazole, etc. The cream has to be
applied twice day for atleast 4 to 6 weeks.
ADVISE AND FOLLOWUP
Parents are explained that these fungus are present in soil and animals; one must trace the
source of infection and other family members can be prevented to contract infection. Cream
application should cover whole of the lesion plus one centimeter border beyond it. Skin has
to be kept dry and contact with pets are avoided.
URTICARIA (Fig. 2.26)

Urticaria is a common skin disorder that affects 15 to 20 percent of population. It is
characterized by transient edematous pink papules and plaques that are called wheels.
Urticaria of less than 6 weeks duration is called as acute, while that lasting more than 6
weeks it is termed as chronic urticaria.
Mechanism
Most common is the IgE dependent hypersensitivity, which is the most common. Here
the sensitised mast cell or basophiles releases mediators such as histamine after exposure
to antigen. Example is urticaria caused by food, drugs like penicillin, animal danders
etc.
Urticaria may also be due to direct mast cell degranulation, e.g. Medications like opiates,
curare and radio contrast media.
Urticaria is also seen in disorder of complement system, e.g. vasculitis, serum sickness,
collagen vascular disease.
Clinical features
The most characteristic features of the wheels is the transient, fleeting nature. Individual
lesion may last few minutes to hours, but rarely longer than 24 hours. If the single wheel
persists for more than 24 hours the diagnosis should be revised.
The lesions are erythematous, pale center and with pruritis. They may be localized or
generalized; circular, annular or serpigenous and ranges from few millimeter to several
centimeters.
Some time large wheels and diffuse swelling occurs representing involvement of deep
dermis. This is called as angioedema. Mostly affects face and extremity. Systemic
involvement includes dizziness, swelling in the throat, difficulty in breathing, wheezing,
nausea, vomiting abdominal pain and diarrhea.
Diagnosis
Diagnosis is straightforward with history and physical examination. The real difficulty
lies in detecting the cause. In children it is usually the infections that to viral upper
respiratory infection. Bacterial, fungal and parasitic may be the triggering factors.
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Dermatology
39
Fig. 2.26: Urticaria
Physical factors like cold, heat, vibration, sunlight and water may provoke rashes.
Dermatographism is the most common physical urticaria, refers to wheel, which appears
after stroking of skin.
Treatment
Elimination of the cause and prevention of exposure again.
H-1 receptor antagonist like hydroxyzine and diphenhydramine are very effective but are
sedating.
Newer generation H-1 blockers like loratidine, fexofenadine and cetrizine are effective.
Addition of H-2 antagonist like cimitedine, ranitidine and femotidine to H-1 receptor
antagonist may be useful.
Corticosteroid and subcutaneous epinephrine are reserved for severe attacks with laryngeal
edema.
DERMATOGRAPHISM (Fig. 2.27)

The ability to write on skin is termed as Dermatographism. It is seen as an isolated disorder
or with chronic urticaria and physical urticaria like cholinergic or cold urticaria.
It occurs in one percent of adolescents and it occurs as wheel and erythema following
minor stoking or pressure on the skin. The wheel reaches maximum size in 6 to 7 minutes
and persists for 10 to 15 minutes. It is due to reflex vasoconstriction.
In 50 percent cases it is related to IgA-dependent mechanism.
When wheel is seen in comatose children, e.g. encephalitis, meningitis, and drug over dosage
it is termed as tache cerebrale.
Dermatographism may persist for years but most patient shows spontaneous regression
within 2 years.
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Fig. 2.27: Dermatographism
DERMATOFIBROMA* (Fig. 2.28)

These are benign dermal tumors may be pedunculated, nodular or flat usually well
circumscribed. The overlying skin is usually hyperpigmented, may be shiny or keratotic.
Dermatofibroma ranges in size from 0.5 to 10 mm arise most frequently on the limbs and
are usually asymptomatic but occasionally are pruritic.
The cause of tumor is unknown, but trauma such as insect bite or folliculitis appears to
induce reactive hyperplasia.
The differential diagnosis includes epidermal inclusion cyst, juvenile xanthogranuloma,
neurofibroma.
Treatment: They can be excised or left intact according to patient choice. They usually
persist indefinitely but occasionally involute spontaneously.
Fig. 2.28: Dermatofibroma
CONGENITAL MELANOCYTIC NEVUS (Figs 2.29 A to C)

Congenital melanocytic nevi are present in approximately one percent of newborn infants.
The nevi is characterized by size: Giant congenital nevi are more than 20 mm in diameter
(adult size), small congenital nevi less than 2 mm in diameter, intermediate are in between
these two sizes.
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Dermatology
Figs 2.29A to C: Giant nevus (A) (B) (Neurocutaneous melanosis). Note the large bathing trunk
nevi and small lesion elsewhere especially head and scalp. Photographs by Dr Pallabh Chhaterjee,
Kolkata (C) Note the Giant hairy nevus over back and chest
Small congenital nevus seen over lower trunk, upper back shoulders, chest and proximal
limb. The lesions are flat, elevated, verrucous and may be of various shades brown, black
or blue. The malignancy potential of small nevi is approximately 15 percent.
Giant congenital pigmented nevus seen in (<1/20,000) deliveries. Seen most commonly
over posterior trunk but may also appear overhead and extremities.
These nevi are of special significance because of their association with leptomeningeal
melanocytosis and their predisposition for the development of malignant melanoma. The
leptomeningeal melanosis usually occurs when the nevus is located overhead or midline on
the trunk, especially when associated with satellite melanocytic nevi.
The neurological abnormalities include hydrocephalus, epilepsy, intracranial hemorrhage,
cranial nerve palsy and psychiatric disturbance.
Giant pigmented hairy nevus syndrome: These are situated over trunk. Lesions are raised,
darkly pigmented and hairy. Some cases have concomitant leptomeningeal melanosis. In 2
to 13 percent cases the skin nevi becomes malignant, 50 percent before the age of five
years.
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Management is controversial. An MRI scan is done if nevi are situated overhead and spine
to detect the existence of neural melanosis in such cases gross excision is a futile exercise.
In the absence of neural melanosis early excision and repair can be done.
JUVENILE XANTHOGRANULOMA (Figs 2.30A and B)

They are firm dome shaped; yellow pink papules or nodules vary in size from few mm to 4
cm in diameter. They are seen usually at birth or in first several months of life.
Site- usually seen over face, scalp and upper trunk.
The lesion clinically resembles papulo nodular urticaria pigmentosa, dermatofibromas, or
xanthoma.
The patients are otherwise normal, 20 percent patients have associated cafe au lait patches.
There is ocular involvement especially when the patient is less than two years age, multiple
lesions and when lesions are around eyes.
TreatmentThey regress of own during first few years. There is residual pigmentation and
atrophy but there is no scarring.
Fig. 2.30: Juvenile xanthogranuloma (A) Xanthogranuloma over face associated with a cafe au lait
patches. (B) Xanthogranuloma in a neonate. Note the dome shaped nodular lesion over body in a other
wise normal neonate. Photographs by Dr Pallabh Chhaterjee, Kolkata
ECTODERMAL DYSPLASIA (Fig. 2.31)

The syndrome is manifested as a triad of defects:
Partial or complete absence of sweat glands,
Anomalous dentition and
Hypotrichosis.
It is usually inherited as X-linked recessive trait with full expression only in males.
Affected children unable to sweat, may experience episodes of high fever in warm
environments and may be mistakenly considered to have fever of unknown origin. The
typical facies is characterized by frontal bossing, malar hypoplasia, a flattened nasal bridge,
recessed columella, thick everted lips, wrinkled hyper pigmented peri-orbital skin and low
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Dermatology
Fig. 2.31: Hypohidrotic ectodermal dysplasia is

characterized by pointed ears, wispy hairs, periorbital
hyperpigmentation, pegged teeth. Photograph courtesy
by Dr Abhijeet Saha, Dr Prerna Batra, MGIMS,
Sevagram, Wardha.
set ears. The hair is sparse, unruly, and lightly pigmented and eyebrows and lashes are
sparse and absent. Anodontia or hypodontia with widely spaced, conical teeth is a consistent
feature.
Skin biopsy is diagnostic.
Treatment is symptomatic.
HYPOMELANOSIS OF ITO (Figs 2.32A and B)

The skin lesions have characteristic linear areas of depigmentation and hyperpigmentation
over the limbs and trunk, which follows the lines of Blaschko. They also appears as whorls.
Associated anomalies are mental retardation, seizures, and microophthalmia.
CT brain reflects cerebral atrophy; sometime whole of one side is involved.
It is etiologically a heterogeneous group frequently indicative of chromosomal or genetic
mosaicism. Recurrence risk is low except in those patients with balance translocation.
Figs 2.32A and B: Hypomelanosis of Ito: (A) A five-year-old patient with linear depigmented areas and
hyperpigmentation along side, distributed along Blaschkos lines (B) Note streaky distribution of hypopigmentation
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REFERENCES
1. Mulliken JB, Glowacki F: Hemangioma and vascular malformation in infants and children; a classification
based on endothelial characteristics, Plast Reconstr Surg 1982;69:412.
2. Mulliken JB, Young A: Vascular birth mark: hemangioma and malformation, Philadelphia 1988 WB Saunders,
77.
3. Lynn A, Brozenza SJ et al: Nevus of ota acquisita of late onset. Cutis 1993;51:194.
4. Purvis RS, Tyring SK: An outbreak of Lindane resistance scabies treated successfully with 5 percent
permethrin cream. J.Am.Acad.Dermatol, 1991;25:1015.
5. Orkin M, Maiback HI, Scabies therapy- 1993 Semin Dermatol, 1993;12:22.
6. Dermatofibroma: Nelson textbook of Pediatrics, 17th edition, 2004; Chapter 660:2247.
SUBASH/NMC15-1393
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Neonatology
ERYTHEMA TOXICUM (Fig. 3.1)

Extremely common benign neonatal skin condition seen in 50 percent of term infant and
less commonly in premature baby.1
It is blotchy, erythematous macule 2 to 3 cm in diameter with a tiny 1 to 4 mm central
vesicle or pustule. It begins at 24 to 48 hr of age. Seen over chest, back, face and proximal
extremities sparing palms and soles.
Central vesicles may contain numerous eosinophil and peripheral blood contains eosinophilia
up to 20 percent.
It persists for brief duration and resolve spontaneously and no therapy is required.
Fig. 3.1: Erythema toxicum (Flea bitten dermatitis of newborn)
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MONGOLIAN SPOT (Figs 3.2A to C)

The Mongolian spot is a blue-black macule over lumbosacral area in up to 90 percent of
Asian, black and American Indian babies.2 It is also seen over shoulder and back and may
extend to buttock and extremities.
It is observed at least 100 times more frequently than any other skin birthmark.3
Pathogenesis of Mongolian spot consists of spindle shaped cells that contains pigments and
are located surrounding the eye along with scleral involvement (Nevus of Ota), or around
chest and shoulder (Nevus of Ito). Most cases are present at birth, but some acquired.
It resolves spontaneously and completely within 5 to 6 years in 98 percent cases.
Figs 3.2A to C: Mongolian spot. (A and B) One-month-old baby with an extensive bluish macule covering
almost whole of the back and lower limb, anterior chest and abdomen (C) Bluish macule over left lower
quadrant of abdomen in a two-year-old child. One has to differentiate it from bruises when intentional injury
is suspected
SALMON PATCH (Fig. 3.3)

This macular hemangioma is a flat pink macular lesion found on the forehead, upper eyelid,
nasolabial area, glabella or nape of the neck (stork bite). They consist of distended dermal
capillaries. It is the most common vascular lesion of the newborn. Most of the lesions resolve
by one year of age.
Fig. 3.3: Salmon patch on both upper eyelids.

Photograph courtesy: Dr Ramesh Bhatt, KMC
Manipal.
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MILIA (Figs 3.4A to C)

Milia are small superficial inclusion cysts, which are caused by blockade of pilosebaceous
gland of newborn. They are tiny 1 to 2 mm white papules more prominent over cheek, nose
nasolabial fold and chin. It is seen in 25 to 40 percent of newborn. It is self-limiting disease and
lesion resolves by around first month. Persistent milia points, to rule out the presence of oralfacial-digital syndrome type I. These cyst are also present over palate in midline and is called as
EBSTEIN PEARL. About 40 percent infant has milia over face and 60 percent over palate. This
retention cyst also present prepuce called as PREPUCIAL EBSTEIN PEARL.
C
Figs 3.4A to C: Milia. Sebaceous gland hyperplasia over nose (B) Ebstein pearl
on the hard palate (C) Ebstein prepucial pearl at 5 o clock position.
Photograph courtsey: Dr Ramesh Bhatt, KMC Manipal
JUNCTIONAL NEVUS (Fig. 3.5)

Junctional nevi are brown or black and flat to slightly raised lesions present at birth. They are
composed of nests of cuboidal cells with melanocytes and occur at the border of dermis and
epidermis. They are benign lesions needing no treatment unless excision is desired for cosmetic
reasons.
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Fig. 3.5: Junctional nevus. Photograph courtsey:

Dr Ramesh Bhatt, KMC Manipal
CUTIS MARMORATA (Fig. 3.6)

It is common finding in normal infant, and is evident as fine reticular mottled appearance of the
skin. It is thought to be due to vasomotor instability and is seen more in premature baby. It can
also be associated with septicemia, hypothyroidism and central nervous system disorders, so
one should be watchful for these associations.
Fig. 3.6: Cutis marmorata. Note the reticular

and mottled skin in a premature newborn
baby
CEPHALOHEMATOMA (Figs 3.7A to E)

Definition: It is a traumatic collection of blood over subperiosteal region of cranial bone.
Etiology. It is due to rupture of small blood vessel of periosteal region as a result of prolong
labor.
CLINICAL FEATURES
1. Seen more in primparous mother and during vaginal delivery but is also noticed in cesarean
section delivery.
2. Swelling gradually enhances in size, which may take several hours to few days. It is largest
on 2 to 3rd day. It is usually unilateral but can be bilateral in 15 percent cases. Swelling is
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Neonatology
Figs 3.7A to E: Cephalohematoma (A) Note the left parietal cephalohematoma (B) Note the huge clearly
demarcated and not crossing the midline is left parietal hematoma in clean shaved skull. (C to E) A 9 months
old child presented with persistence of the cephalohematoma, examination revealed bony consistency due to
secondary calcification X-ray skull and CT scan skull confirms calcified cephalohematoma
confined to the surface of one of the cranial bone and it doesnt cross the midline. The
swelling is firm and sharply demarcated boundaries.
3. X-ray skull reveals a linear fracture in 5 percent in unilateral cephalohematoma and 18
percent in bilateral cephalohematoma. Calcification is seen in at the end of 2 weeks.
Complication: Anemia and hyperbilirubinemia is seen depending on amount of blood collected
in hematoma. Infection of collected blood may take place in infected newborn.
Differential diagnosis mainly with caput succedaneum but also from encephalocele and cranial
meningocele.
Caput succedaneum
1. Diffuse soft swelling vaguely demarcated
2. May cross-mid line
3. Collection of blood is above periosteum.
Cephalohematoma
Firm, fluctuant and localization
Sharply demarcated.
Doesnt cross mid line.
Collection of blood is below periosteum.
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Treatment: doesnt require treatment rarely blood transfusion is required if hematoma is large.
Follow up: Cephalohematoma usually disappears in 2 to 12 weeks depending on size. A skull
X-Ray at 4 to 6 weeks is some time required to exclude the formation of leptomeningeal cyst.
Sometime neonatal cephalohematoma persists in adult life as bony protuberance with no
symptoms and is known a cephalohematoma deformance of Schuller.
MASTITIS NEONATORUM (Figs 3.8A and B)

DEFINITION
It is infection of breast tissue affecting full term infants 1 to 5 weeks postnatally.
Mostly seen in full term infant it doesnt occur in premature infants.
Infection occurs through the retrograde entry of bacteria present on the skin through the
ducts into the breast tissue leading to cellulites and abscess formation (Fig. 3.8B).
Most common pathogen is Staphalococcus aureus in more than 90 percent cases followed
by other pathogens like E.coli, Proteus, Group D Streptococcus, Pseudomonas, Group B
Streptococcus and anaerobic bacterias.
Cellulitis and local spread are the most common complications.
Figs 3.8A and B: Mastitis neonatorum. (A) Physiological enlargement of breasts typically seen as symmetrical
enlargement of breasts. It is more common in post mature infants. (B) Cellulites of left breast. It is unilateral with
signs of inflammation, needs antibiotics for treatment
TREATMENT
Proper antibiotic coverage is required for 7 to 10 days.
It has to be differentiated from physiological enlargement of breast, which occurs in full
term babies on 3rd and 4th day and persists for few days. It is thought to be due to lack of
inactivation of maternal hormones (Progesteron and estrogen) by neonatal liver. No treatment
is required, just psychological reassurance to mother is needed.
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Neonatology
SUPERNUMERARY NIPPLES (Fig. 3.9)

These are oval pigmented spot half the size of normal nipple situated any where over the milk
line. They are common in dark pigmented races.
Fig. 3.9: Bilateral supernumerary nipple, left one is situated

inferiorly as compared to right side on the milk line
NEONATAL TEETH (Fig. 3.10)

Occurs in 1 in 2000 newborn infants. Usually these two are
lower central incisors.
Natal teeths are present at birth, whereas neonatal teeth
are seen in the first month of life. It is loosely attached to
gingival margins.
Natal teeth are associated with cleft palate, Pierre Robin
syndrome, Ellis-van Creveled syndrome, Hallermans Strieff
syndrome. A family history is present in 15 to 20 percent
cases.
Complication may come as pain and abrasion of the nipple,
aspiration of tooth, tip or the tongue may be amputated
Fig. 3.10: Neonatal teeth. Newborn
accidentally (Riga-Fedes disease).
with lower central incisor teeth
Treatmentextraction to decide on an individual basis.
NEONATAL HYMENAL TAGS (Fig. 3.11A)

It projects from hymen and of no clinical significance and it disappears in few days
(Fig. 3.11A).
NEONATAL VAGINAL BLEED (Fig. 3.11B)

It is due to effect of maternal hormones which causes hyperplasia and shedding of endometrium,
causes maximum bleeding between 3 and 4 days and subsides of its own during 2nd week.
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B
Figs 3.11A and B: (A) Neonatal vaginal tag (B) Neonatal vaginal bleeding.
Note the stains of blood around labia
STERNOCLEIDOMASTOID TUMOR (Fig. 3.12)

Large infants who have had difficult vertex deliveries, breech and with hip dysplasia are at
special risk of development of sternocleidomastoid tumor.
It is produced by bleeding within the substance of sternocleidomastoid muscle and resulting
into raised pressure within the muscle compartment leading to focal ischemia, secondary
fibrosis and contracture within the muscle results in clinical torticollis.
Some infant dont have tumor but may have torticollis
secondary to in utero positioning.
The tumor may be palpable shortly after birth and
disappears later. Contracture of muscle results in typical
head tilt and rotation.
In such patient passive stretching and exercise has to be
instituted early, results in early resolution.
The parents have to be instructed to rotate the chin gently
towards the side of head tilt while simultaneously bringing
the head to the upright position. As the range of motion
improves, the chin can be rotated past neutral and the
head tilted towards the opposite side. Good results are
anticipated in majority. Resistant to this measure requires
Fig. 3.12: Sternocleidomastoid tumor
orthopedic evaluation.
MILIA CRYSTALLINA (SUDAMINA) (Fig. 3.13)

It is white pinpoint vesicle occurs due to blockade of sebaceous gland. The incidence is greatest
in second week of life and is related to excessive warmth and humidity. It differs from milia by
its lack of white opacity. They are more on head and chest. Treatment consists of reassurance
and avoidance of precipitating causes.
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Neonatology
Fig. 3.13: Milia crystallina. Note the tiny pinpoint white vesicles around nose and cheeks
MILIARIA RUBRA (Fig. 3.14)

Miliaria rubra (prickly heat) is characterized by small discrete erythematous papules, vesicles
or papulovesicles which are surrounded by erythema.
It is seen over covered areas of body where the baby gets overheated.
It is best to uncover the areas involved so as to avoid excess of heat.
Fig. 3.14: Miliaria rubra.There is discrete erythematous papule

vesicles and papulo vesicles surrounded by erythema
ACNE NEONATORUM (Fig. 3.15)

It is common self-limiting skin condition of newborn, transitory and self-limiting disorder.
It has typical facial distribution of the comedones see in acne in adolescence. The chest and
back are rarely involved.
Neonatal acne is said to be due to stimulation of immature sebaceous gland by maternal
androgen.
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Fig. 3.15: Neonate with typical facial

distribution of acne neonatorum
BULLOUS IMPETIGO (Fig. 3.16)

Bullous impetigo or pamphigus neonatorum or superficial pyoderma due to gram-positive
organism is common in tropical countries.
The skin lesions appear after 48 hours of age in the form of thin-walled vesiculopustules
surrounded by erythematous macule.
They are mostly seen at scalp, neck, axilla and groin.
Treatment: Scattered or isolated lesions should be punctured and painted with triple dye.
Infants with severe involvement need oral antibiotics like erythromycin. To prevent infection,
skin prophylaxis with hexachlorophene application is advised, but skin has to be rinsed after
it to prevent systemic absorption.
Fig. 3.16: Bullous impetigo. Lesions are common

in moist region like groin, axillary folds, neck
and presents as superficial bullae, which are
wrinkled, and rupture easily producing ulcers
and crusts
BABY OF DIABETIC MOTHER (Figs 3.17A and B)
These infants are remarkable not only because like fetal versions of Shadarch, Meshach
and Abednego, they emerges at least alive from within the fiery, metabolic furnace of diabetes
mellitus, but because they resemble one another so closely that they might be related. They
are plump, sleek, liberally coated with vernix caseosa fully faced and plethoricThey convey
a distinct impression of having had such a surfeit of both food and fluid pressed upon them
by an insistent hostess that they desire only peace so that they may recover from their
excess. And on the second day, their resentment of the slightest noise improves the analogy
while their trembling anxiety seems to speak of intrauterine indiscretions of which we are
nothing.4
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Neonatology
Figs 3.17A and B: (A) Infant of diabetic mother. See the plumy plethoric infant with cushingoid facies
(B) Note the hairy pinna. Photograph courtesy: Dr Ramesh Bhatt, KMC Manipal
Infants of diabetic mother tends to be large and plump as a result of increased body fat and
enlarge viscera, with puffy cushingoid facies with hairy pinna.
There may be normal, LBW or preterm delivery.
The complications includes:
MetabolicHypoglycemia, hypocalcemia, hypomagnesemia.
HematologicPolycythemia, hyperbilirubinemia.
Vascularespecially renal vein and cerebral thrombosis.
RespiratoryHyaline membrane disease, TTN.
Sepsisdue to decrease complement, chemotactic factors, opsonin activity and cellular
immunity.
AnomaliesCNS- spinal anomalies from hemivertebrae to caudal regression syndrome,
anencephaly.
CVS- TGV, VSD, PDA and hypertrophic cardiomyopathy.
GIT- spastic left microcolon due to slight delay in the development of left side microcolon.
Management
Admission in NICU, full physical examination for anomalies, test immediately for blood
glucose.
Blood for Hb, Hct, TLC glucose, calcium, Mg and PO4.
Septic workup accordingly.
CXR in case of RDS to rule out cardiac anomalies.
Monitoring of blood glucose by dextrostrips 4 hourly 3 days, 6 hourly 2 days, then
8 hourly 3 days.
Manage other metabolic problems accordingly.
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BECKWITH-WIEDEMAN SYNDROME (Figs 3.18A to C)

This syndrome includes intractable hypoglycemia, large size infant, macroglossia,
viceromegaly, mild microcephaly, omphalocele facial nevus flammeus; horizontal earlobe
crease either in front or back of the pinna should be searched.
The viceromegaly chiefly involves enlargement of liver and kidneys and is due to noncystic
hyperplasia.
The hypoglycemia is responsive to hydrocortisone analogue therapy, which is usually required
for 1 to 4 months only, thus in this condition the hypoglycemia is severe and more persistent.
There are increased chance of tumors, e.g. Wilms, hepatoblastoma, gonadoblastoma and
renal medullary dysplasia. The frequency of tumor is around 6.5 percent. Obtaining
ultrasonogram and measuring alpha-fetoprotein every 6 months until the patient is 6 years
of age to rule out Wilms tumor and hepatoblastoma. Presence of hemihypertrophy has
higher risk of associated malignancies.
Inheritance is sporadic, but familial inheritance has also been noted. The chromosomal
analysis may be normal but 11p duplication and translocations have been found. The syndrome
can also be caused by disomy for the segment of 11p15.5 containing the Igf 2 gene (insulin
like growth factor II gene).
The treatment is same for hyperinsulinemic hypoglycemia but the treatment is prolong with
regular monitoring. In refractory case subtotal pancreactomy may be required.
Figs 3.18A to C: Beckwith-Wiedeman syndrome (A) (B) Large for date baby presented with hypoglycemic
convulsion, omphalocele, macroglossia, polydactyly (C) Note horizontal ear lobe crease
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ASYMMETRIC CRYING FACIES (Figs 3.19A to C)

Congenital hypoplasia or aplasia of the depressor anguli oris muscle is a minor congenital
anomaly that causes asymmetric facies. The prospective survey of consecutive birth yields
an incidence of 0.5 to 1 percent.
There is no pathogeneses mechanism suggested, it probably represents hypoplasia or aplasia
of depressor anguli oris muscle.
An autosomal dominant inheritance with variable expression is seen in some family some
time complex multifactorial inheritance is noted.
The typical clinical findings are failure of one corner of mouth to move downward and
outward with crying or grimacing. All other facial movements are symmetric. Some time
absence of muscle is palpable as a thinner lower lip on the paralyzed side. Feeding difficulties
are not seen in these cases. Forehead wrinkling, eye closure and nasolabial folds are normal
on both the sides of face. The other anomalies associated are cardiovascular anomalies are
most common also called as cardiofacial syndrome (VSD, TOF, PDA, Coarctation of aorta
etc.), genitourinary, musculoskeletal (Barrel thorax, high placed scapula), cervicofacial
(micrognathia, cleft palate, short neck), respiratory (congenital lobar emphysema).
The diagnosis rests on clinical observation, cardiac assessment, and EMG studies. The
EMG study helps differentiating from traumatic facial nerve palsy. In hypoplasia of the
muscle the conduction velocity and latency of facial nerve is normal, fibrillations are not
seen at depressor anguli oris muscle, motor unit potential are absent or decreased in number
at the site of the depressor anguli oris muscle.
Treatment: No treatment is required for this entity, but proper screening is required for
cardiovascular defects.
Prognosis: The absence of depressor anguli oris muscle in older children and adults is not
noticed because it is not a significant component of facial expression. As the child grows
and increasingly uses the simulating muscle (risorius and zygomaticus), the facial asymmetry
becomes less prominent. The most important clinical clue in such situation is rule out facial
palsy and search for other congenital anomalies.
Figs 3.19A to C: Absence of depressor angularis oris muscle. (A) Neonate during sleep. This abnormality is only
detected when the child cries or laugh, hence always have a look during cry. (B) Absence of right depressor
angularis oris muscle in the same child during cry. (C) Facial palsy (Left). Absence of DAOM has to be
differentiated from facial palsy. In facial palsy affected side eyes remains open, absence of nasolabial folds and
mouth droops and drawn towards healthier side
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AMNIOTIC BAND (Figs 3.20A, B and 3.21)

DEFINITION
The deformities caused by small strands of amnion around the developing structure.
SYNONYM
Dzerrant tissue bands, Adam complex, Amniotic band disruption complex.
ETIOLOGY
Sporadic condition.
ETIOPATHOGENESIS
Various theories are proposed.
1. Amniotic membrane rupture is most accepted theory. The early rupture amnion results
in mesodermic band that emanates from the chorionic side of the amnion and insert on
the fetal body leading to amputation, constriction and postural deformities secondary to
immobilization.5 The earlier the insult the more severe is the lesion. Amniotic rupture in
first week of pregnancy results in cardiofacial and visceral defect, whereas during the
second trimester it may lead to limb and digital constriction and amputation.6
2. An alternate view is that amniotic band syndrome is the consequence of an insult that
results in typical malformation as well as ectodermal and mesenchymal disruption.
3. Vascular compromises may have role in formation of these defects.
CLINICAL FEATURE
Depends on area of the body involved

Limb defect- multiple, asymmetric
Constricting ring of the limb, digits
Amputation of the limb and digits
Pseudosyndactyly
Abnormal dermal ridge patterns
Simian crease.
Figs 3.20A and B: Amniotic band syndrome. (A) Amputation of both feet. (B) Amputation of half upper limb
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Fig. 3.21: Few examples of amniotic band disruption seen in practice
CRANIOFACIAL DEFECT
Encephalocele, multiple asymmetric

Anencephaly
Facial clefting- lip, palate
Severe nasal defects
Asymmetric microphthalmia.
VISCERAL DEFECT
Gastroschisis
Omphalocele.
DIAGNOSIS
At the time of delivery the examination of placenta and membrane helps, there is multiple
fibrous strands of amnion extend from the placental insertion of umbilical cord to the surface
of the denuded chorion or float freely within the chorionic sac.
MANAGEMENT
1. Obstetric management: Fetal karyotype is indicated because congenital anomalies may be
due to chromosomal abnormalities. The option to terminate pregnancy should be taken on
the basis of type of anomalies and result of karyotyping.
2. Management later in life needs plastic surgery consultation.
3. Counseling and explaining the chances of repetition of anomalies is negligible in subsequent
pregnancy.
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CONGENITAL SYPHILIS (Fig. 3.22)

The clinical feature of congenital syphilis is similar to secondary stage of acquired syphilis
and is characterized by appearance of mucocutaneous lesion.
The typical erythematous maculopapular rash with vesiculobullous lesions and desquamation
is classically distributed over hands and feet (Washerman hands and feet).
The skin lesions are highly contagious and may recur over a period of weeks and are
curative.
Close watch is to be given till treponemal serology tests are negative.
Lesions on the palms ans soles are considered to be syphilitic until proven otherwise.
Fig. 3.22: Congenital syphilis Desquamation and exfoliation of palms and soles
with no rash elsewhere is highly suggestive of congenital syphilis
ORAL THRUSH (Fig. 3.23)

This is superficial infection of the mouth and is extremely
common in neonates. It is caused by Candida albicans,
a part of normal flora of the skin in most cases.
It is trivial but distressing superficial infection. Mouth
appears as white plaque, which can not be wiped off
without causing bleeding. It has to be differentiated from
milk stain, which can be easily wiped off.
Nystatin oral suspension topically four times a day for 5
days is efficacious. Other drugs like Clotrimazole,
Ketoconazole, Gentian violet, Haymysin, Miconazole are
also effective.
Fig 3.23: Oral thursh in a neonate
SINGLE UMBILICAL ARTERY (SUA) (Fig. 3.24)

Synonym: Absence of umbilical artery, umbilical artery agenesis, umbilical artery atrophy.
Epidemiology: Studies indicates that SUA is present in one percent of all deliveries. The method
of examination of the umbilical cord and patient race are important factors in determining the
prevalence of this anomaly.
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Gross examination of cord underestimates the prevalence.
The location of the section is also important, since the two
arteries may fuse close to the placental insertion.
SUA is less common in Japanese and black and more common
in eastern Europeans.
SUA is more common in autopsy series and stillbirths.
Prevalence is more common in third trimester than in early
in very early embryos (Less than 8 weeks old).
There is greater tendency of male to be malformed in
prospective studies.
The prevalence of SUA is three to four times higher in multiple
gestations.
Fig. 3.24: Single umbilical artery

(Two vessel diseases)
PRENATAL DIAGNOSIS
Normal cord contains two arteries and one vein readily visible in transverse or longitudinal
sections. In longitudinal sections, the helicoidal shape provides a typical braided appearance to
the umbilical cord. An SUA can be seen readily in transverse sections by identifying a cord with
only two vessels. In longitudinal section, a loss of braided pattern of the umbilical cord is
visualized.
WHY IMPORTANT TO DIAGNOSE SUA ?
Identification of SUA is an indication for a careful search for associated anomalies including
echocardiography. All fetuses with SUA should have echo evaluation of heart, since cardiovascular
abnormalities are among the most frequent one. These infants are at risk for IUGR, hence serial
examinations are needed.
ASSOCIATED ANOMALIES
CVS- VSD and conotruncal anomalies.

Cleft lip, ventral wall defect, and esophageal atresia.
CNS- spina bifida, hydrocephaly, holoprosencephaly.
Diaphragmatic hernia, cystic hygroma.
Genitourinary- Hydronephrosis, dysplastic kidneys
Digital anomalies- polydactyly and syndactyly.
OBSTETRICAL MANAGEMENT
Identification of SUA should prompt a search for associated anomalies.
Fetal echocardiography.
Karyotype determination.
Serial USG for identification of IUGR.
Pediatrician should be alerted to the diagnosis of SUA.
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BIRTH TRAUMA (Figs 3.25A, B and 3.26A, B)

Introduction: The birth trauma in its wide sense includes the perinatal complications that
may become apparent at birth or at birth within the first few days.7 Majority of them are
mild and have favorable outcome, severe injuries may cause infant death or permanent
handicaps. Prompt evaluation and rapid institution of appropriate therapy will minimize the
morbidity and mortality caused by birth trauma.
Birth trauma is more common in large babies; in prolong labor and breech deliveries. Large
babies are prone to fracture and nerve injuries and visceral injuries.
Fetal presentation and type of delivery are closely related to birth trauma. Head injuries are
known to occur more often with forceps delivery than with breech deliveries. Breech deliveries
are more associated with CNS, spinal cord, nerve and visceral injuries. Fracture clavicle is
seen in cephalic deliveries, facial nerve palsy is seen with forceps deliveries and facial
presentation.
Pseudoparalysis is the most common manifestation of underlying musculoskeletal birth
trauma. Management of birth fractures, like all neonatal fractures, is almost always
nonoperative. Physeal fractures may be difficult to recognize radiographically because there
is no calcification of the epiphysis to show the displacement of the epiphysis relative to
metaphysis. The limb may appear deformed or the joint may appear dislocated or swollen,
whereas the true pathology is a fracture through the physis.
Clinical examination, ultrasonography, arthrography, arthrography and MRI can be useful in
the diagnosis of physeal fractures. Multiple fractures in the neonate should promt investigation
of a systemic condition such as osteogenesis imperfecta.
Abrasion and laceration: They are seen after forceps deliveries and emergency cesarean
section. Suturing needed for laceration and application of ointment over abrasion (Figs
3.25A and B).
Clavicular fractures: Clavicle fracture is the most common fracture in the newborn, occurring
in 1 to 13 of all birth (Fig. 3.26A).
Figs 3.25A and B: Birth trauma. (A) Lacerated wound accidentally induced by scalpel blade while extracting the
baby vaginally in face presentation. (B) Stillborn baby presented as shoulder dystosia. Note extensive injury and
hematoma over right shoulder and right upper arm
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Figs 3.26A and B: Birth trauma. (A) Right clavicle fracture. (B) Fracture middle shaft of humerus
Clinical feature: The standard sign of inflammation including tumor, rubor, dolor, and calor
can be present over the site of fracture. It is normally easy to palpate the clavicular margins
in the newborn, tumor can make this palpation difficult. Pseudoparalysis may also be
present as the infant attempts to minimize movement on the affected side to minimize pain.
Infant may also turn their head towards the affected side, there by relaxing the ipsilateral
sternocleidomastoid muscle and reducing its pull on the fractured clavicle. The moros reflex
may also be asymmetrical in acute stage. The fracture is usually greenstick and is in the
middle third.
Treatment: The isolated clavicle fracture requires minimal intervention and does not generally
require orthopedic consultation. Regardless of the degree of immobilization, the fracture
typically stabilizes 7 to 10 days following injury. Using a safety pin to fasten the ipsilateral
sleeve to the torso of the babys garment provides adequate immobilization for comfort and
healing to take place. Figure of eight bandage can be applied when the displacement is big.
Fracture of shaft of long bones- fracture of humerus is usually transverse or spiral, most
often involves middle third of the shaft. Treatment consists in restriction of movements by
traction, splinting or suitable bandage for a period of 3 weeks.
ERBSDUCHENNE PALSY (Fig. 3.27)

Erbs-Duchenne Palsy is most common brachial plexus injury accounting for 70 to 80
percent of cases. The upper arm paralysis is due
to injury to C5 and C6 roots.
Most of these injuries are seen in large full term
newborn of primiparous mother following
prolong and difficult labor.
The arm is limply adducted and internally rotated
at the shoulder with extension and pronation at
the elbow, so that partially flexed fingers face
backward (Waiters Tip Posture). Presence of
Fig. 3.27: Erbs palsy (L), majority of these
hand grasp is a favorable prognostic sign.
injuries resolves spontaneously in 3 to 4 weeks
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Clinically there is involvement is unilateral in 90 percent of cases. Right arm is affected

twice as often as left. The affected arm assumes a characteristic posture, i.e. limply adducted
arm with internal rotated at shoulder, elbow extended, forearm pronated and wrist flexed.
Biceps and bracheoradialis reflexes are absent. Triceps reflex is absent with the involvement
of C7. Moros reflex remains asymmetric.
Management is focused to the prevention of contracture by passive immobilization and
appropriate positioning. (a) Arm should be abducted to 90 degree, with shoulder at external
rotation, full supination of forearm and slight extension at wrist with palms turns towards
the face. (b) This position can be maintained either by putting a towel over the wrist and
fixing it to the mother or by using brace or splint it during the first 1 to 2 weeks.
HEMORRHAGIC DISEASE OF NEWBORN (HDN) (Figs 3.28A to C)

HDN occurs in 1 per 200 to 400 neonates who are not given vitamin K prophylaxis.
After birth there is moderate decrease in vitamin K dependent clotting factor like II, VII, IX
and X by 48 to 72 hrs, which gradually touches normal level by 7 to 10 days.
It is characterized by bleeding from gastrointestinal tract, umbilicus, nasal, subglial and
intracranial. The platelet count is normal. The PT and PTT are prolonged.
HDN is also noticed in babies delivered of mother on phenytoin, primidone, methsuximide
and phenobarbitone. These drugs are often related, causing vitamin K deficiency in newborn.
The mother should be given vitamin K 24 hrs prior to delivery 10 mg of Vitamin K1 IM.
Treatment- all infants should be given 1mg of natural oil soluble vitamin K intramuscularly
(phylloquinone) at the time of birth. If there is active bleeding, 10 ml/kg fresh frozen plasma
is given and an iv dose of 1 mg of vitamin K is given.
Figs 3.28A to C: (A) Hemorrhagic disease of newborn. Profuse bleeding from cord, with prolong PT and PTT
and normal platelet count. This patient responded with injection vitamin K and FFP. (B) Bleeding from oral cavity
appeared on day 2, responded well by injection Vitamin K, his mother was on phenytoin during her pregnancy
period. (C) Malena in newborn period. This was swallowed maternal blood which was confirmed by Apt test
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Delayed hemorrhagic disease of newborn can occur at 4 to 12 weeks of age. The usual
precipitating factors are malabsorption in cystic fibrosis and prolong use of broad-spectrum
antibiotics.
An epidemiological study has shown a statistical association between neonatal vitamin K
injection and subsequent risk of malignancy. Although other studies have failed to confirm
this, a small but increased risk of leukemia cannot be excluded. However, the risk of HDN
is certain; that of cancer is not.
Apt test: Apt test is used to rule out maternal blood. If the child is well and only gastrointestinal
bleeding is noted, an Apt test is performed on the gastric aspirate or stool to rule out the
presence of swallowed maternal blood. Procedure consists of mixing 1 part of stool or
vomitus with 5 parts water, centrifuge it and separate the clear pink supernant fluid
(hemolysate); add 1ml of sodium hydroxide 1 percent to 4 ml hemolysate. Since the fetal
hemoglobin is resistant to alkali the color of the fluid will remain pink and adult hemoglobin
is broken down by alkali and gives yellow brown color to the fluid.
TWIN TO TWIN TRANSFUSION (Figs 3.29A and B)

Twin to twin transfusion syndrome (TTTS) is rare condition complicating 10 to 15 percent
of monochorionic multiple pregnancy. Intertwin vascular anastomoses and transfusion is a
normal event. Syndrome develops when blood flow is unbalanced.
Recent studies suggest a paucity of bi-directional superficial anastomoses failing to
compensate for hemodynamic imbalance resulting from unidirectional transfusion along
deeper arterio-venous anastomoses.
TTTS is associated with high rates of perinatal mortality.
Acute and chronic forms exist and severity varies. The donor twin is often smaller,
hypovolemic, anemic and develops congestive heart failure. The recipient is usually heavier
and polycythemic. Second trimester ultrasound usually detects the condition. Serial
amnioreduction is the recommended therapy.
Figs 3.29A and B: Twin to twin transfusion. (A) shows the pale donor twin (on the left) and the plethoric
recipient (on the right). (B) shows similarity of twins after partial exchange for the symptomatic, polycythemic,
recipient twin. Photograph courtesy: Dr Ramesh Bhatt, KMC Manipal
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Neonates are considered having TTTS if any two of the following criteria are satisfied:
1) inter-twin hemoglobin difference > 5 g/100 ml (PCV>15%), (2) pallor in one twin and
plethora in the other, (3) inter-twin birth weight difference > 15 percent. Medical care of
twins after birth is directed towards problem related to anemia, polycythemia and hydrops.
NONIMMUNE HYDROPS (Figs 3.30A and B)

Definition: Hydrops fetalis is a severe, life-threatening problem of severe edema (swelling)
in the fetus and newborn. It is also called hydrops. There are two types of hydrops:
Immune - results when the mothers immunesystem causes breakdown of red blood
cells in the fetus. This is the most dangerous problem of blood group incompatibility
between the mother and baby.
Non-immune - the most common type; can result when diseases or complications interfere
with the babys ability to manage fluid.
Cause: Hydrops develops when too much fluid leaves the bloodstream and goes into the
tissues. Many different diseases and complications can cause hydrops, including the following:
Immune hydrops may develop because of Rh disease in the mother. When an Rh negative
mother has an Rh positive baby, the mothers immunesystem sees the babys Rh positive
red blood cells as foreign. When the mothers antibodies attack the foreign red blood
cells, they are broken down and destroyed, resulting in anemia. Hydrops can develop as the
babys organs are unable to compensate for the anemia. The heart begins to fail and large
amounts of fluid build up in the babys tissues and organs.
Non-immune hydrops includes all other diseases or complications that may interfere with
the babys ability to manage fluid. There is no one mechanism to explain non-immune
hydrops. Some of the diseases or complications that are often associated with hydrops
include the following:
severe anemias
congenital infections (infections present at birth)
heart or lung defects
chromosomal abnormalities and birth defects
liver disease
In addition to a complete medical history and physical examination, diagnostic procedures
for hydrops fetalis may include:
Figs 3.30A and B: (A) Non immune hydrops. (B) Abortus dipicting the picture of hydrops.
Photograph courtesy: Dr Sarita Agrawal, Bilaspur
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ultrasounda diagnostic imaging technique which uses high-frequency sound waves

and a computer to create images of blood vessels, tissues, and organs. Ultrasounds are
used to view internal organs as they function, and to assess blood flow through various
vessels.
fetal blood samplingdone by placing a needle through the mothers uterus and into a
blood vessel of the fetus or the umbilical cord.
amniocentesiswithdrawing some of the amniotic fluid for testing.
Treatment of hydrops depends on the cause. During pregnancy, hydrops may be treatable
only in certain situations. Management of hydrops in newborn babies may include:
help for respiratory distress using supplemental oxygen or a mechanical breathing machine
removal of excessive fluid from spaces around the lungs and abdomen using a needle
medications to help the kidneys remove excess fluid.
EPIGNATHUS (Figs 3.31A and B)

Definition: A teratoma that arises from the oral cavity or pharynx.
Incidence: Two percent of all pediatric teratomas occurs in nasopharyngeal area (including
oral, tonsillar and basicranial area).
Pathology: Most of the tumors arise from the sphenoid bone. Some arise from the hard and
soft palate, the pharynx, the tongue and jaw. From their site of origin the tumor grows into
the oral cavity or nasal cavity or intracranially. Most tumors are benign. Histologically, they
consist of tissues derived from any of the three germinal layers. Obstruction of the mouth
is responsible for polyhydramnios.
Associated anomalies: Six percent of the tumors have associated anomalies. They include
cleft palate, multiple facial hemangiomas, branchial cysts, hypertelorism, umbilical hernia
and congenital heart defect.
Figs 3.31A and B: Epignathus. (A) Extremely premature baby with epignathus.
(B) Full term baby with the mass from the hard palate
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Diagnosis: Antenatal sonographya solid tumor emanating from the fetal oral cavity is
suggestive of this condition. Calcification and cystic component can be visualized.
Prognosis: It depends on size of the tumor and involvement of vital structures. Polyhydramnios
is associated with poor prognosis. Major cause of death is asphyxia because of airway
obstruction.
SACROCOCCYGEAL TERATOMA (Fig. 3.32)

It is the commonest teratoma presenting in the neonatal
period with the majority arising in females.
They are large and tend to be protrude from the space
between the anus and the coccyx (Fig. 3.32). The lesion
is usually covered in the skin. The tumor may extend up
into the pelvis and a large retrorectal component is
palpable.
It may be both solid and cystic in nature. It may contain
tissues representing all three germ cell layers.
The condition may be diagnosed in utero or at birth. Large
tumor may give rise to dystocia and cesarean delivery
may be required. Malignancy may vary from 10 to 50
percent. Alfafetoprotein is a useful tumor marker. Elevated
level at birth may decline following the excision.
Treatment is excision in the first few days of life.
Fig. 3.32: Sacrococcygeal teratoma.

Photograph courtesy: Dr Ramesh
Bhatt, KMC Manipal
OPHTHALMIA NEONATORUM (Fig. 3.33)

Ophthalmia neonatorum due to N.gonorrhoeae is classically an acute purulent conjunctivitis
that appears from 2 to 5 days after birth.
Infants who become infected in-utero may have symptoms
at or shortly after birth. Typically early in the illness, tense
edema of both lids develops, followed by profuse purulent
conjunctival exudates.
If treatment is delayed, the infection progresses beyond
the superficial layers of the eye to involve the subconjunctival connective tissue of the palpebral conjunctivae
and the cornea. Infection of the cornea can lead to
Fig. 3.33: Ophthalmia neonatorum.
ulceration, perforation, or rarely panophthalmitis. In some Photograph courtesy: Dr Abhijeet
instances it may result in loss of the eye.
Saha and Dr Prerna Batra, MGIMS,
Isolation of N.gonorrhoeae from the exudates by culture Sevagram
is the diagnostic gold standard.
Ceftriaxone is the drug of choice.
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EAR ANOMALIES (Figs 3.34A to E)

ABNORMAL PINNA
Abnormality of pinna varies considerably. Fig. 3.34A, shows abnormality in shape of the pinna.
This type of minor abnormality may require surgery for cosmetic reasons.
MALFORMED EAR-LOP EAR
Fig. 3.34B, an unusually prominent or lop ear results from lack of bending of the cartilage that
creates the antihelix. The baby had other features of Townes syndrome. Application of firm
framework or otoplasty may be required for cosmetic correction. Microtia indicate subtle
abnormalities of the size, shape, and location of the pinna and ear canal, or major abnormalities
with only small nubbins of skin and cartilage and absence of the ear canal opening. They are
more anterior and inferior in placement than normal ears. Treatment includes cosmetic
reconstruction. Severe cases may require prosthetic ear.
PREAURICULAR SKIN TAG AND MALFORMED PINNA
Fig. 3.34C, preauricular accessory skin tag has incidence of 1-2/1000. It can be removed for
cosmetic reasons by simple ligation if they are attached by a narrow pedicle. If the pedicle is
broad based or contains cartilage surgical correction may be required.
Figs 3.34A to E: Malformation of ear. (A) Abnormal pinna. (B) Unusually prominent ear or lop ear. (C) Preauricular
skin tag with abnormal pinna. (D) Preauricular skin tag, malformed pinna and absent auditory canal.
(E) Preauricular skin tag with large tragus. Photograph courtesy: Dr Ramesh Bhatt, KMC Manipal
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PREAURICUALR SKIN TAG, MALFORMED PINNA AND

ABSENT EXTERNAL CANAL
Fig. 3.34D, shows malformed or misshapen auricle associated with meatal atresia, the absence
of bony canal. They are commonly associated together in a variety of congenital conditions and
syndromes. They may present as unilateral or bilateral problems. Surgical reconstruction of
pinna and or fashioning of external meatus may be required.
PREAURICUALR SKIN TAG AND LARGE TRAGUS
Fig. 3.34E, shows minor auricular abnormalitya skin tag with a narrow pedicle and large
tragus.
REFERENCES
1. Carr.JA, Hodgman JE. Relationship between toxic erythema and infant maturity, Am.J.Dis.Child
1966;112:129.
2. Cordova A. The Mongolian spot: A study of ethnic differences and a literature review. Clin. Pediatr:
1981;20:714.
3. Aler JC, Holmes LB. The incidence and significance of birthmarks in a cohort of 4,641 newborn. Pediatr
Dermatol 1983;1:58.
4. Farquhar JW. The child of the diabetic women. Arch Dis Child 1959;34:76.
5. Torpin R. Amniochorionic mesoblastic fibrous strings and amniotic band: Associated constricting fetal
malformation or fetal death. Am J Obstet Gynecol 1965;91:65.
6. Higginbottom MC, John KL et al. The amniotic band disruption complex: Timing of amniotic rupture and
variable spectra of consequent defects. J Pediatr 1979;95:544.
7. Koltmier PK. Birth Trauma, Pediatric Surgery 4th edn., Chicago, Year Book Medical Publisher 1986;23037.
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Endocrinology
GYNECOMASTIA (Fig. 4.1)

Gynecomastia is defined as the visible or palpable development of breast tissue in boys and
men. There are four types of gynecomastia.
Type I: (Pubertal gynecomastia or benign adolescent breast hypertrophy). It is common
benign condition of enlargement of breast tissue ranges between 60 and 70 percent seen in
adolescent population. It is firm tender subareolar mass between 1 and 5 mm in diameter.
This is painful swelling especially obvious during changing of cloths. It spontaneously
resolves within 2 years.
Type II: (physiologic gynecomastia without evidence of underlying disease or evidence of
organic disease, including the effect of specific drugs). There is generalized nontender
enlargement of breast. It is important for treating physician to differentiate physiological
enlargement from pathological enlargement. Careful history, time of onset, associated
systemic disease, history of drug ingestion. Good clinical examination includes height, weight,
blood pressure, breast size and tanner staging of breast and genitals.
Fig 4.1: Gynecomastia in 12-year-old boy. If the breast tissue is pinched between
thumb and forefinger and moved upwards towards nipple a feeling of firm, rubbery
feeling of glandular tissue underneath nipple and areola is seen in gynecomastia
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Common causes of type II gynecomastia

1. Idiopathic
2. Familial
3. Specific illness/syndromes
4. Klinefelters syndrome
5. Male pseudohermaphroditism
6. Testicular feminization syndrome
7. Tumorsteratoma, hepatoma, feminising syndrome tumors
8. Leukemias
9. Hemophilia
10. Leprosy
11. Hyper or hypothyroidism
12. Miscellaneous drugsamphetamines, anabolic steroids, cimetidine, clomephine diazepam,
estrogens, digitalis, insulin, testosterone.
Type III: General obesity simulating gynecomastia.
Type IV: Pectoral muscle hypertrophy.
TREATMENT
Pubertal gynecomastia less than 4 cm in diameter requires no therapy except reassurance. It
resolves spontaneously without treatment and in 75 percent cases within 2 years and in
about 95 percent cases within 3 years.
If enlargement is striking macrogynecomastia producing psychological and emotional
problems medical and surgical treatment can be considered.
Drugs are rarely used due to poor success rate. Drugs with antiestrogenic effect like tamoxifen,
arometase inhibitor like testolactone are often used.
SurgeryTransareolar reduction mamoplasty and liposuction.
Indications are:
For persistent macrogynecomastia of four years or longer duration. After four years
breast tissue shows fibrosis and hyalinization, which is frequently irreversible.
For cosmetic reasons.
IDIOPATHIC PRECOCIOUS PUBERTY (Fig. 4.2)

DEFINITION
Precocious puberty is generally defined as the onset of secondary sexual characteristic before
age of 8 years in female and 9 years in male. Idiopathic sexual precocity is 10 times more
common in girls than in boys. However, structural CNS abnormality can be demonstrated in
25 to 75 percent of boys and in some girls with central precocious puberty.
CLINICAL PICTURE
Sexual development can occur at any age and breast enlargement is the first sign and pubic
hairs appear late may be followed by maturation of external genitalia, axillary hairs. Menstruation
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Endocrinology
Fig. 4.2: Idiopathic precocious puberty. Patient aged

6 years with breast enlargement. Osseous
maturation advanced. Estrogen assay was normal.
Intelligence was normal for age
is seen quite early in these patients. The cycles are anovulatary and irregular initially but pregnancy
is seen in some cases as early as 5.5 years. There is advanced bone maturation as a result there
is premature fusion of epiphysis resulting into short stature. Mental development is normal for
age.
INVESTIGATIONS
Serum estradiol concentration is lower or even absent initially as in normal puberty. Immunometric
assay of LH offers greater diagnostic sensitivity using random blood sample. It is positive in
50 to 70 percent of girls with precocious puberty. Osseous maturation is advanced more than
2 to 3 SD. Pelvic USG reveals enlargement of ovaries and uterus. CT and MRI reveals
physiological enlargement of pituitary gland as seen in normal puberty.
TREATMENT
Long acting GnRH analogs like leuprolide 0.3 mg/kg IM every month. Suppression of pituitary
gonadotrophin occurs after 1-2 months. This drug can be withdrawn at normal expected age of
puberty.
CUSHING SYNDROME (CS) (Fig. 4.3)

It is caused by abnormally high blood levels of cortisol or other
glucocorticoids. It can be iatrogenic or due to endogenous cortisol
secretion either by adrenal tumor or to hypersecretion of ACTH
from pituitary.
CAUSES
Excess of glucocorticoids in children is uncommon; and most of
CS is iatrogenic. In infants adrenocortical tumor is responsible for
Fig. 4.3: Cushing syndrome. General obesity, round,

plethoric moon face, and increased skin folds.
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CS and in children above 7 years important cause is Cushings disease, i.e. excess of ACTH
secreted by pituitary adenoma which causes bilateral adrenal hyperplasia.
CLINICAL PICTURE
In young children moon facies, double chin, buffalo hump, obesity, musculinization,
hypertrichosis on face and trunk, pubic hair, acne, clitorial enlargement, impaired growth. In
older children, growth failure, obesity, purplish striae, delayed puberty, weakness, headache
and emotional liability occur.
LABORATORY FINDINGS
includes polycythemia, lymphopenia, eosinopenia, abnormal glucose tolerance, lack of diurnal
rhythm, elevated urinary and serum cortisol, osteoporosis, variable bone maturation, and
suppressed growth hormone. MRI brain reveals pituitary adenoma.
TREATMENT
Surgical removal of adenoma/ carcinoma. Total adrenalectomy can cause postoperative pituitary
tumor expansion and elevated ACTH and an enlarge sella turcica (Nelson syndrome). Additional
therapies consist of transphenoidal pituitary microsurgery; radiation and cyproheptadine may
block release of ACTH.
PROGNOSIS
Prognosis depends on etiology, method of treatment and severity of glucocorticoids excess.
Complications such as avascular necrosis of femoral head, hypertension, and posterior
capsular cataract can be seen.
In ACTH dependent CS (Cushings disease) surgery may often lead to Nelson syndrome.
Catch-up growth is restored after surgery, but poor prognosis is seen in-patient with adrenal
carcinoma.
Follow-upIn patient undergone bilateral adrenectomy steroid therapy has to be given life
long. Hydrocortisone 10-20 mg /m2/d three times day, fludrocortisone 0.05 mg-0.2 mg/d.
In patient recovering from iatrogenic CS early morning cortisol level is assessed to see the
adrenal function.
CONGENITAL HYPOTHYROIDISM (Figs. 4.4A and B)

Thyroid hormone has important roles in embryogenesis and fetal maturation. Deficiency of
iodine in the diet of mothers in particular areas causes maternal hypothyroxinemia leading to
neonatal hypothyroidism and defects in IQ. Thus, iodine deficiency is the cause of endemic
cretinism but other factors also aggravates it like, dietary goitrogen such as (thyocynates),
selenium deficiency and autoimmune hypothyroidism.
Deficiency of thyroid hormone is believed to have been present at or before birth. Prompt
diagnosis is essential as delay in treatment can lead to irreversible brain damage.
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Figs 4.4A and B: Congenital hypothyroidism. (A) 6 month old child, hypotonic with dry skin, low-pitched
hoarse cry, low body temperature, macroglossia and umbilical hernia. (B) X-ray wrist for bone age. No
carpel bone ossification center is visible
The incidence of congenital hypothyroidism is 1 in 3500 deliveries. An Indian population

study quote an incidence of 1 in 2800-4500 especially in Western states. Congenital
hypothyroidism is more common in Down syndrome (1:128).
ETIOLOGY
The commonest etiology is thyroid ectopia and dysplasia resulting from maldescent in early
gestation. Majority cases have thyroid dysgenesis which is sporadic in inheritance, hence
no chance of repeating in next pregnancy. There is no goiter in such cases. Female
preponderance is quoted for thyroid dysgenesis. Some time there is inborn error in thyroid
hormone synthesis, this autosomal recessive condition have 5 percent chance of recurrence
in subsequent siblings.
Penred syndrome comprising of sensorineural deafness and goiter has positive perchlorate
discharge. It is due to defect in a sulphate transport protein common to the thyroid gland
and the cochlea. It contributes to T4 synthetic defects leading to hypothyroidism.
CLINICAL FEATURES
Usually not presents at birth and appears gradually over about 6 weeks. In 5 percent cases
exhibit clinical features in first week of life. Early manifestation includes lethargy, inactivity,
hypotonia, periorbital edema, large fontanels, feeding difficulty, cutis marmuratus, respiratory
distress, thermal instability, poor or hoarse cry, and constipation. After one week of life prolong
physiological jaundice is an indication of congenital hypothyroidism. Classical clinical picture
develops only after six weeks. This includes typical faces narrow forehead, puffy eyelids, thick
dry and cold skin, coarse hair, large tongue, umbilical hernia, bradycardia, anemia, and wide
cranial sutures. Enlarge posterior fontanel > 1 cm.
KOCHER-DEBRE-SEMELAIGNE SYNDROME (Figs 4.5A to C)

Affected children may have athletic because of pseudohypertrophy, particularly of the calf
muscle. These muscles are hypotonic. Its pathogenesis is unknown, nonspecific histochemical
and ultrastructural changes seen on muscle biopsy returns to normal after treatment. Boys are
more prone to develop this syndrome.
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Figs 4.5A to C: (A) Hypothyroid boy with generalized pseudohypertrophy of muscles athletic appearance
(Kocher-Debre-Semelaigne syndrome). (B) Acquired hypothyroidism in 15-year-old girl later confirmed as
autoimmune thyroiditis. (C) Pubertal enlargement of thyroid gland
LABORATORY DIAGNOSIS
Estimation of T4 and TSH level decides the presence or absence congenital hypothyroidism. A
TSH level of above 20 IU and low T4 levels are indicative of congenital hypothyroidism. This
has to be repeated after one month. T4 comes to normal within one month but TSH takes 3
months or more to normalize. In later ages level has to be matched with the age related references.
X-ray of knee and ankle reveals delayed bony maturation. Ossification of calcaneum and
talus appears at 2628 weeks, distal femur at 3436 weeks, proximal tibia at 3436 weeks.
Hence, absence of these centers indicates intrauterine thyroid hormone deficiency. Some time
epiphyseal center may be fragmented called as epiphyseal dysgenesis.
TREATMENT
All hypothyroid infants with or without goiter should be treated promptly by thyroxine.
Dose schedule of thyroxine
0-6 month 10-15 microgm/kg/d
6-12 month 6-8 microgm/kg/d
1-5 year
5-6 microgram/kg/d
6-12 year
4 microgm/kg/d
T4 level should be maintained at 12-13 microgm/dl for first year and 10 microgm/dl thereafter.
TSH level should be <5 microgm/ml. Excessive thyroxine replacement can cause
craniosynostosis.
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FOLLOW-UP
American Thyroid Association and American Academy of Pediatrics recommendations for

clinical management and follow-up.
Immediate consultation of the neonate with pediatric endocrinologist.
Complete history and physical examination.
Serum (Free) T4 and TSH estimation and thyroid antibody test to be performed.
Bone age to be determined to assess the effect of hypothyroidism in the fetal life.
Accurate growth and growth velocity chart has to be maintained.
Thyroid scan (I-123- Tc-99) to establish the diagnosis of hypothyroidism.
L- thyroxine is the treatment of choice with goal of maintaining the serum T4 concentration
in the upper limit of the normal serum values. Following are the schedule for testing T4 and
TSH level during treatment. At 2 and 4 weeks after the initiation of therapy. Every 2 months
during the first six months of life. Every 4 months between 6 months and every 12 months
thereafter. Treatment in thyroid dysgenesis is life long with dose adjustment according to
childs body weight.
SCREENING FOR CONGENITAL HYPOTHYROIDISM

It is important screening program to pick-up cases of congenital hypothyroidism so that by
early intervention, mental retardation can be prevented. Most of the program uses T4 level
estimation by filter paper blood spot. Further TSH is estimated in all cases in which T4 levels
were found to be low.
PROGNOSIS
1. Thyroid hormone is vital for normal brain development, since almost no thyroxine (T4)
crosses the placental brain the fetus is dependent on its own pituitary-thyroid axis.
2. If treatment is delayed beyond 6 weeks of age permanent intellectual impairment may occur.
3. Neonatal screening for CH using filter paper blood-spot specimen analyzed for T4 or TSH
almost entirely prevents the complication.
MICROPENIS (Fig. 4.6)

It is defined as penis size below 2.5 standard deviation. The measurement of penis is always
being taken when there is clinical suspicion of small penile size. The measurement should be
stretched penis length. It is measured by gently stretching the penis and measuring the length
Fig. 4.6: Micropenis. A neonate with stretched penile

length of less than 2.5 SD
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from base up to tip of glans. The ratio of length and circumference of penis is also to be
measured. Normally, the newborn penis measures 3.5 +/- 0.7 cm and 1.1 +/- 0.2 cm in diameter.
Causes
It
usually occurs due to hormonal imbalance occurs after 14 weeks of gestation.

Hypogonadotropic hypogonadism.
Hypergonadotropic hypogonadism. (Primary testicular failure).
Idiopathic micropenis.
AMBIGUOUS GENITALIS (Fig. 4.7)

Ambiguous genitalia results from disorders of sex differentiation. Majority of the cases are
masculinization of 46 XX female and incomplete masculinization of the 46 XY female.
Others are due to gonadal differentiation/chromosomal disorders and syndrome associated
with incomplete genital development.
Figure 4.7 shows mild to moderate degree of virilization, with primarily clitoral hypertrophy
and significant fusion of labia in a neonate of 46 XX, congenital adrenal hypoplasia. Rugation
of labial folds also may be associated sometimes.
Fig. 4.7: Ambiguous genitalis
Physical findings provide information about the degree of virilization of the external genitalia
and the presence or absence of palpable gonads.
Clitoral enlargement, phallic length and mid-shaft diameter, assessment of degree of
labioscrotal folds, presence of gonads, and severity of hypospadias should be assessed in
these cases.
Radiological, lab investigations and karyotyping are needed for the diagnosis.
KLINEFELTERS SYNDROME (Figs 4.8 A to C)

DEFINITION
Klinefelters syndrome is a chromosomal disorder that affects only males. People with this
condition are born with at least one extra X chromosome. The syndrome was first identified
and described in 1942 by Harry Fitch Klinefelter, Jr., an American physician.
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INCIDENCE
Klinefelters syndrome affects 1 in 500 to 1,000 males. Variants of Klinefelters syndrome are
much rarer, occurring in 1 in 50,000 or fewer male births. Females are not affected by Klinefelters
syndrome.
INHERITANCE
This condition is not inherited, but usually occurs as a random event during the formation of
reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in
reproductive cells with an abnormal number of chromosomes.
Figs 4.8A to C: Klinefelters syndrome (A and B) Thirteen years presented with dyslexia, tall stature (Lower
segment more than the trunk), pectus excavatum, hypogonadism. Karyotyping revealed 47XXY. (C) Note the
absence of secondary sexual characteristic, no pubic hair, testicular size less than 2 cm
SYMPTOMS
The symptoms of Klinefelters syndrome are variable and not every affected person will have
all of the features of the condition. Males with Klinefelters syndrome appear normal at birth
and have normal male genitalia. From childhood, males with Klinefelters syndrome are taller
than average with long limbs. They have abnormal body proportion, i.e. long limbs and short
trunk. Taurodantism is seen on dental X-ray, an enlarge pulp space beneath the clinical crown
and affects basically the molar tooth.
At birth the testicles of Klinefelters boys are of normal size. When the testicles grow
quickly in boys with normal chromosomes at the age of 11-12 years, the testicles of Klinefelters
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boys stay very small, as a rule only 2 cm from pole to pole. Usually only few sperms are
developed in the testicles and men with Klinefelters syndrome are as a rule infertile.
Children with Klinefelters syndrome frequently have difficulty with language, including
learning to speak, read, and write. Approximately 50% of males with Klinefelters syndrome
are dyslexic.
Some patients with Klinefelters syndrome have difficulty with social skills and tend to be
more shy, anxious, or immature than their peers. They can also have poor judgment and do
not handle stressful situations well. As a result, they often do not feel comfortable in large
social gatherings.
The greater the number of X chromosomes present, the greater the disability; each extra X
chromosome lowers the childs IQ by about 15 points. Boys with several extra Xchromosomes have distinctive facial features, more severe retardation, deformities of bony
structures, and even more disordered development of male features.
DIAGNOSIS
Karyotyping to pickup 47XXY or its variant. Serum hormones in the form of Testosterone, LH,
FSH and Estradiol, later three are raised while testosterone level are reduced.
TREATMENT
Children with Klinefelters syndrome may benefit from speech therapy for speech problems or
other educational interventions for learning disabilities. Testosterone injections started around
the time of puberty may help to produce more normal development including more muscle
mass, hair growth and increased sex drive. Testosterone supplementation will not increase
testicular size, decrease breast growth or correct infertility. Psychiatric consultation may be
helpful when the boy reaches adolescence.
PROGNOSIS
While many men with Klinefelters syndrome go on to live normal lives, nearly 100% of these
men will be sterile (unable to produce a child).
COMPLICATIONS
Males with Klinefelters syndrome have an increased risk of several systemic conditions, including
epilepsy, osteoporosis, such autoimmune disorders as lupus and arthritis, diabetes, and breast
and germ cell tumors.
BIBLIOGRAPHY
1. Breast disorders in children and adolescents, Pediatr Clin North Am 1989;36:601-38.
2. Gynecomastia. Endoc Metab Clin N Am 1994;23:825-37.
3. Nelsons Text Book of Pediatrics, 17th edition, Chapter 536, 1815.
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Pediatric Surgery
ABSCESS (Fig. 5.1)

DEFINITION
An abscess is a collection of pus. Bacteria reaches site of infection by three routes.1 Direct
infection,2 Local extension from adjacent focus.3 Hematogenous or lymphatic spread. Pus
composed of dead leukocyte and bacteria. Polymorphs contain a proteolytic enzyme, which
causes liquefaction of tissues.
Fig. 5.1: An injection abscess over left buttock
SYMPTOMS
Malaise, fever and throbbing pain.
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SIGN
Five classical local sign of inflammation are seen
1. Heat CALOR, infected area feels warm. 2. Redness RUBOR.
3. Pain DOLOR.
4. Swelling TUMOUR
5. Functiolasia.
Initially the swelling is brawny and edematous. Later softening and fluctuation occurs. If
left untreated, it starts to point.
TREATMENT
The treatment of an abscess is incision and drainage.
Incision and drainage is always performed under suitable anesthesia.
Incision is given along Langers line or skin crease, by a scalpel blade. The incision should
be parallel to, and not across the direction of the underlying structures in case of deep
seated abscess.
Standard procedureThe incision is deepened to reach the abscess cavity and then a closed
hemostat is plunged into the cavity. A finger or a sinus forceps is introduced and all the loculi
are broken down. The cavity is then loosely filled (and not packed) with a gauge, which is
removed on the second or the third day.
Suitable antibiotics are mandatory for adequate length of time.
THRYROGLOSSAL DUCT CYST (Fig. 5.2)

DEFINITION
Thyroglossal duct cysts (TGDC) represent the most common congenital anomaly of the neck,
accounting for 2 to 4% of all neck masses.
EMBRYOLOGY
TGDC are caused by persistence of thyroglossal duct, during the descent of the thyroid from
the foramen cecum to its final position in the anterior neck. The cyst is connected to the
foramen cecum by single or multiple tracts, which pass through the hyoid bone. The duct lining
contains mucus-secreting glands and the cyst usually is filled with thick mucus. The thyroglossal
fistula results from the rupture of an infected TGDC.
SITE
The infrahyoid type is mostly found in the paramedian position, while the suprahyoid type is
positioned in the midline.
CLINICAL FEATURES
It is best visualized with the neck extended. It is soft, non-tender measuring 1 to 2 cm.
The cyst moves vertically up with tongue protrusion and swallowing.
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Fig. 5.2: Thyroglossal duct cyst. Cyst moves upwards on tongue protrusion
If the mass appears solid on clinical examination or ultrasonography, iodine uptake studies
should be carried out to rule out presence of ectopic thyroid tissue.
TREATMENT
The treatment of uninfected cyst or fistula is Sistrunks operation which comprises of complete
excision of the cyst and its tract upwards to the base of tongue, and resection of the central
portion of the hyoid bone.
DERMOID CYST (DC) (Fig. 5.3)

DEFINITION
DC is solitary, or occasionally multiple, hamartomatous tumor. It is covered by a thick dermis
like wall that contains multiple sebaceous glands and almost all skin adnexa. Hairs and large
amounts of fatty masses cover poorly to fully differentiated structures derived from the ectoderm.
Dermoid cysts may contain substances such as nails and dental, cartilage like, and bone like
structures.
Fig. 5.3: Dermoid cyst: A left external angular dermoid in a 4-year-old girl
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SYMPTOMS
Superficial cyst may not be seen at birth but a few months to years later when it begins to
fill up.
Symptoms are usually cosmetic disfigurement.
Position- DC is formed in intrauterine life when skin dermatomes fuses and is particularly
common in head and neck, at the line of fusion of ophthalmic and maxillary facial process.
Clinically the cyst is soft, fluctuant and non-transluminant. Unlike sebaceous cyst, it is not
attached to skin.
MANAGEMENT
With a frontonasal and a lateral orbital dermoid with intraocular symptoms a CAT scan should
be done to rule out intraorbital extension. The treatment of DC is surgical excision.
CYSTIC HYGROMA (CH) (Figs 5.4A to C)

The cystic hygroma (CH) develops from the remnant of jugular sacs during the development
of the lymphatic system.
DEFINITION
The term hygroma means moist tumor and is synonymous to lymphangioma. CH are
characterized by single or multiple cysts within the soft tissue, usually involving the neck.
HISTORY
Of all the swellings of the neck the CH is the earliest to appear. It may be present at birth.
Figs 5.4A to C: Cystic hygroma. (A) Cystic hygroma from the neck extending into axilla. (B) Another cystic
hygroma in the neck. (C) Bilateral cystic hygroma
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SYMPTOMS
Approximately 50 to 75% of all lymphangiomas occur in the neck. They can occur in the
submental triangle, with extension into the floor of mouth. They may acutely enlarge following
infectious processes (e.g., upper respiratory tract infections). The CH may cause respiratory
and swallowing difficulties if present in the submental or the mediastinal areas.
EXAMINATION
These masses tend to manifest as slow growing, painless masses with a doughy consistency.
They are seen at base of neck in the posterior triangle but can be very big to occupy whole of
the neck. Lesions are fluctuant and brilliantly transluminant.
DIAGNOSIS
Radiologic diagnosis is often made using ultrasound imaging. CT scanning reveals a thin walled
multicystic lesion with well-defined boundaries. MRI offers better soft tissue delineation than
CT scanning.
OBSTETRIC MANAGEMENT
Determination of fetal karyotype is recommended in all cases of suspected fetal cystic hygromas.
In isolated CH no modification to standard obstetrical management is required. LSCS is required
for large CH.
MANAGEMENT
The management of choice is surgical excision. Other techniques (e.g., cryotherapy,
sclerotherapy) have met with only marginal success. Even with surgical excision, recurrence
rates for CH are high, reported at 6 to 50%.
PREAURICULAR SINUS (Figs 5.5A and B)

Preauricular sinuses are located near the front of the ear and mark the entrance to a sinus tract
that may travel under the skin near the ear cartilage. These tracts are lined with squamous
epithelium and may sequester to produce epithelial-lined subcutaneous cysts or may become
infected, leading to cellulitis or abscess.
EMBRYOLOGY
The auricle forms during the sixth week of gestation. The first and second branchial arches
give rise to a series of 6 mesenchymal proliferations known as the hillocks of His, which fuse
to form the definitive auricle. Defective or incomplete hillock fusion during auricular development
is postulated as the source of the preauricular sinus. Another theory suggests that localized
folding of ectoderm during auricular development is the cause of preauricular sinus formation.
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Figs 5.5A and B: Preauricular sinus (A) Bilateral preauricular sinus in the father.
(B) Preauricular sinus in his 4-year-old son
ANATOMY
They are frequently noted on routine physical examination as small dells adjacent to the external
ear, usually at the anterior margin of the ascending limb of the helix. However, they have been
reported to occur along the lateral surface of the helicine crus and the superior posterior margin
of the helix, the tragus, or the lobule. The preauricular sinuses are usually found lateral, superior,
and posterior to the facial nerve and the parotid gland. In almost all cases, the duct connects to
the perichondrium of the auricular cartilage. They can extend into the parotid gland.
PRESENTATION
Most people with this malformation are asymptomatic unless infected.
MANAGEMENT
The asymptomatic sinus does not require any treatment. Once a patient acquires infection of
the sinus, he or she must receive systemic antibiotics. If an abscess is present, it must be
incised and drained. Once infection occurs, the likelihood of recurrent acute exacerbations is
high, and the sinus tract should be surgically removed.
The recurrence rate after surgery is 13 to 42 percent. Several factors contribute to recurrence
after surgery such as previous attempt at surgical removal, incomplete removal of the sinus
tract or the auricular cartilage at the base of the sinus, active infection at the time of surgery or
drainage of an abscess prior to surgery. Most recurrences occur during the early postoperative
period, within 1 month of the procedure.
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CLEFT LIP (CL) AND CLEFT PALATE (CP) (Fig. 5.6)

EMBRYOLOGY
The lip and primary palate begin to develop at four to five weeks gestational age. The two
medial nasal swellings and the maxillary swellings fuse to form the upper lip. The nasal swellings
merge at deeper levels also and form the intermaxillary segment, which becomes the triangular
primary palate, so cleft lip is associated with cleft of the primary palate.
The secondary palate develops at approximately nine weeks of gestational age. It is formed
by medial growth of the palatal shelves of the maxilla, which normally fuse together and with
the nasal septum as the tongue is pushed down during development. So, the pathogenesis of
secondary cleft palate is failure of this fusion to occur.
CLASSIFICATION / ANATOMY
CL are incomplete or complete. In incomplete CL, only a portion of the vertical height of the lip
is involved while a complete CL involves the entire height of the lip. CL are unilateral or bilateral.
The primary palate is anterior to the incisive foramen, and the secondary palate is posterior
to the foramen. CP are unilateral if on one side the palatal process of the maxilla is fused with
the nasal septum. A bilateral CP is not attached to the nasal septum, and the septum is visible
through the cleft. A complete CP involves the primary and secondary palate; an incomplete CP
involves the secondary palate only.
Submucous Cleft Palate involves a triad of bifid or notched uvula, notching of the hard
palate, and muscular diastasis of the soft palate. The overlying mucosa is intact but due to the
muscular diastasis, the function is impaired. This is treated similar to the classical CP repair.
INCIDENCE
Cleft lip and palate are present in one of 1000 live births. The incidence of cleft palate alone is
one in 500 live births. Considering the cleft deformities of all races grouped together, 50 percent
are cleft lip and palate, 30 to 35 percent are palate only, and 15 to 20 percent are cleft lip only.
Approximately 10 percent of patients with a cleft deformity will have other anomalies at birth.
The risk is directly related to the frequency and severity of the clefts.
Fig. 5.6: Cleft lip and palate
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COMPLICATIONS
Patients with cleft palate may have abnormal midface development, velopharyngeal incompetence,
speech defects, and abnormal Eustachian tube function.
MANAGEMENT AND TIMING
In view of these complications, the reconstructive surgeon is faced with timing the cleft repair
so that hearing and speech are optimized, but effects on midface growth are minimized. Cleft
lip repair is usually planned at approximately ten weeks of age, if the baby weighs ten pounds,
and the hemoglobin is ten grams. Cleft palate repair is usually scheduled at approximately six to
12 months of age.
In conclusion, cleft lip and palate disorders are complex disorders requiring evaluation and
care by a multidisciplinary team including a pediatrician, reconstructive surgeon, otolaryngologist,
speech therapist, audiologist, and a prosthodontist.
INGUINAL HERNIA (Figs 5.7A and B)

DEFINITION
An congenital inguinal hernia is the protrusion of abdominal contents through a patent processus
vaginalis into the inguinoscrotal region.
ANATOMY/EMBRYOLOGY/ PATHOLOGY
As the testis descends into the scrotum, it takes along with it an extension of the peritoneum,
the processus vaginalis which surrounds the testis to form the tunica vaginalis and the remaining
portion obliterates. If this extension is large enough to admit bowel, it is called a hernia while if
it is narrow and admits fluid only, it is called a congenital hydrocele.
A hernia never spontaneously resolves and requires surgery.
One third of inguinal hernia present in the first 6 month of life. Incidence in a term infant is
0.5 to 1 percent. Premature infants are at an increased risk for inguinal hernia, with the
incidence ranging from 7 to 30 percent. Also the associated risk of incarceration in this
population is more than 60 percent.
Figs 5.7A and B: Inguinal Hernia. (A) Complete right inguinal hernia. (B) Incomplete right inguinal hernia
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The most dreaded complication of hernia is irreducibility, strangulation and obstruction.

This carries a high mortality and recurrence rate.
DIAGNOSIS
An uncomplicated hernia presents with a smooth soft mass in the inguinal area.
Mass may extend into the scrotum and increases in size with the increase in the intraabdominal pressure (crying or straining)
The spermatic cord may feel thickened. A rustle or silk sign may be there on palpation.
An incarcerated hernia presents with irreducibility and tenderness with or without features
of intestinal obstruction.
Differential diagnosis includes hydrocele, encysted hydrocele of cord, enlarged inguinal
lymph nodes and undescended or retractile testis.
TREATMENT
The treatment of inguinal hernia is herniotomy. This should be done as early as possible. If the
baby is nursery for some other indication that precludes immediate surgery, herniotomy should
be done before the baby is discharged. Even if the hernia is not demonstrable in the clinic, a
history of an inguinal swelling given by the parents is enough to warrant inguinal exploration.
UMBILICAL HERNIA (Fig. 5.8)

Failure of the umbilical ring to close completely results in an umbilical hernia
Embryology: The umbilical ring is at the center of four somatic folds comprising the abdominal
wall. Final closure and contraction of umbilical ring occurs after the umbilical cord is ligated
and the umbilical vessels thrombose.
Incidence: 18 percent in white infant and 42 percent in black infants. Incidence increases
with prematurity and low birth weight.
Male female ratio is 2:1.
Fig. 5.8: Umbilical hernia
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Presentation: It is often noted in neonatal period as a protrusion of the umbilicus during

straining and crying. The ultimate shape it takes depends upon the extent of pressure
transmitted. The facial defect is usually less than 2 cm. Rarely, an umbilical hernia can get
incarcerated.
TREATMENT
Most of the cases show spontaneous closure in the first few month of life up to 3 years.
Spontaneous closure is less likely after 3 years of age and for hernia greater than 1.5 cm in
diameter.
Attempts to hasten the cure by adhesive strapping placed over the abdomen is not advocated.
Surgery is required when umbilical ring diameter measures more than 1.5 cms in diameter
or for hernia that have not closed spontaneously by 4 to 5 years of age.
LUMBAR HERNIA (Fig. 5.9)

It is one of the rare types of abdominal wall hernia.
The herniation is through inferior triangle of Petit. It is bounded below by the crest of ileum,
laterally by external oblique and medially by latissimus dorsi.
It rarely gains entry into superior triangle of Petit which is bounded above by twelfth rib,
medially by sacrospinalis and laterally by posterior border of external oblique.
Fig. 5.9: Bilateral lumbar hernia
TREATMENT
Lumbar hernias increase in size and should be repaired when found. Nearby fascia is mobilized
and the hernial defect obliterated by precise fascia-to-fascia closure. The recurrence rate is
low.
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OMPHALOCELE (EXOMPHALOS)[OC] (Figs 5.10A and B)

PATHOLOGY
Omphaloceles are characterized by a central, epigastric, or hypogastric defect in the anterior
abdominal wall. A sac composed of peritoneum, Whartons jelly and the amnion covers the
defect. The umbilical cord is inserted onto the wall of the sac. The sac may rupture in utero,
during delivery or after birth. The OC may be major or minor. If the defect is more than 4 cm
in diameter or any viscera apart from the bowel (usually the liver) is herniating, the OC is
termed major. Larger OCs may have a hypoplastic peritoneal cavity, making the management
difficult. The minor OCs (congenital hernia of the cord) are simpler to treat. In both the types,
the abdominal musculature is intact and the recti form the lateral border of the defect.
B
Figs 5.10A and B: (A) Exomphalos-minor (B) Exomphalos-major
INCIDENCE
In the west, combined incidence of omphalocele and gastroschisis is 1 in 2000 births.
EMBRYOLOGY
The embryogenesis of OC is controversial. It is thought to result due either to the failure of
intestines to return to the abdominal cavity or failure of body wall morphogenesis. This is
usually not regarded as a hereditary condition.
ASSOCIATED PROBLEMS
OC are commonly associated with prematurity and low birth weight. 35 to 80 percent OCs are
associated with major congenital anomalies. The anomalies are mostly extraintestinal:
Cardiovascular: Tetralogy of Fallot, atrial septal defect
Syndromes: Trisomies (13 to 15, 18, 21); Beckwith-Wiedeman syndrome (BWS) (OC,
macroglossia and gigantism); Upper midline syndrome or Cantrells pentalogy (defects in
anterior abdominal wall, sternum, diaphragm, pericardium and cardiac anomaly); Lower
midline syndromes: bladder or cloacal exstrophy.
Neural tube and musculoskeletal defects
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PRENATAL MANAGEMENT
Diagnosis: 1.Ultrasonography 2. Elevated maternal serum alfa protein 3. Amniocentesis or
Chorionic villi biopsy to look for chromosomal abnormalities.
Mode of Delivery
Routine cesarean delivery does not improve the outcome of babies with minor OCs. However,
for large OCs and the ones in which liver protrudes out, cesarian section is preferred to avoid
injury to the sac or the liver.
POSTNATAL MANAGEMENT
Usually, neonates with intact OCs are in no distress, unless associated pulmonary hypoplasia is
present. Examine the baby carefully to detect any associated problems. Give nothing by mouth
pending operative repair. Administer maintenance intravenous fluids, and cover the OC sac with
sterile saline-soaked gauze and plastic wrap, using sterile technique. As an alternative or during
transfer, the babys lower torso may be placed in sterile plastic bag. The OC should be supported
by dressings to avoid excessive traction to the mesentery. Prophylactic antibiotics should be
given preoperatively. Blood sugar should be done to look for BWS.
Closure of a small or moderate size OC usually is accomplished without difficulty. Closure
of a giant OC that contains the liver can be very challenging and may require multistage
procedure. For very large OCs or the ones in which surgery cannot be undertaken due to
co-morbid conditions, application of 0.5 percent mercurochrome in 65 percent alcohol may
be done to promote epithelialization. A ruptured OC is treated like gastroschisis.
PROGNOSIS
Prognosis is dependent upon the severity of the associated problems. Even giant OCs can be
closed, although multiple procedures may be necessary. The limiting factor for many of these
babies, however, is their diminutive thoracic cavities and associated pulmonary hypoplasia and
resultant chronic respiratory failure.
GASTROSCHISIS (GC) (Figs 5.11, 5.12A and B)

PATHOLOGY
GC is characterized by a defect that is fairly uniform in size and location; a 5-cm vertical
opening to the right of the umbilical cord. The small bowel and the stomach are usually herniating
through the defect that is very small when compared to the size of the herniated viscera. This
causes vascular compromise of the viscera. Also the exposure to the amniotic fluid is supposed
to result in deposition of fibrin on the bowel. The edema and the fibrin deposit result in
foreshortening of the bowel. The vascular compromise increases the incidence of bowel atresia
in these babies.
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Fig. 5.11: Gastroschisis, note the insertion of the umbilical cord and the absence of sac
B
Figs 5.12A and B: Gastroschisis (A) Intraoperative photograph showing intestines
hung with a urine collecting bag. (B) Postoperative photograph
EMBRYOLOGY
The embryogenesis of GC is unclear. It is thought to result due abnormal involution of right
umbilical vein resulting in a mesenchymal defect. Like omphaloceles, GC is also not regarded as
a hereditary condition.
ASSOCIATED PROBLEMS
GC is commonly associated with prematurity and low birth weight. Unlike omphaloceles, the
major associated anomalies with GC are intestinal. GC is associated with bowel atresia,
malrotation, meconium peritonitis and short gut syndrome. There is associated bowel dysfunction
that may last from a few weeks to months.
PRENATAL MANAGEMENT
Diagnosis
1. Ultrasonography, 2. Elevated maternal serum alfa protein.
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Mode of Delivery
When gastroschisis is diagnosed, serial USG examinations are done to detect signs of intestinal
injury (decreased peristalsis or distension, increased echogenicity). Pregnancy should be
continued to term if there is no evidence of intestinal injury and baby should be allowed to
deliver normally. Routine cesarean delivery has no impact on the outcome of infants with GC.
However, if there is evidence of bowel injury, the benefits of cesarean delivery must be weighed
against the risks associated with prematurity. Delivery should be done at a center where the
required nursery and neonatal surgical care are available.
Fluid, electrolyte, and heat losses must be minimized and corrected. An intravenous fluid bolus
(20 mL/kg RL) should be administered, followed by 5 percent dextrose with NS at 2-3 times
the babys maintenance fluid rate. The baby should be placed under a radiant heater, and the
exposed intestines should be covered with plastic wrap and supported to avoid excessive traction
on the mesentery. As an alternative, the babys lower torso may be placed in a sterile bag.
Intravenous antibiotics and vitamin K should be administered and the baby taken for emergency
surgery. A direct abdominal closure is seldom possible as tight closure of the abdominal cavity
limits excursion of the diaphragm and impedes venous return to the heart. A two stage surgery
is done wherein the first stage the bowel is put into a sterile bag attached to the anterior
abdominal wall and the bag is hanged. As the edema reduces, the bowel is gradually pushed into
the abdomen over a period of 5-7 days after which the abdominal closure is undertaken. The
baby may require ventilatory support and parenteral nutrition. Associated bowel atresia or
perforation are more difficult to treat.
PROGNOSIS
Prognosis is dependent mainly upon severity of associated problems, including prematurity,
intestinal atresia, short gut, and intestinal inflammatory dysfunction.
ACHALASIA CARDIA (Fig. 5.13)

Achalasia cardia is a pathological condition characterized by failure of relaxation of distal esophagus
and esophagogastric junction. Usually the patients affected are middle aged females but it can
occasionally be seen in children. The cause of achalasia in children is unknown. The entity is
also reported to occur in families.
PRESENTATION AND DIFFERENTIAL DIAGNOSIS
The child commonly presents with regurgitation, vomiting, recurrent chest infection and rarely
with respiratory distress and near sudden infant death syndrome. The clinical presentation of
achalasia cardia mimics other causes of esophageal obstruction, such as congenital esophageal
stenosis, pyloric stenosis and gastroesophageal reflux. One feature differentiating esophageal
obstruction from a gastric outlet obstruction or gastroesophageal reflux is the absence of curdling
of milk in the former.
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Fig. 5.13: Achalasia cardia (A) barium swallow AP view. (B) Lateral view, X-Ray
depicting narrowing of the distal esophagus Photographs courtsey: Dr. Prof. Budhwani (Bhopal)
DIAGNOSIS
Contrast esophagogram - shows dilated esophagus with smooth narrowing of the distal
esophagus and esophagogastric junction also described as bird-beak sign.
Manometry: There is a failure of relaxation of the lower esophagogastric junction with
swallowing. However, it may be difficult to differentiate achalasia from congenital esophageal
stenosis, since both may have similar symptoms and radiological appearance. This issue is
solved by doing an esophagoscopy before the definitive procedure, when the esophagogastric
junction admits the scope easily if there is achalasia as this is a functional obstruction. In
stenosis or stricture, the scope cannot be negotiated easily.
TREATMENT
A laparoscopic or open modified Hellers esophagocardiomyotomy with or without an antireflux
procedure is the standard management of achalasia cardia. Other modalities of treatment
described with varying success rate are pharmacological and mechanical. Pharmacotherapy
includes the use of smooth muscle relaxants like isosorbide dinitrate or calcium channel blockers
like nifedipine or local injection of botulin toxin which has been tried with some success in
adults. Mechanical therapy includes forceful pneumatic dilatation of the esophagus; however,
symptomatic improvement is mostly seen in older children. Recurrence of symptoms within
six months and esophageal perforation are the main concerns of the procedure.
INFANTILE HYPERTROPHIC PYLORIC STENOSIS (Figs 5.14A to C)

Infantile hypertrophic pyloric stenosis (IHPS) is the most common condition requiring surgery
in the first few months of life. IHPS occurs secondary to hypertrophy and hyperplasia of the
muscular layers of the pylorus, causing a functional gastric outlet obstruction.
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Figs 5.14A to C: Infantile Hypertrophic pyloric stenosis. (A) Note classical visible peristalsis.
(B) The pyloric tumor (C) Ramstedts pyloromyotomy
CAUSE
The cause of IHPS is unclear. Proposed theories include, among others, abnormal circular
muscle innervation, immature ganglion cells, decreased nitric-oxide stimulation of muscle fibers,
and abnormal levels of gastrin.
PATHOPHYSIOLOGY
Due to protracted loss of hydrogen and sodium ion due to the vomiting, there ensues a
hyponatremic, hypokalemic, hypochloremic, metabolic alkalosis. It is imperative to correct
these metabolic problems before operating the baby. Hence, IHPS, despite being an obstruction,
is a medical emergency.
DIAGNOSIS
IHPS most commonly is seen in infants aged 3-6 weeks. Premature infants tend to present at 36 weeks from birth and not at 3 to 6 weeks from the due date. IHPS is rarely seen in children
older than 6 months. Male-to-female ratio is 4 to 6:1. IHPS accounts for 30 percent of patients
presenting with non-bilious vomiting of curdled milk that may be projectile.
On examination, the baby is dehydrated. There usually is seen a gastric peristalsis, which
may be a normal finding in a thin baby. The most important and diagnostic feature is the
palpation of the olive shaped pyloric mass in the right upper quadrant at the lateral edge of
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the rectus abdominis muscle. This is best palpated after the infant has vomited and when calm,
or when the gastric contents have been removed via nasogastric tube. Once this is felt, no
imaging is required and one may proceed to surgery when appropriate.
But with the reducing skill and patience to examine, more and more surgeons are shifting to
ultrasonographic examination for diagnosis. With a 5 or 7.5 MHz transducer and in reliable
hands, USG has a sensitivity and specificity of 100%. Sonographic signs of IHPS are:
Muscle thickness (serosa to mucosa) greater than 3 mm
Pyloric channel length greater than 17 mm
Pyloric thickness (serosa to serosa) of 15 mm or greater
Barium meal and other imaging modalities have very little to contribute.
At the time of inserting intravenous line, samples should be drawn for serum electrolytes,
complete blood count and serum BUN.
DIFFERENTIAL DIAGNOSIS
Includes Gastro-esophageal reflux, urinary tract infection, adrenal hyperplasia, duodenal stenosis,
achalasia cardia, pyloric antral web and gastroenteritis.
MANAGEMENT
The initial management aims to correct the dehydration and the fluid and electrolyte imbalance.
The initial fluid should be dextrose 5% with normal saline (DNS) or dextrose + 0.45% saline
(equal volume of NS and 10% dextrose). Once a urine output is established, KCl is added at 3
meq/kg/day. The electrolytes are repeated periodically. Once the electrolytes normalize, the
baby is taken for Ramstedts pyloromyotomy. Post-operatively the baby is started on glucose
feeds after 3-4 hours and later changed to milk. The baby can be discharged 48-72 hours after
the surgery.
PROGNOSIS
Surgery is curative with minimal mortality.
DUODENAL ATRESIA (DA) AND STENOSIS (DS) (Fig. 5.15)

PATHOLOGY
Duodenal obstruction may be complete or incomplete. Duodenal atresia is an example of complete
intrinsic obstruction. Duodenal stenosis is an example of an incomplete intrinsic abnormality;
however, duodenal extrinsic stenosis can occur in association with malrotation, annular pancreas
or a preduodenal portal vein. The intestine on either side of the defect may be in apposition (type
1), separated by a fibrous cord (type 2), or gap (type 3). In 85 percent cases, the obstruction
occurs distal to the ampulla of vater while in 15 percent cases it is proximal to it.
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Fig. 5.15: Plain X-ray and barium contrast study. Note the smooth
end of the duodenum, differentiating it from malrotation
FREQUENCY
The incidence of DA is 1 case per 6000-10000 births.
EMBRYOLOGY
Duodenal maldevelopment occurs secondary to either inadequate endodermal proliferation (gut
elongation outpaces proliferation) or failure of the epithelial solid cord to recanalize (failure of
vacuolization).
ASSOCIATED PROBLEMS
Downs syndrome occurs in approximately 1/3rd patients followed by malrotation and congenital
heart disease. Esophageal atresia and imperforate anus (Triple atresia) may be associated.
PRENATAL MANAGEMENT
Polyhydramnios is present in about 50 percent cases of DA. Sonographic features of high
intestinal obstruction (i.e., duodenal obstruction with a dilated stomach [double bubble sign])
become apparent in the third trimester. Prenatal diagnosis of duodenal atresia should lead to a
search for other associated anomalies and amniocentesis for karyotype analysis. However, in
the presence of polyhydramnios, normal findings on ultrasonography of the fetus do not exclude
duodenal atresia.
POSTNATAL DIAGNOSIS
Normal newborn infants have gastric aspirates that measure less than 5 mL. An infant with a
gastric aspirate that measures greater than 30 mL in the delivery room or newborn nursery
should be evaluated for duodenal atresia and other causes of upper intestinal obstruction.
Associated conditions should be looked for.
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Symptoms of upper intestinal obstruction commence within the first 24 hours after birth.
However, patients may present hours or days after delivery. Sustained vomiting (bilious or non
bilious) is the most common symptom, occurring in approximately 85 percent of cases. Nonbilious vomiting occurs when atresia is present above the papilla of Vater. Normal meconium
may be observed in the early stages. An infant with duodenal atresia typically has a scaphoid
abdomen. One sometimes may note epigastric fullness from dilation of the stomach and proximal
duodenum.
Differentials are malrotation and volvulus, intestinal atresia or stenosis in other locations,
and extrinsic duodenal obstruction or congenital bands.
RADIOLOGY
A plain erect X-ray of abdomen shows the double-bubble sign caused by the distended stomach
and duodenum (Fig. 5.15). In complete obstruction, the rest of the abdomen is gasless. In
partial obstruction, there may be some gas in the rest of the abdomen.
It is extremely important to do an upper GI barium study to look for the cause of obstruction.
In DA and DS, the duodenum is dilated but has a smooth contour (Fig. 5.16). In small bowel
volvulus, the barium ends in a corkscrew. If a volvulus is suspected, the baby requires rapid
resuscitation and urgent laparotomy.
MANAGEMENT
Correction of hypokalemic/hypochloremic metabolic alkalosis is done. The baby is also started
on intravenous antibiotics and vitamin K. After adequate resuscitation, a diamond shaped duodenoduodenostomy is done.
PROGNOSIS
Prognosis is dependent upon the severity of the associated problems. Result of anastomosis is
good.
DISORDERS OF ROTATION AND FIXATION

OF INTESTINE (DRF) (Fig. 5.16)
NORMAL ROTATION AND FIXATION
At one month of fetal life (5-mm stage) the intestinal tract represents a single tube with the
superior mesenteric artery (SMA) forming a bulge in the center of the tube as it attaches to it.
The growth in the length of the intestine exceeds the growth of the coelomic cavity as a result
of which the bowel grows out of the coelomic cavity. The bowel then returns to the coelom
completely by the 10th week of gestation. During this process the bowel also undergoes a 270
rotation around the SMA axis and finally gets fixed in the abdomen. The final positions of the
duodeno-jejunal junction (DJJ) and the ileo-cecal junction (ICJ) result in a broad based mesentery.
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Fig 5.16: Malrotation: Note right sided jejunal loops and coiling at the
end of dilated duodenum. This baby also had a paraduodenal hernia
PATHOLOGY
The DRF can be classified into 3 types according to the stage at which the arrest of the
development has taken place. Type I or non-rotation occurs when no rotation of the bowel
takes place. Type II or incomplete rotation takes place when the rotation is arrested at some
stage. Type III or Incomplete fixation takes place when the bowel has completed its descent but
the fixation of mesentery and retroperitonealisation of parts of bowel have not occurred. The
last category results in the formation of internal hernias and predispose to cecal volvulus. In
types I and II, the basic problems are two: 1. Formation of bands (Ladds bands) between
cecum and abdominal wall lateral to the duodenum. These bands cause obstruction to the
second part of the duodenum (D2) and 2. Narrowing of the base of mesentery resulting due to
the ileocecal junction lying close to the duodenojejunal junction. This predisposes to small
bowel volvulus.
FREQUENCY
Intestinal malrotation occurs at a rate of 1 in 500 live births. Most infants with gastroschisis,
omphalocele, or congenital diaphragmatic hernia present with intestinal malrotation. Approximately
50 percent of patients with duodenal atresia and 33 percent of patients with jejunoileal atresia
have a malrotation as well.
PRESENTATION
History of presenting illness varies according to acute or chronic presentation as well as according
to type of rotational defect.
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Acute Midgut Volvulus

Most patients present in infancy with sudden onset of bilious emesis. Initially the abdomen is
scaphoid. Once intestinal ischemia ensues, there is tenderness in the abdomen along with
increasing distension and bleeding per rectum.
Chronic Midgut Volvulus
Chronic midgut volvulus is due to intermittent or partial twisting that results in lymphatic and
venous obstruction. The main presenting features are recurrent abdominal pain and malabsorption
syndrome.
Acute Duodenal Obstruction
This anomaly usually is recognized in infants and is due to compression or kinking of the
duodenum by peritoneal bands (Ladd bands). Patients present with forceful bilious or nonbilious
vomiting.
Chronic Duodenal Obstruction
The typical age at diagnosis ranges from infancy to preschool. The most common symptom is
bilious vomiting. Patients may also have failure to thrive and intermittent abdominal colic.
Intestinal Herniation
Patients have recurrent abdominal pain with vomiting as well as constipation at times. They are
often diagnosed with psychosocial problems. Bilious vomiting, with or without distension implies
intestinal obstruction unless proven otherwise.
RADIOLOGICAL DIAGNOSIS OF DRF
A UGI series is the preferred diagnostic test for malrotation with midgut volvulus and must be
performed unless surgical delay will compromise outcome. To conclusively rule out DRF, the
DJJ must be located on to the left of the spine at a level midway between greater and lesser
curvature of the stomach. Features diagnostic of DRF are duodenal dilatation, and right-sided
DJJ and jejunal loops if the patient is not in acute obstruction at the time of presentation. In
patients with acute obstruction, a Z-shaped DJ loop is seen with obstruction caused by peritoneal
bands and a cork screw appearance of the duodenum and the proximal jejunum is seen with
a midgut volvulus.
Doppler study reveals a whirlpool sign in a midgut volvulus due to flow pattern of the
superior mesenteric vein and mesentery around the SMA.
MANAGEMENT
It is extremely important that a baby with bilious vomiting irrespective of abdominal distension
be urgently evaluated for a high bowel obstruction. A rapid resuscitation and a UGI study are
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warranted. If this reveals a malrotation or a volvulus, urgent laparotomy is required to prevent

or arrest bowel ischemia. For DFR, the surgery involves derotation of volvulus, division of
Ladds band, broadening of mesentery and appendicectomy. The latter is done as the final
position of the ICJ after surgery is in the left abdomen, which may lead to diagnostic problem
in case the patient develops appendicitis later in life. Also one should look for and exclude
intrinsic duodenal obstruction.
It is not uncommon to find alteration in the color of the bowel, which does not improve on
derotation and 100 percent oxygenation and involves a large area of bowel. In this situation the
abdomen is closed after derotation and re-explored 12-24 hours later. At this stage recovery of
the questionable bowel or demarcation of the areas of frankly necrotic bowel is usually obvious.
There is a possibility of development of short-bowel syndrome if the area required to be resected
is large.
PROGNOSIS
The prognosis of these patients after surgery is usually good. Some patients may have prolonged
duodenal dysmotility for which additional procedures such as duodenoplasty may be required.
The most difficult problem to handle is a short-bowel syndrome.
PNEUMOPERITONEUM IN NEWBORN41,42,43 (Figs 5.17 A and B)

The term pneumoperitoneum refers to air within the peritoneal cavity. The most common cause
is a perforated abdominal viscus. The presence of a pneumoperitoneum does not, however,
always imply a perforation because some other (mostly non-surgical) conditions are associated
with pneumoperitoneum. Likewise not every bowel perforation results in a pneumoperitoneum
with some perforations sealing over and allowing little gas to escape.
CAUSES
1. Ruptured hollow viscus: Necrotizing enterocolitis and spontaneous perforation of the stomach
in preterm newborns are the first and second most common causes of organ rupture in the
newborn and infants, respectively. Idiopathic bowel perforation may also affect other parts
of the GI tract. These perforations are usually single, small antimesenteric with minimal
bowel necrosis. A suggested etiological factor is a localized vascular accident.
2. Other causes include perforation secondary to obstructions (atresia, Imperforate anus or
Hirschsprungs disease).
3. Infection of the peritoneal cavity with gas-forming organisms
4. Iatrogenic: Pneumoperitoneum occurs in about 1% of mechanically ventilated children in
intensive care units. It arises from ruptured pulmonic blebs (minute rupture in alveoli subjected
to the stress of mechanical ventilation) dissecting retroperitoneally into the abdomen rather
than outwardly into the pleura. This is known as the Macklin effect. Some suggestions
pointing toward this etiology are the presence of interstitial emphysema, retrocardiac
pneumomediastinum, pneumothorax, dissection of air into the soft tissues of the neck, the
absence of fluid or meconium in the peritoneum and the presence of air in the stomach in a
child with severe pulmonary disease on mechanical ventilation.
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Figs 5.17A and B: Pneumoperitoneum (A) 3 days pretern neonate presented with refusal to feed
and abdominal distension. (B) X-ray Chest and abdoment in erect position reveals gas under
diaphragm depicting hollow viscous perforation
Pneumoperitoneum can also result from instrumentation, e.g. a thermometer perforating

the rectal wall.
CLINICAL FEATURES
The clinical features depend on the cause of the pneumoperitoneum. Benign causes of
pneumoperitoneum are unaccompanied by signs of peritonitis. Perforated hollow abdominal
viscus causes peritonitis, which may be diffuse (commonly) or localized. The severity of
peritonitis also depends on the type of GI contents released into the peritoneal cavity.
RADIOLOGICAL FEATURES
At least 2 radiographs should be obtained, including a supine abdominal radiograph and either an
erect chest image and or a left lateral decubitus image. A common sign is a collection of gas in
the right upper quadrant adjacent to the liver, lying mainly in the subhepatic space and the
hepatorenal fossa, which is visible as an oval or triangular gas shadow not obviously in continuity
with the rest of the bowel. Clear visualization of the outer as well as the inner wall of a bowel
loopRiglers signis a valuable indication of a pneumoperitoneum.
The falciform ligament in particular, and occasionally the umbilical ligaments and urachus,
may be visualized by free gas when it lies on either side. Relatively large amounts of gas may
accumulate as with gastric or colonic perforation and show up beneath the diaphragm (cupola
sign) or on the upper part of the abdomen in a decubitus lateral film.
Management: depends on the cause of the pneumoperitoneum and the general condition of
the baby. For babies on ventilation, the management is directed towards the cause of the
pneumoperitoneum. When pneumoperitoneum results due to necrotizing enterocolitis, peritoneal
drainage is recommended. For other gut perforations, depending upon the general condition
laparotomy is performed.
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PROGNOSIS
This is again dependant upon the etiology and the general condition of the baby.
INTUSSUSCEPTION (Figs 5.18A to C)

DEFINITION
Telescoping of a portion of intestine into itself is called intussusception and is the commonest
cause of intestinal obstruction in infants. Usually the proximal intestine telescopes into the distal
and in the process the mesentery is also dragged along with it.
Usually occurs in the age of 3 months to 1 year. These are often well-nourished healthy
children.
CLINICAL FEATURES
Clinically there is a triad of colicky abdominal pain, a sausage like mass, and red currant jelly
stool.
DIAGNOSIS
Barium enema- confirms the diagnosis, which will show either a filling defect or a spring
coil appearance. This procedure helps in both diagnosis and therapy. Successful reduction
occurs in 50 to 75 percent in early cases.
TREATMENT
The non-operative treatment is hydrostatic reduction done either by barium enema
(fluoroscopy-guided) or normal saline (ultrasound guided). It should be attempted only on
cases less than 24 hours old that do not have significant abdominal distension. Rapid
rehydration and intravenous antibiotic administration should be done beforehand. The
procedure should be done using a steady hydrostatic pressure under the supervision of a
pediatric surgeon, keeping the theatre ready for a laparotomy, should the reduction fail.
Figs 5.18A to C: (A and B) Red currant jelly stool (C) Barium enema showing spring coil appearance
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The operative treatment is either reduction or resection and anastomosis depending on

viability of the gut.
PROGNOSIS
There is 5-10 percent chance of recurrence after barium reduction. This occurs within first 48
hours after reduction. The rate of recurrence after surgical reduction is about 1 percent to 5
percent.
HIRSCHSPRUNGS DISEASE (HD) (Figs 5.19A and B)

PATHOLOGY
Hirschsprungs disease is characterized by a congenital absence of ganglion cells in the distal
colon and rectum. This results in an inability of the distal bowel to relax in response to a
peristaltic wave causing a functional obstruction. The proximal bowel dilates producing a
megacolon. Aganglionosis begins with the anus, which is always involved, and continues
proximally for a variable distance. It typically extends to the rectosigmoid junction in about 80
percent cases. It is continuous and uninterrupted till the proximal ganglionated segment is
reached. Both the myenteric (Auerbach) and submucosal (Meissner) plexus are absent, resulting
in reduced bowel peristalsis and function.
FREQUENCY
HD occurs once in every 5,000 live births. It may affect more than one family member in 4 to
8 percent cases. The longer the length of the affected segments of the bowel, the higher the rate
of familial incidence.
Figs 5.19A and B: Hirschsprungs disease. (A) Operative photograph of a case of Hirschsprungs disease
showing the narrow and the dilated colon and transitional zone. (B) Barium enema showing transition zone (a
funnel shaped area between the normal distended colon and aganglionic segment)
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EMBRYOLOGY
Ganglion cells, which are derived from the neural crest, migrate caudally with the vagal nerve
fibers along the intestine. These ganglion cells arrive in the proximal colon by 8 weeks of
gestational age and in the rectum by 12 weeks of gestational age. Arrest in migration leads to an
aganglionic segment. This is believed to result in clinical HD.
ASSOCIATED PROBLEMS
HD can be associated with Downs syndrome in 5 to 15 percent cases. Atresia of both small
and large bowel and imperforate anus can be associated. Various neurocristopathies such as
MEN type 2A, Waardenburg syndrome and Smith-Lemli-Opitz syndrome have been described
with HD.
DIAGNOSIS
HD should be considered in any child who has a history of constipation dating back to newborn
period. The usual presentation in the newborn consists of non-passage of meconium within
first 24 hours after birth, delayed passage or prolonged passage of meconium. However this
history may be absent in 6 to 42 percent of patients. Other presenting symptoms are poor
feeding, constipation, persistent distension of abdomen, and emesis. Any form of small or large
bowel perforation in a newborn should raise the suspicion of HD.
Patients with HD are prone to developing enterocolitis, which is the major cause of mortality
and morbidity. The entity manifests clinically with explosive diarrhea, abdominal distension and
fever. In patients with Downs syndrome having HD, the incidence of enterocolitis is very high.
On physical examination, there is distension of abdomen. The perineal examination is important
so that an anterior anus is not mistaken for an HD. Rectal examination is classically said to
reveal an empty anus and rectum that grips the finger and the explosive passage of feces and
gas when the finger is withdrawn. However, rectal examination (or any rectal manipulation,
e.g. insertion of thermometer) should be avoided as it may alter the findings of barium enema.
RADIOGRAPHIC STUDIES
Plain X-ray of abdomen (erect): Plain X-ray may show paucity of gas in the rectal area. In
newborn, perforation may be the initial presenting feature.
Barium enema: The person doing the barium enema should be well versed with the technique.
Enema should be done by hand injection using gentle pressure. A Foleys catheter should not be
used and no rectal manipulation should have been done in 48 hours preceding the procedure.
Classical finding is of a spastic distal intestine with proximal dilated colon. Other features
include an elongated right-sided sigmoid colon that is wider than the rectum. A postevacuation
radiograph 24 hours later may show incomplete evacuation of barium. In newborns, the classical
features may not be prominent.
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ANORECTAL MANOMETRY
This technique relies on the absence of a relaxation reflex in response to rectal distension. It is
unreliable in newborn less than 12 days of age.
RECTAL BIOPSY
This is the gold standard for the diagnosis of HD. Special suction biopsy equipment has been
devised that has made rectal biopsy a bedside procedure. However, the pathological evaluation
of the suction rectal biopsy is considerably more difficult than that of full-thickness biopsy that
is conventionally done.
HISTOLOGIC FINDINGS
Both the myenteric (Auerbach) and submucosal (Meissner) plexus are absent from the muscular
layer of the bowel wall as evident by the absence of ganglion cells. Hypertrophied nerve fibers
enhanced with acetylcholinesterase stain are observed.
In the newborn period, the conditions that may mimic HD are sepsis, prematurity, meconium
plug syndrome, meconium ileus, distal vowel atresia, low imperforate anus and hypothyroidism.
In children beyond six months of age, the important differential diagnosis is habitual constipation
in which soiling is common and obstruction rare. In habitual constipation, the anus is short and
the rectal ampulla is loaded with stools.
ULTRASHORT DISEASE
Ultrashort HD (or anorectal achalasia) has caused a great deal of confusion among clinicians.
The cause of confusion is that these patients have chronic constipation for many years along
with fecal soiling. This makes it difficult to differentiate them from habitual constipation. Further,
the rectal biopsy may show ganglion cells. However, the manometry shows failure of anorectal
relaxation with rectal distension.
TOTAL COLONIC AGANGLIONOSIS
TCA accounts for 3 to 12 percent of HD. Here there is absence of ganglion cells from the entire
colon with varying degree of aganglionosis of the adjacent small bowel. This represents a
difficult problem to treat and carries high mortality and morbidity.
TREATMENT OF HIRSCHSPRUNGS DISEASE
Various techniques have been described that basically pull down the ganglionated portion of
bowel to the internal anal sphincter. The results of these surgeries have been good achieving
reasonable continence in 90 to 95 percent patients. These surgeries can be done in single stage
where facilities of reliable frozen section examination are available and the age and general
condition of the child permit. Many of these surgeries are being done laparoscopically today
with good results.
Ultrashort HD requires an anorectal myectomy, which is both diagnostic and therapeutic.
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PROGNOSIS
Barring TCA, the outcome in infants and children with HD is generally quite good. Most children
obtain fecal continence and control. However, children with Down syndrome may be expected
to have lower rates of continence, and some authors support placement of a permanent ostomy.
ANORECTAL MALFORMATIONS (ARM) (Figs. 5.20A, B and 5.21)

FREQUENCY
ARM or imperforate anus occurs in approximately 1 in 5000 live births.
EMBRYOLOGY
Interference with anorectal structure development at varying stages leads to various anomalies,
ranging from anal stenosis, incomplete rupture of the anal membrane (i.e. covered anus), or
anal agenesis (a low lesion) to complete failure of the upper portion of the cloaca to descend
and failure of the proctodeum to invaginate (a high lesion). Continued communication between
the urinary tract and rectal portions of the cloacal plate causes rectourethral fistulas or rectovaginal
fistulas.
CLASSIFICATION
Its relation to the levator ani muscles broadly classifies ARM. Levator ani is a funnel shaped
muscle. Atresias where the lowermost end of the rectum ends above the levator muscle complex
are defined as high (supralevator) anomalies. The ones in which the lower end is located within
the levator funnel are termed intermediate (translevator) anomalies. Both these lesions very
often include a fistula from the atretic rectum and the genitourinary tract. Infralevator lesions
(i.e., low) are more likely to have perineal or posterior fourchette fistulas.
Figs 5.20A and B: ARM in males (A) Classification of ARM in males (B) Low ARM-note the meconium track
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ASSOCIATED PROBLEMS
The anomalies to be looked for are the members of the VACTERL (vertebral, anorectal, cardiac,
tracheo-esophageal, renal and limb) association. Duodenal atresia and Down syndrome are the
other associated problems.
PRESENTATION
Routine newborn examinations usually detect ARM early in life. Some types of malformations
(e.g. anterior ectopic anus, anal stenosis) are less readily detected. Patients may present with
these lesions much later with a history of chronic constipation or pain. Delayed presentation is
common in areas where access to medical care is unavailable.
A nasogastric tube should be passed to rule out esophageal atresia that is associated with 10
percent of all ARMs. Associated anomalies should also be looked for especially sacral anomaly
that has a bearing on the future continence.
Males
Males usually present in the neonatal period. The single most important observation in a male
baby with ARM is the presence of meconium track in the perineum. The tract starts from the
normal anal site and proceeds anteriorly in the midline to a variable extent. It is filled with
meconium or air. If this track is present 24 hours after birth, the anomaly is managed as a low
type otherwise intermediate or high. A flat perineum also suggests a high anomaly.
B
Figs 5.21A and B: Female ARM (A) Anovestibular fistula (B) Cloaca
Females
In females, a fistula to the exterior is usually present. The number of openings in the perineum
is observed. Imperforate anus with a single opening in a small introitus implies a cloacal anomaly
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wherein all the three tracts, i.e. urinary, genital and anorectal form a common channel before
opening into the perineum. If two openings are seen, the meconium may be seen coming out of
the posterior (vaginal) opening. This is a rectovaginal fistula. If along with an imperforate anus,
three openings are seen in the perineum, it implies an anterior ectopia or a rectovestibular
fistula.
INVESTIGATIONS
In Males
1. Plain X-ray abdomen (erect): This is a valuable investigation as it gives information regarding
associated anomalies (especially spine), presence of gut perforation and more proximal
obstructions that may be associated (duodenal and esophageal atresia).
2. Invertogram or cross-table lateral view: This is done after 24 hours after birth to define the
lower most extent of bowel gas.
3. Echocardiogram and ultrasonogram: These investigations are done as part of institutional
protocol or on clinical suspicion of a cardiac or renal anomaly.
In Females
No special investigation except a plain abdominal X-ray is usually required. For cloacal anomaly,
an ultrasonogram should be done to look for urinary tract obstruction.
Management of ARM in females and males differs. In males, if a meconium track is visible in
the perineum, a single stage correction using a Y-V anoplasty without colostomy is done. If no
track is visible or there is passage of meconium from the urethra, a colostomy is required. The
patient would later need a definitive surgery for creation of a neo-anus. The commonest technique
used for this purpose is posterior sagittal anorectoplasty (PSARP). 3 months after the PSARP,
closure of colostomy is done.
In females, a definitive procedure can be undertaken early with or without a diverting
colostomy. In cloacal anomalies, in the absence of fistula or in presence of obstruction, a
diverting colostomy is required.
Certain rare varieties of anorectal malformations (e.g. perineal canal) may require different
treatment modalities.
PROGNOSIS
Results of surgery in terms of survival depends upon the associated life-threatening anomalies
and delay in referral. The continence achieved depends on the level of atresia, associated sacral
anomalies, amount of musculature present and operative technique used.
RECTAL PROLAPSE (Fig. 5.22)

Rectal prolapse is the protrusion of a few or all layers of the rectum through the anus.
Predisposing factors include increased intra-abdominal pressure due to straining (as often
occurs in toilet training and constipation), diarrhea, parasitic and neoplastic disease, cystic
fibrosis and malnutrition.
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Patient presents with red prolapsed mass through
anal verge, which may or may not bleed.
It has to be differentiated from rectal polyp and
intussusception.
Treatment consists of treatment of predisposing
factors and strapping the buttocks.
Circumferential injection procedures, Thierschs
wiring or other operative procedures may be
required in resistant, severe and recurrent cases.
Fig. 5.22: Rectal prolapse
CONGENITAL DIAPHRAGMATIC HERNIA (CDH)

(Figs 5.23A, B and 5.24A to D)
FREQUENCY
CDH occurs in 1 per 3000 live births.
PATHOLOGY
Because of visceral herniation into the chest during crucial stages of lung development, airway
divisions and alveolarization are hampered on the ipsilateral as well as the contralateral side.
Development of the pulmonary arterial system parallels development of the bronchial tree, and,
therefore, fewer arterial branches are observed in CDH. Abnormal medial muscular hypertrophy
is observed, and the pulmonary vessels are more sensitive to stimuli for vasoconstriction.
Pulmonary hypertension resulting from these arterial anomalies leads to right-to-left shunting at
atrial and ductal levels. This persistent fetal circulation leads to right-sided heart strain or failure
and to the vicious cycle of progressive hypoxemia, hypercarbia, acidosis, and pulmonary
hypertension observed in the neonatal period. The infant with CDH also has an impairment of
the pulmonary antioxidant enzyme system and is more susceptible to hyperoxia-induced injury.
In 10-15 percent cases, a non-muscular hernial sac is present.
EMBRYOLOGY
The posterolateral diaphragmatic defect is postulated to result from failure of closure of the
pleuroperitoneal canals, one of the four embryological structures that form the diaphragm. The
canal remains open when the intestines return to the abdomen at 10 weeks gestation. Some
intestine and other viscera enter the thorax and lead to compression of the developing lung at
the crucial pseudo glandular stage and shifting of the mediastinum to the contralateral side. This
causes compression of the heart and the contralateral lung as well.
ASSOCIATED PROBLEMS
Intestinal malrotation and gastric volvulus can be associated with CDH.
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B
Figs 5.23A and B: Congenital diaphragmatic hernia (A) Newborn presented with respiratory
distress and scaphoid scaphoid abdomen (B) X-ray showed a left CDH
PRESENTATION
Antenatal Ultrasonography (ANUG)
The diagnosis of CDH is frequently made prenatally as early as 25 weeks gestation depending
on the use of ANUG. Ultrasonography may reveals polyhydramnios, an absent intra-abdominal
gastric air bubble, mediastinal shift, and hydrops fetalis. Differential diagnoses on prenatal
ultrasonography are cystic adenomatoid malformation, pulmonary sequestration, mediastinal
cystic processes (e.g., cystic teratoma, thymic cysts) and neurogenic tumors.
Postnatal
History and clinical findings vary with the degree of pulmonary hypoplasia and visceral herniation.
In the infant presenting in the neonatal period without prenatal diagnosis, variable respiratory
distress and cyanosis, feeding intolerance, and tachycardia are noted. In the physical examination,
the abdomen is scaphoid and chest asymmetrical. On auscultation, breath sounds are diminished
on the side of herniation. Patients may present beyond neonatal period with recurrent chest
infections or intestinal obstruction.
DIAGNOSIS
The diagnosis of CDH is confirmed by a plain radiograph of chest and abdomen, which
demonstrates loops of intestine and/or gastric bubble in the chest. The chest demonstrates
angulation of the mediastinum and shifting of the cardiac silhouette towards the contralateral
side. The abdomen should show paucity or absence of gas shadows. Chest radiographs are
unreliable in assessing the degree of pulmonary hypoplasia.
PROGNOSTIC FACTORS
The prognosis is dependent on a complex interplay of various factors, some of which are:
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Prognostic factors
Onset of symptoms
ANUS (booked pregnancy):
1. Detection
2. Position of stomach
3. Ventricular disproportion
4. Side
Physiological factors
1. PO2 and PCO2
2. Preductal pH
Good
Bad
>24 hours after birth
<6 hours after birth
No or late detection
Below diaphragm
(>90% survival)
None in 3rd trimester
Left
Detection at < 24 weeks

Above diaphragm
(30% survival)
Present in 2nd trimester
Right
Normal/improved on ventilation
>7.2 (100% survival)
Unresponsive
<7 (11%) survival)
TREATMENT
Prenatal Care
The prenatal diagnosis of CDH should be followed by a search for other congenital anomalies
especially neurological and cardiovascular. Mother should be referred to a tertiary care center
where the facilities of respiratory support and services of a pediatric surgeon are available.
CDH, by itself, is not an indication for an elective cesarean section.
It is essential to understand that CDH is a medical and not a surgical emergency. Firstly, nasogastric
intubation should be done to decompress the stomach. If the baby is still having respiratory
distress, endotracheal intubation should be done. Bag and mask ventilation is contraindicated.
Figs 5.24A to D: Congenital Diaphragmatic Hernia. (A) Two days old infant was admitted for respiratory distress
and kept of oxygen. (B) X-ray revealed Right sided diaphragmatic hernia. (C) 3rd post operative day. (D) At the
time of discharge, note the creation of ventral hernia
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Arterial and venous access should be acquired through the umbilical route, if available.
Temperature and volume status of the baby should be maintained. Stressful stimuli should be
kept to the minimum as they result in increase in the already elevated pulmonary artery pressure.
Muscle paralysis and sedation may be employed, if the baby is to be put on a ventilator.
Pressure limited ventilation should be used, allowing the lowest airway pressures required
to stay on the steep side of the pressure volume loop and to maintain preductal oxygen saturation
greater than 90 percent. High-frequency oscillatory ventilation (HFOV) is recommended for
infants with hypercarbia and hypoxemia resistant to conventional ventilation or requiring high
PIP.
Surfactant rescue, if given within 24 hours of birth, is associated with an improvement in
oxygenation in neonates with CDH who were given a poor prognosis antenatally. Inhaled nitric
oxide has proven to be a highly selective pulmonary vasodilator and has been used as rescue
therapy in babies with pulmonary hypertension. Tolazoline is being effectively employed to
lower pulmonary pressures. Extracorporeal membrane oxygenation (ECMO) is being used
with varying success.
Surgical Management
The optimal timing for surgical repair remains unproven. A baby that has not adequately responded
to ventilatory support is unlikely to benefit from surgery. At the same time, there is evidence
that improvement in the pulmonary vascular resistance occurs even without surgical repair if
appropriate ventilatory strategies are employed. Surgically, the herniated viscera are reduced by
an abdominal or thoracic approach and diaphragm is repaired. In very large defects, adjacent
structures are used to cover the defect. The ventilatory support, commenced before surgery, is
continued in the post-operative period. Weaning is done very slowly and deliberately, as tolerated
by the baby.
EVENTRATION OF DIAPHRAGM (Fig. 5.25)

DEFINITION
It is abnormal elevation of intact leaf of the diaphragm, which results
from atrophy, aplasia or paralysis of the muscle fibers.
TYPES
It is either complete (affecting entire hemidiaphragm) or partial (affecting
one portion usually the anterior aspect). It can be congenital or acquired.
ETIOLOGY
In congenital eventration phrenic nerve may be absent or hypoplastic.
It can also be due to birth injuries causing trauma to phrenic nerve.
SYMPTOMS AND MANAGEMENT
Fig. 5.25: Eventration of

diaphragm
Eventration of diaphragm may be asymptomatic or may present with recurrent chest infections
and respiratory distress. The symptomatic eventrations requires repair by plication through
abdominal or thoracic approach.
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PHIMOSIS (Figs 5.26A and B)

Phimosis is the inability to retract the distal prepuce over the glans penis. There are two kinds
of phimosis, based on age and pathophysiology: congenital phimosis and acquired phimosis.
Once the foreskin can be retracted so that the glans penis partially appears, a phimosis is no
longer present.
ANOTOMICAL CONSIDERATIONS
Newborn foreskin cannot be retracted due to natural adhesions between foreskin and glans.
Later epithelial debris (smegma) accumulates and separates both structures. The acquired phimosis
results from either trauma (forceful stretching) poor hygiene causing chronic balanoposthitis
or balanitis xerotica obliterans (BXO). BXO is a chronic inflammatory process resulting in
sclerotic epithelial changes of the glans penis, prepuce and urethral meatus individually or
collectively. This can result in narrowing of the prepuce as well as urethral meatus.
Figs 5.26A and B: Phimosis (A) In a newborn (B) Balanitis xerotica obliterans
SYMPTOMS
In young child there is difficulty in micturition and, ballooning of prepuce as it becomes full.
There may be recurrent posthitis causing pain and purulent discharge.
In severe phimosis back pressures may lead to hydroureter and hydronephrosis.
Forceful retraction may result in paraphimosis.
EXAMINATION
It is difficult to retract prepuce in infant less than one year age due to adhesion between prepuce
and glans. But it is possible to retract loose skin until one see the orifice in the prepuce and
assess its size.
TREATMENT
Tight preputial orifice, ballooning of prepuce during micturition with poor urinary stream,
recurrent posthitis, BXO and recurrent urinary tract infection are considered to be indications
for circumcision.
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PARAPHIMOSIS (Figs 5.27A and B)

Paraphimosis is the entrapment of a retracted foreskin behind the coronal sulcus and can
occur in an uncircumcised penis. This results into a constricting ring leading to engorgement
and edema of the glans. It is a surgical emergency that requires prompt reduction of prepuce
or circumcision to prevent ischemia to the glans.
CLINICAL FEATURES
It is common in teenage boys. This condition is unnoticed for many hours, because it is not
painful until the glans begins to swell.
Figs 5.27A and B: Paraphimosis. (A) Paraphimosis in a 3-year-old child. Note the tight constricting ring formed
by the trapped foreskin proximal to glans. (B) After manual reduction, oedema takes a few hours to subside
First complaints are swelling and discomfort in the glans. The skin below the corona becomes
red and sore and a tight constricting band is seen.
TREATMENT
Nonsurgical reductionThe penis is held proximal to foreskin by index and third finger of
each hand. Pressure is given on the glans by the thumb to push it back. It is like turning a
sock inside out.
Use of hyaluronidaseOne ml of normal saline containing 150 turbidity unit of hyaluronidase
is injected in the lateral aspect of swollen ring of prepuce. Reduction is then tried after
fifteen minutes.
CircumcisionWhen other measures fail.
LABIAL ADHESIONS (Figs 5.28A and B)

DEFINITION
It is the fusion of labia minora which extends from clitoris to fourchette. A vertical thin raphe in
the midline over the site of vaginal orifice is seen.
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Figs 5.28A and B: Labial adhesion: (A) A thin vertical raphe is seen in the midline (B) After separation
ETIOLOGY
The exact cause is not known but it is thought to be due to local inflammation of vagina in the
presence of hypoestrogenic state of a preadolescent child. This causes agglutination of inflamed
and injured vaginal epithelium.
It is usually seen between 3 months to 5 years of age.
This condition is asymptomatic and mostly discovered by parents. Sometime it is associated
with dribbling and urinary infection.
TREATMENT
If treatment is necessary or demanded, estrogen cream application is advised. The labia take 28 weeks to separate. Once the labia separate, antibiotic ointment is applied till complete healing.
Parents should be aware that some girls, and even infants, will experience a small amount of
breast development during treatment.
SURGICAL CARE
If medical care does not result in separation of the labia minora, surgical lysis should be considered.
Depending upon the maturity of the child and the expectations of the parents, surgical separation
can be performed in a surgeons office or operation theatre.
HAIR-TOURNIQUET SYNDROME (Figs 5.29A to C)

A strand of hair, wrapped tightly around a protruding body part (i.e., finger, toe, penis) can
impair the circulation of blood to that part. This is especially likely to happen to infants. Hair
tourniquet syndrome frequently occurs during the time period when post partum mothers are
experiencing increased hair loss. Although most cases are felt to be accidental, child abuse must
be considered in selected cases. In girls in late childhood, clitoris may get strangulated by hair.
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C
Figs 5.29A to C: (A) Hair tourniquet (B) Urethral fistula (C) The culprit
hair. Photograph courtsey: Dr Prof. Bhudwani (Bhopal)
PATHOGENESIS
Human hair is extremely thin and, therefore, easily overlooked, especially when there is a
foreign body reaction and local swelling. Hair has a tensile strength of greater than 29,000
pounds per square inch. It also stretches when wet, and contracts and tightens as it dries.
These characteristics make it an excellent agent for unintentional constriction. The constricting
hair may decrease lymphatic drainage from the appendage. The lymph edema so produced
impedes venous drainage, causing more edema and eventually prevents arterial flow to the
tissue. If left unrelieved obstruction will lead to necrosis and tissue loss.
DIAGNOSIS
It is always based on clinical examination which at times is difficult due to edema or the hair
being masked by the skin fold. Prompt removal of the hair by unwinding or cutting prevents
complications like urethral fistula or gangrene. When severity is unclear, it is safer to err on the
side of formal inspection in the operating room. If there is any doubt about the presence of a
retained hair, and incision should be made at the depressed area on one side of the latero-inferior
aspects of the penis. This will avoid injury to the urethra, the main nerves and to the blood
supply.
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VESICOURETERAL REFLUX (VUR)44,45 (Fig. 5.30)

Vesicoureteral reflux (VUR) is the retrograde flow of urine from the bladder into the ureter.
Primary reflux is VUR in an otherwise normally functioning lower urinary tract, while secondary
reflux is VUR that is caused by an obstructed or poorly functioning lower urinary tract, such as
that observed with posterior urethral valves or a neurogenic bladder. In both conditions, the
ureterovesical junction (UVJ) fails to function as a one-way valve, giving lower urinary tract
bacteria access to the normally sterile upper tracts.
PATHOPHYSIOLOGY
The distal part of ureter resides in a submucosal tunnel before opening into the bladder lumen
via the ureteral orifice. If the length or obliquity of the submucosal tunnel or its muscular
backing is inadequate, the valve mechanism is incompetent, resulting in reflux. Primary reflux
is a congenital abnormality of the ureterovesical junction. Reflux can occur secondary to raised
intravesical pressure (bladder outlet obstruction or neuropathic bladder).
Ascending infection is the essential cause of reflux nephropathy. Scarring may result from
a single episode of pyelonephritis, especially in very young patients. Most scarring tends to
occur at the renal poles, where the anatomy of the renal papillae permits backflow of urine into
the collecting ducts (intrarenal reflux). This gives pathogenic bacteria access to the renal tubules.
The subsequent infection and inflammation results in tissue ischemia and fibrosis. This results
in hypertension, renal insufficiency, and renal failure.
INCIDENCE
The incidence of VUR is less than 1% in healthy children. Females are affected 5-6 times more
often than males. Children with UTIs have a much higher incidence of VUR (i.e., 70%). Today,
the incidence of prenatally diagnosed hydronephrosis caused by VUR ranges from 17 to 37% in
the pediatric population, and approximately 30 to 50% of children affected with VUR present
with pyelonephritic scars.
Fig. 5.30: Voiding cystourethrogram depicting Vesico-ureteric reflux. In a male baby with urethral valve
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CLASSIFICATION
The International Reflux Grading system classifies VUR into 5 grades based on the voiding
cystogram:
Grade I: Urine backs up into the ureter only, and the renal pelvis appears healthy, with sharp
calyces.
Grade II: Urine backs up into the ureter, renal pelvis, and calyces. The renal pelvis appears
healthy and has sharp calyces.
Grade III: Urine backs up into the ureter and collecting system. The ureter and pelvis
appear mildly dilated, and the calyces are mildly blunted.
Grade IV: Urine backs up into the ureter and collecting system. The ureter and pelvis appear
moderately dilated, and the calyces are moderately blunted.
Grade V: Urine backs up into the ureter and collecting system. The pelvis severely dilates,
the ureter appears tortuous, and the calyces are severely blunted with loss of papillary
projections.
CLINICAL PRESENTATION
Most children with VUR present in 1 of 2 distinct groups. The first group presents with
hydronephrosis, often identified antenatally by ultrasound. The second group presents with
clinical UTI. Even for experienced pediatricians, the diagnosis of UTI in children can be difficult.
Infection in infants can manifest as failure to thrive, with or without fever. Other features
include vomiting, diarrhea, anorexia, and lethargy. Older children may report voiding symptoms
or abdominal pain.
MANAGEMENT
Once the UTI is established by a suprapubic urine culture an ultrasound is recommended as
first line investigation in the evaluation of VUR. The anatomy of the bladder and the dilatation of
the upper tract are principally evaluated. Once the episode of UTI is treated a voiding
cystourethrogram is recommended in younger children to demonstrate and grade the reflux. A
nuclear renal scan (DMSA or MAG3) is done to look for renal parenchymal scars.
Majority of the VURs are treated medically. This conservative approach relies on spontaneous
resolution of vesicoureteral reflux; there is an approximately 15% down gradation of reflux
every year. The patient is kept on chemoprophylaxis using cephalexin for children younger than
6 months and co-trimaxazol or nitrofurantoin for older children. Urine examination and imaging
is done periodically.
The indications for surgery are:
1. Unilateral gr. V or bilateral gr. IV reflux or above
2. Break through infections despite adequate chemoprophylaxis
3. Non- compliant patient
4. Fresh scars on nuclear scan
5. Correction of primary problem in secondary reflux
6. Circumcision for lower grade reflux (not established)
7. Subureteric injection of non-biodegradable material (e.g. deflux) (not established)
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POSTERIOR URETHRAL VALVE (PUV) (Figs 5.31A and B)

PATHOLOGY
Posterior urethral valve is an abnormal congenital obstructing membrane located within the
posterior male urethra. It causes antenatal obstruction to the bladder outlet. The entire urinary
tract develops in an abnormal environment of high intraluminal pressure due to mechanical
obstruction. Permanent defects in the function of the kidney, ureters and bladder may result
from prenatal maldevelopment and do not resolve despite adequate decompression of the urinary
tract after birth. The renal insult may occur due to dysplasia, high pressure and infection.
Hydronephrosis occurs due to high backpressures, deficient development of ureteric musculature,
high urinary flow due to lack of concentrating ability of the nephron or abnormalities of the
vesicoureteral junction such as reflux or, rarely, ureterovesical obstruction. Vesicoureteral reflux
is present in one half of patients and may be secondary to high bladder pressure or due to an
abnormal ureteral orifice position caused by abnormal ureteral bud development during
embryogenesis.
Bladder dysfunction is thought to be secondary to alterations in collagen deposition and the
development of detrusor smooth muscle cells. These may not improve after adequate fulguration.
Several protective (pop-off) mechanisms may develop in boys with posterior urethral valve,
which may lower intraluminal pressures. These include massive unilateral vesicoureteral reflux
(usually associated with an ipsilateral dysplastic kidney known as vesicoureteral reflux and
dysplasia syndrome), bladder diverticula, and urinary ascites.
FREQUENCY
PUV is the most common cause of lower urinary tract obstruction in male neonates; reported
incidence is 1 per 8,000 to 1 per 25,000 live births.
EMBRYOLOGY
Embryologically, posterior urethral valves are thought to arise due to an abnormally anterior
insertion of the mesonephric (wolffian) duct on the cloaca prior to its division into urogenital
sinus and the anorectal canal. ASSOCIATED PROBLEMS: Due to bladder outlet obstruction
there may be associated oligohydramnios resulting in pulmonary hypoplasia and Potters facies.
PRESENTATION
The clinical presentation is extremely variable. Increasingly, posterior urethral valves are identified
on antenatal ultrasonography. Oligohydramnios, bilateral hydronephrosis, and incomplete
emptying of a thick-walled bladder may be seen. Severely affected newborns may exhibit
respiratory difficulties due to pulmonary hypoplasia.
A presentation in the neonatal period with abdominal distension due to dilated bladder, ureters,
and kidneys or due to urinary ascites is also recognized. If not recognized at birth, severely
affected boys often present with urosepsis, dehydration, electrolyte abnormalities, or failure to
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thrive within weeks of birth. A poor urine stream may be noted. Toddlers often present with
voiding dysfunction or UTI, and school-aged boys usually come to attention because of urinary
incontinence.
PRENATAL MANAGEMENT
Prenatal intervention is limited to a few centers. Options include percutaneous placement of a
vesicoamniotic shunt, open fetal surgery, and fetal cystoscopic ablation. Significant complications
may occur, resulting in maternal or fetal morbidity as well as fetal loss. Pulmonary function has
been shown to benefit from the reversal of oligohydramnios, but no renal benefit has been
noted.
Postnatally, the baby is examined for respiratory distress and presence of bladder and renal
mass (unilateral or bilateral). An ultrasound is repeated to look for hydroureteronephrosis, bladder
wall thickness, dilatation of posterior urethra and presence of urinary ascites. In the absence of
urosepsis, renal failure or urinary ascites the baby can be taken for a voiding cystourethrogram
(VCUG), cystoscopy and valve fulguration, preferably in the same sitting. The VCUG shows a
dilated posterior urethra, which is suggestive of a PUV. It may also show an irregular walled,
small capacity bladder and vesicoureteral reflux. The valve is confirmed on cystourethroscopy
and fulgurated.
Figs 5.31A and B: Posterior urethral valve: (A) Diagrammatic representation (B) cystourethrogram shows
dilatation of posterior urethra, small capacity irregular bladder and vesicourethral reflux
However, in very sick patients where there is presence of urosepsis, urinary ascites or renal
failure (defined as a serum creatinine > 1 mg%) the baby (or child) is kept on bladder drainage
(suprapubic or urethral) and intravenous antibiotics. If it improves on bladder drainage, VCUG
and valve fulguration is done. In about 15 percent cases no improvement occurs. These patients
are subjected to bilateral ureterostomies with plan for valve fulguration and urinary tract
reconstruction later.
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PROGNOSIS
The prognosis is determined by a number of factors such as renal functions at the time of
presentation, improvement of renal functions on bladder drainage, presence and grade of
vesicoureteric reflux, intercurrent infections and adequacy of fulguration. It is important to
understand that the obstruction to the bladder outlet is a chronic one and occurs at a time when
the urinary tract musculature is undergoing developmental changes. Therefore, many irreversible
changes result in the bladder muscles that persist after an adequate fulguration. These have a
bearing on the final outcome and may require additional therapy (pharmacological or surgical)
to bring down the urinary tract pressure and provide complete drainage to the bladder.
BLADDER EXSTROPHYEPISPADIAS (Figs 5.32, 5.33A and B)

The exstrophy-epispadias complex comprises a spectrum of congenital abnormalities that includes
classic bladder exstrophy, epispadias, cloacal exstrophy, and several variants.
FREQUENCY
Prevalence of classic bladder exstrophy is 3.3 per 100,000 births; male epispadias occurs in 1
in 117,000 births, female epispadias in 1 in 484,000 births, and cloacal exstrophy in 1 in 200,000400,000 births.
PATHOLOGY
Abdomen: Classic bladder exstrophy: The bladder is open on the lower abdomen, with mucosa
fully exposed through a triangular fascial defect. Urine can be seen dribbling from the ureteric
orifices, which can be identified on close examination. The distance between the umbilicus and
anus is foreshortened. Rectus muscles diverge distally, attaching to the widely separated pubic
bones. Indirect inguinal hernias are frequent (>80 percent of males, >10% of females) due to
wide inguinal rings and the lack of an oblique inguinal canal.
Fig. 5.32: Bladder extrophy and epispadias in male
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GENITALIA
Classic bladder exstrophy and Epispadias (male): The phallus is short and broad with upward
curvature (dorsal chordee). The glans lies open and flat like a spade, and the dorsal component
of the foreskin is absent. The urethral plate extends the length of the phallus without a roof. The
bladder plate and urethral plate are in continuity. The anus is anteriorly displaced.
MUSCULOSKELETAL
Musculoskeletal abnormalities occur mostly in classic bladder exstrophy and more severe variants.
The pubic symphysis is widely separated. Divergent rectus muscles remain attached to the
pubis. External rotation of the innominate bones results in a waddling gait in ambulatory patients
but does not appear to result in orthopedic problems later in life.
EMBRYOLOGY
Failure of mesenchyme to migrate between the ectodermal and endodermal layers of the lower
abdominal wall leads to instability and rupture of the cloacal membrane leading to this complex
of infraumbilical anomalies.
PRENATAL ULTRASONOGRAPHY
Antenatal ultrasound findings suggestive of exstrophy-epispadias complex include repeated
failure to visualize the bladder, low-set umbilical cord, lower abdominal wall mass and abnormal
genitalia.
Patients typically appear as term infants. One should look for associate spinal and cardiovascular
anomalies that may be associated with more complex variant, i.e. cloacal exstrophy. Baseline
ultrasound examination of the kidneys is recommended for all patients with exstrophy. A clean
plastic wrap should be placed over the bladder plate. Moistened or impregnated gauze should be
avoided, as it is irritating to the delicate bladder mucosa. Antibiotic therapy should be started
after delivery and continued through the early postoperative period.
Though still evolving, operative management is the accepted treatment of bladder exstrophy.
Left untreated, the continuous smell of urine makes such patients socially unacceptable. Also
there is a risk of malignant transformation of the bladder mucosa.
Reconstruction of exstrophy-epispadias complex remains one of the greatest challenges
facing the pediatric urologist. Many modifications in surgical procedures have improved the
outcome for these patients, but the goal to make the child grow into a dry, fertile and happy
adult is yet to be fulfilled. Surgical technique classically comprises of staged functional closure
for classic bladder exstrophy. Initial bladder closure is completed within 72 hours of birth. If
delayed, pelvic osteotomies are required to close the abdominal wall. Epispadias repair with
urethroplasty at age 12-18 months allows enough increase in bladder outlet resistance to improve
the bladder capacity. Bladder neck reconstruction at age 4 years allows continence and correction
of vesicoureteral reflux.
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Recently single stage complete primary repair is being tried with some success. Urinary
diversion may be required for some cases.
PROGNOSIS
Evidence indicates that many exstrophic bladders do not function normally after reconstruction
and may deteriorate over time. Some studies have reported continence rates of 75 to 90 percent
after staged reconstruction in classic exstrophy, but more than one continence procedure are
usually required (e.g., bladder neck reconstruction, bladder augmentation, bladder neck sling,
artificial urinary sphincter). Many of these patients require life long clean intermittent
catheterization (CIC) through the urethra or a continent stoma because they are unable to void
spontaneously to completion.
VARIANTS
Among the variants of the above-described classic bladder exstrophy are continent and incontinent
hypospadias, pubovesical cleft and covered exstrophy.
A severe variant of bladder exstrophy is cloacal exstrophy that occurs in 1 in 200,000400,000 births. Patients are often preterm. Nearly all patients have an associated omphalocele.
The bladder is open and separated into 2 halves, flanking the exposed interior of the cecum.
Terminal ileum may prolapse as a trunk of bowel onto the cecal plate. The anus is absent. The
phallus is generally quite small and bifid. Often the testis may not be palpable and gender
assignment becomes difficult. As many as 95 percent of patients have myelodysplasia. This is
a far more complex condition to treat. Result of surgery remains poor.
Figs 5.33A and B: (A) Cloacal exstrophy with limb anomalies (B) Meningocele in the same patient
RHABDOMYOSARCOMA (RMS) (Figs 5.34A and B)

Rhabdomyosarcoma is the most common type of soft tissue sarcoma found in children. It is
still a rare cancer overall, accounting for about 3.5 percent of all childhood cancers. Over 85
percent of all rhabdomyosarcomas occur in infants, children, and teenagers. However, Asian
children have a lower annual incidence than do white children.
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PATHOLOGY
The head and neck are the most frequent (35-40%) sites of origin, followed by the genitourinary
tract, extremities, trunk, retroperitoneum, and uncommon regions (e.g., intrathoracic, GI tract,
perianal and anal regions). Although the tumor is believed to arise from primitive muscle cells,
tumors can occur anywhere in the body except bone.
Rhabdomyosarcoma is divided into 5 major histologic categories: embryonal, alveolar, botryoid
embryonal, spindle cell embryonal, and anaplastic. Embryonal rhabdomyosarcoma is the most
common subtype observed in children, accounting for approximately 60 percent of all cases in
this age group.
STAGING
The TNM staging system uses a preoperative evaluation to stage the tumour:
Stage Itumors involving the area near the eye, the head, neck, and genitourinary tract
(except the prostate and bladder). The tumor is localized, meaning that the tumor has not
spread to other areas of the body.
Stage IIsmall, localized tumors less than 5 cm in any site not in stage I. There are no
tumor cells in the surrounding lymph nodes.
Stage IIIlocalized tumor at any site not included in stage I that is larger than 5 cm and/or
has spread to surrounding lymph nodes.
Stage IVdisease that has spread to other areas of the body at the time of diagnosis.
PATHOGENESIS
Rhabdomyosarcomas usually have some type of chromosomal abnormality in the cells of the
tumor, which are responsible for the tumor formation. The cause of these chromosomal
abnormalities is unknown.
PRESENTATION
RMS usually manifests as an expanding mass; symptoms depend on the location of the tumor.
Pain may be present. If metastatic disease is present, symptoms of bone pain, respiratory
difficulty (secondary to lung nodules or to pleural effusion), anemia, thrombocytopenia, and
neutropenia may be present. Disseminated rhabdomyoblasts in the bone marrow may mimic
leukemia.
Typical presentations by the location of nonmetastatic disease are as follows:
OrbitProptosis or dysconjugate gaze
ParatesticularPainless scrotal mass
ProstateBladder or bowel difficulties
VaginaProtruding polypoid mass (botryoid, meaning a grapelike cluster)
ExtremityPainless mass
Parameningeal (ear, mastoid, nasal cavity, paranasal sinuses, infratemporal fossa,
pterygopalatine fossa)Upper respiratory symptoms or pain.
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Figs 5.34A and B: (A) Rhabdomyosarcoma of the tongue. (B) after treatment
Photograph courtsey: Dr. Prof Bhudwani (Bhopal)
DIAGNOSIS
The initial diagnostic workup must address two basic issues. The nature of the primary disease
is determined by a surgical biopsy and extent by either CT or MRI. Next, the clinician must
evaluate the patient for locoregional or metastatic disease. This evaluation is accomplished by
performing a battery of adjunctive studies, including bone marrow biopsy, chest CT, and bone
scanning.
TREATMENT
Treatment in patients with RMS involves a combination of surgery, chemotherapy, and radiation
therapy.
PROGNOSTIC FACTORS
1. The site of origin: Head and neck rhabdomyosarcoma affecting the orbit and nonparameningeal
area have a prognosis more favorable than that of patients with tumors in other sites in the
body.
2. Tumor burden: Individuals with tumors smaller than 5 cm have a better prognosis when
compared with those with larger tumors.
3. Regional and distant metastasis: Regional nodal involvement is a poor prognostic marker.
4. Age: Patients who are younger than 10 years have a better prognosis compared to older
children. But infants tend to have a poorer prognosis again as they tolerate chemotherapy
poorly.
5. Histology: The embryonal histology has a better survival than other types and the alveolar
variety has the worst prognosis.
6. Residual disease: Patients without residual disease have a 90 percent 5-year survival rate. In
patients with microscopic residual disease, survival decreases to 80 percent, and those with
gross disease after surgery have a 5-year survival rate of 70 percent.
7. Biologic factors: Patients whose tumor cells have a DNA content 1.5 times higher than
normal (hyperdiploid) have a better outcome than those with normal (diploid) or twice
normal (tetraploid) DNA content.
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PROGNOSIS
In patients with localized disease, overall 5-year survival rates have improved to >80 percent
with the combined use of surgery, radiation therapy, and chemotherapy. However, in patients
with metastatic disease, little progress has been made in survival rates, with a 5-year event-free
survival rate <30 percent.
CONJOINT TWINS (Fig. 5.35)

Although the earliest recorded of conjoined twins is that of the Maids of Biddenden in England
in 1100, the term Siamese twins was given to the Bunker twins of Siam born in 1811. At that
time Siamese twins were considered freaks. Today, more than 150 set of conjoined twins have
been separated successfully.
INCIDENCE
Conjoint twins occur in the frequency of 1 in 50000 live births being more common in South
Africa and Asia. Most conjoint twins who survive long enough to become candidates for separation
are females, but if stillborns are included, there is a male predominance. Parasitic or heterotopic
twins are exceedingly rare, occurring in 1 per million live births.
EMBRYOLOGY
Zimmerman suggested that conjoint twins results when the inner cell mass incompletely divides
after the first seven days of when monozygotic twinning is supposed to occur (between 13 and
16 days after fertilization). This is associated with inhibition of complete differentiation of
various organ systems.
CLASSIFICATION
The classification is based on the most prominent site of connection that is added to the term
pagus (that which is fixed).
Type position
Incidence organ potentially involved
Relative
Thoracopagus 74%
Omphalopagus 1%
Pyopagus 17%
Ischiopagus 6%
Craniopagus 2%
Heart, liver, intestine

Liver, biliary tree, intestine
Spine, rectum, gu tract
Pelvis, liver, intestine, gu tract
Brain side to side
Face to face
Face to face
Face away
Face to face
ANTENATAL DIAGNOSIS
The antenatal diagnosis of conjoined twins can be made with ultrasonography (US) as early as
12 weeks gestation and is important for optimal obstetric management. More accurate evaluation
of visceral conjunction is possible from 20 weeks gestation and should include fetal
echocardiography. The degree of cardiac fusion and the severity of associated cardiac anomalies
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Fig. 5.35: Conjoint twins. Mono cephalus tetrapus dibrachius.

Photograph courtsey: Dr. Prof. Bhudwani (Bhopal)
determine the postnatal viability of the twins and the likelihood of successful separation. Conjoined
hearts are easier to examine in utero because the amniotic fluid acts as a buffer during US. After
birth, the lungs inflate with air and thoracic fusion prevents optimal access. Other US features
that suggest the antenatal diagnosis of conjoined twins include constant relative positions of the
fetuses over time, with heads and other body parts persistently at the same level; inseparable
body and skin contours; fetuses facing each other with hyperflexion of the cervical spines;
fewer limbs than expected; shared organs; and a single umbilical cord with more than three
vessels.
Antenatal MR imaging has been of limited clinical value owing to poor image quality before
ultrafast scanning techniques were developed. Ultrafast MR imaging provides excellent contrast
with cerebrospinal fluid between the brain and spinal cord. Compared to ultrasonography,
ultrafast MRI facilitates more precise visualization of antenatal brain characterization and spinal
cord anomalies.
MANAGEMENT
Accurate antenatal assessment allows the parents to be counseled in depth as to the likely
outcome of the pregnancy and the chances of postnatal separation and survival. Most conjoined
twins are delivered at 36 to 38 weeks gestation by elective cesarean section, often at centers
where appropriate obstetric and pediatric surgical facilities are readily available. The postnatal
management of conjoined twins is determined by the effect of shared viscera on stability and
long-term viability. Therapeutic options include nonsurgical management, emergency separation,
or planned separation.
Twins in whom the prognosis is poor for both infants because of complex cardiac connections
or other life-shortening anomalies are treated conservatively with supportive measures and no
attempt at surgical separation. The indications for emergency surgery include the following:
one twin is stillborn or has anomalies incompatible with survival; damage to the connecting
bridge; ruptured omphalocele or other life-threatening event; and congenital anomalies that are
surgically correctable but would be fatal if not treated. Here one twin may have to be sacrificed
to save the other.
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The ideal is elective surgery at 6 to 12 months of age to allow time for growth, tissue
expansion, and accurate imaging demonstration of the anatomic union and associated anomalies
to aid surgical planning. The goal of separation is the survival of one or both twins with a
reasonable quality of life.
The surgical procedure performed depends on the site and complexity of the conjunction
and the types of organs shared. The surgical separation is developed on an individual basis and
requires precision planning and a multidisciplinary approach. During the preoperative assessment
period, the surgeons hold regular, detailed, multidisciplinary meetings in which imaging plays a
vital role, and the findings determine whether the specialist pediatric surgeons require assistance
from experts in cardiothoracic, orthopedic, or urologic surgery. The meetings also involve
anesthetists, intensive care and surgical theater nurses, therapists, surgical theater staff, and
management and public relations personnel. During the preoperative planning, two separate
surgical teams are established, each with responsibility for one of the twins; an experienced
general pediatric surgeon usually takes charge of overall coordination.
Accurate determination of anatomy and vascular supply is important in planning the separation
of the twins. Evaluation of vascular shunts and cross-circulation is important for anesthetic
management and to allow ligation and separation of these vessels early during surgery to prevent
hypovolemic shock from loss of blood volume through these shared vessels. Once all organ
systems have been evaluated and vascular territories have been established, the multidisciplinary
team reviews the information to plan separation. Decisions are made about how organs will be
distributed between the twins, the order of organ separation, anesthesia, monitoring of vital
signs, and wound closure, including plans for preoperative tissue expansion and postoperative
care. Use of diagrams, three-dimensional organ models, and complete rehearsals of the separation
procedure is done to ensure that each member of the team is familiar with his or her role and the
overall plan of the surgery so that the actual operation proceeds as smoothly as possible.
PROGNOSIS
The outcome of surgery and the long-term survival of separated twins depend on numerous
factors. Results depend on the site and complexity of the conjunction, the extent of shared
organs, and the severity of associated anomalies, as well as the general medical condition of the
twins at the time of separation. There is a higher mortality rate for twins separated in the
neonatal period. The outcome is better in twins who do not share vital organs such as the heart
or brain, and the best results are reported for omphalopagus twins and pygopagus twins without
neural involvement. After separation, there are often large areas devoid of skin; despite use of
preoperative tissue expansion, primary wound closure is not always possible, increasing the
risk of postoperative sepsis in these individuals. The success of surgery in ischiopagus twins
depends largely on the extent of union. Separation and reconstruction of the bony pelvis,
urogenital tract, and lower gastrointestinal tract is associated with significant morbidity, especially
as many of these twins will have only one leg. In craniopagus twins, sharing of neural tissue
often precludes surgery; in other cases, success depends on the extent of shared dural venous
sinuses, as division and reconstruction of these are difficult with a high risk of hemorrhage.
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PARASITIC TWINNING (Figs 5.36A, B and 5.37A to C)

A parasitic twin is the result of a situation related to the process that results in teratomas,
vanishing twin, and conjoined twins; two unique embryos begin developing in uteroexcept
one of the twins stopped developing during gestation and is now vestigial to a healthy, otherwise
mostly fully-formed individual twin. Fetus in fetu describes an extremely rare abnormality that
involves a fetus getting trapped inside of its twin. It continues to survive as a parasite even past
birth by forming an umbilical cord-like structure that leeches its twins blood supply until it
grows so large that it starts to harm the host, at which point intervention is required. Invariably
the parasitic fetus is anencephalic and lacks internal organs, though it may have limbs, digits,
hair, nails and teeth. Fetus in fetu is such a rare condition that only some 91 cases worldwide
have ever been reported. Usually, both twins die before birth. Sometimes, however, the host
twin survives and is delivered.
Figs 5.36A and B: Conjoint twins. (A) Conjoint twins Ischiopagus tetrapus (B) Conjoint twins parasitic
Figs 5.37A to C: Postoperative photographs (A) The child (B) The removed parasitic part
(C) The patient at 12 years of age. Photograph courtsey: Dr. Vinay Gupta (Bilaspur)
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Craniopagus parasiticus is a condition in which a parasitic twin head is attached to the head
of a developed twin. This kind of parasitic twinning is inseparable. An example is the TwoHeaded Boy of Bengal, who was born in 1783 and died of a cobra bite in 1787. His skull
remains in the collection of the Hunterian Museum of the Royal College of Surgeons of London.
EMPYEMA THORACIS (ET)4649 (Figs 5.38 A to C)

Empyema thoracic is characterized by presence of pus or microorganism in the pleural fluid.
Microorganisms may be seen on smear examination or on culture. In the absence of
microorganism, the diagnosis is made if the following criteria are met: (a) The pH of pleural
fluid is less than 7.0; (b) Lactic dehydrogenase (LDH) is more than 1000 IU/L, glucose is less
than 40 mg/dl or lactate is more than 5 mol/L or 45 mg/ml(2-4).
PREDISPOSING CONDITIONS
Malnutrition: seen in nearly 60% cases with 25% severely malnourished.
Immunity: Both humoral and cell mediated immunity are affected. CMI change is more pronounced
Viral infection e.g. measles and chicken pox predispose to ET. Best regards,
Pustules have been seen to precede the development of ET.
Seasonal variations: The studies reported from India have shown a seasonal predilection where
ET is seen more commonly in summer than in winter. The most common causative organism
also seems to vary Staphylococcus aureus (the commonest organism reported from India) in
summers and staphylococcal pneumoniae (the commonest organism reported in western
literature) in winters.
CAUSATIVE ORGANISMS
The commonest organism seen in the tropical countries is staphylococcus aureus. Other
organisms reported are S. pneumoniae, Klebsiella aerogenes, S. faecalis and methicillin-resistant
Staph. aureus. The commonest organism reported in western studies is Streptococcus
pneumoniae. Frank tuberculous empyema is rare, occurring in only about 2 percent cases of
tuberculous pleurisy
PATHOPHYSIOLOGY
Para-pneumonic effusions that occur in first 48 to 72 hours are small, sterile polymorphonuclear
leucocytes (PMNS) predominant exudate with pleural fluid pH more than 7.30, glucose more
than 60 mg/dl and LDH less than 500 IU/L .
This is the exudative stage. The fibrinopurulent stage is marked by bacterial invasion and
lasts from 4 to 14 days. In this stage, there is fibrin deposition in pleura. This is marked by
septations, loculations and thickening of pleural fluid. After 14 days the pus organizes to form
an inelastic peel that restricts lung expansion and is impermeable to drugs. This is the
organizational stage and is seen most commonly with Staph aureus. An ET may get complicated
by bronchopleural fistula, parenchymal necrosis or empyema necessitates.
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Figs 5.38A to C: Empyema thoracic (A) Five-year-old boy presented with pyrexia, breathlessness, cough.
Examination revealed bulging of left hemithorax, reduced breath sound and stoney dull note on percussion
overleft hemithorax. (B) X-ray chest revealed opaque left hemithorax with shifting of trachea to right side (C)
Intercostal chest drainage ICD with wide bore chest tube
PRESENTATION
ET can have a pneumonia like presentation where there is high fever, cough, breathlessness and
abdominal and chest pain. Any pneumonia that is not responding to 48 hours of parenteral
antibiotic therapy should be suspected to be having ET.
Another presentation is like that of a space-occupying lesion hampering normal respiratory
movement and causing bulging of the hemithorax. On examination there is decreased movement
and air entry, dullness on percussion, mediastinal shift and later scoliosis.
INVESTIGATIONS
1. Chest radiograph - erect (PA or AP): The earliest evidence is the obliteration of the
costophrenic angle. Later the meniscus sign develops and with further increase in fluid,
there is mediastinal shift and finally the entire hemithorax may be white out. As pleural
thickening ensues, scoliosis appears with concavity towards the affected hemithorax. A
lateral chest radiograph not required routinely.
2. Ultrasonography: USG has emerged as an extremely useful tool to diagnose small amounts
of pleural effusion and to guide further interventions. It gives information regarding the size
and thickness of the effusion as well demonstrates pleural thickening. It can be used as a
guide to thoracocentesis and drainage.
3. CAT scan: is done only if a surgery (apart from intercostals drainage) is contemplated.
4. Pleural fluid examination: Should be done to do a gram staining and culture and sensitivity.
Routinely, biochemical examination is not required.
MANAGEMENT
1. Antimicrobial therapy: Empirically the patient is started on intravenous cloxacillin (50 mg/
kg/dose, Q6H) along with an aminoglycoside and benzyl penicillin (1 Lac units/kg/dose,
Q6H). The further treatment depends on the sensitivity pattern and clinical response. The
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IV antibiotics are continued till the fever subsides, respiratory distress improves and the
pleural drainage becomes non-purulent.
2. Intercostal Chest drainage (ICD): A wide bore chest tube should be inserted to drain the
fluid. Thoracocentesis (needle aspiration) has no therapeutic role in managing empyema. At
times, more than one ICD needs to be done because of loculations or BPF.
3. Surgery: Decortication is the most popular mode of surgery that is done throughout the
world. It is supposed to give an opportunity for the lung to expand, to do pleural toilet and
to tackle BPF. Another mode of surgery is Video Assisted Thoracoscopic Surgery (VATS).
While it is applicable for the fibrinopurulent stage, its exact status in the management of ET
is yet to be defined.
4. Fibrinolytic agents (urokinase, streptokinase): Though studied more extensively, the cost
factor and inability to use them with hypersensitive patients and BPF has limited their use.
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22. Imaji R, Dewan PA: The clinical and radiological findings in boys with endoscopically severe congenital
posterior urethral obstruction. BJU Int 2001; 88(3): 263-7.
23. Parag P, Sen S, Chacko J, Zachariah N, Thomas G, Mammen KE. Bilateral high loop ureterostomy in the
primary management of posterior urethral valves in a developing country. Pediatr Surg Int. 2001; 17(23):157-9.
24. Tanagho EA: Urinary obstruction and stasis. In: Tanagho EA, McAninch JW eds. General urology 14th ed.
Appleton and Lange, Norwalk, 177-85.
25. Pena A: Management of anorectal malformations during the newborn period. World J Surg 1993; 17(3):
385-92.
26. deVries PA, Pena A: Posterior sagittal anorectoplasty. J Pediatr Surg 1982; 17(5): 638-43.
27. Shaul DB, Harrison EA: Classification of anorectal malformationsinitial approach, diagnostic tests, and
colostomy. Semin Pediatr Surg 1997; 6(4): 187-95.
28. Bangroo AK, Chauhan Smita. Hair tourniquet syndrome. Journal of Indian Association of Pediatric Surgeons.
2005; 10(1): 55-56.
29. R Scott Strahlman. Toe Tourniquet Syndrome in Association With Maternal Hair Loss. PEDIATRICS
2003;111(3): 685-87.
30. Flamant F, Rodary C, Rey A, et al: Treatment of non-metastatic rhabdomyosarcomas in childhood and
adolescence. Results of the second study of the International Society of Paediatric Oncology: MMT84.
Eur J Cancer 1998; 34(7): 1050-62.
31. Pappo AS, Shapiro DN, Crist WM, Maurer HM: Biology and therapy of pediatric rhabdomyosarcoma. J
Clin Oncol 1995; 13(8): 2123-39.
32. Mazzoleni S, Bisogno G, Garaventa A, et al: Outcomes and prognostic factors after recurrence in children
and adolescents with her nonmetastatic rhabdomyosarcoma. Cancer 2005; 104(1):183-90.
33. James A, ONeill. Conjoined Twins. Pediatric Surgery, V edn. Ed. ONeill et al. Mosby 1998; 1925-38.
34. Kharat A, Karamchandani A, Singh A, Shetty SS. Antenatal ultrasound appearance of dithoracic paraphagus
conjoint twins. Ind J Radiol Imag 2004; 14:2:159-60.
35. Catherine A. Kingston, Kieran McHugh, Jeevan Kumaradevan, Edward M. Kiely, Lewis Spitz. Imaging in
the Preoperative Assessment of Conjoined Twins. Radiographics 2001; 21:1187-1208.
36. Ayhan zkur, Mehmet Karaca, Ahmet Gmen, Metin Bayram. Cephalopagus conjoined twins presented
with encephalocele: diagnostic role of ultrafast MR imaging Diagnostic and Interventional Radiology. 2006;
12(2):090-092.
37. Bumsted RM: Cleft lip and palate, in Cummings CJ, et al, eds. Otolaryngology-Head and Neck Surgery, St.
Louis, Mosby and Co., 1986; 1129-67.
38. Bagatin M: Submucous cleft palate. J Maxillofac Surg 1985; 3:37-38.
39. Mandell DL: Head and neck anomalies related to the branchial apparatus. Otolaryngol Clin North Am
2000;33(6): 1309-32.
40. Currie AR, King WW, Vlantis AC, Li AK: Pitfalls in the management of preauricular sinuses. Br J Surg
1996;83(12):1722-4.
41. Farrugia MK, Morgan AS, McHugh K, Kiely EM: Neonatal gastrointestinal perforation. Archives of
Disease in Childhood Fetal and Neonatal Edition 2003;88:F75.
42. Shah RS, Patel MP, Pikale HS, Kulkarni BK, Borwankar SS: Benign neonatal pneumoperitoneuman
enigma. J Postgrad Med [serial online] 1992.
43. Frank JD, Brown S: Thermometers and rectal perforations in the neonate. Arch Dis Child 1978;53:824.
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44. Academy of Pediatrics. Committee on Quality Improvement. Subcommittee on UTI: Practice parameter:
the diagnosis, treatment, and evaluation of the initial urinary tract infection in febrile infants and young
children. Pediatrics 1999 Apr;103(4 Pt 1):843-52.
45. Horowitz M, Glassberg KI: Vesicoureteral reflux. In: ODonnell B, Koff SA. eds. Pediatric Urology 3rd ed.
Butterworth-Heinemann: 1997.
46. Baranwal AK, Singh M, Marwaha RK, Kumar L. Empyema thoracis: A 10-year comparative review of
hospitalised children from south Asia. Archives of Disease in Childhood 2003;88:1009-14.
47. Mishra OP, Varshney K, Usha, Ali Z, Nath G, Pathak VK, Das BK. Immune Status with Empyema
Thoracis. Indian J Pediatr 2004;71:301-05.
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Streptococcus pneumoniae PEDIATRICS 1998;101(3):388-92.
49. Davies CWH, Gleeson FV, Davies RJO. BTS guidelines for the management of pleural infection Thorax
2003;58:ii18.
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Bone Disorders
RICKETS (Figs 6.1A to C, 6.2 and 6.3)

DEFINITION
Rickets, derived from the old English word wrickkens, meaning to twist. Rickets is a disease
of growing bones especially its cartilaginous epiphyseal growth plate. It is only seen in children.
Undermineralization in adulthood leads to osteomalacia.
CAUSES
The classical rickets is due to vitamin D deficiency; associated with lack of sunshine, skin
pigmentation or poor diet.
Secondary rickets may occur in:
Chronic liver disease when there is impairment of 25 hydroxylation of vitamin D.
Chronic renal diseases, when the 1- hydroxylation of 25(OH) D to 1.25(OH) is defective.
During recovery from malabsorption.
Anticonvulsant drugs especially phenytoin. They degrade vitamin D to less active metabolites.
Vitamin D resistant rickets (Familial hypophosphatemic rickets). It is an X-linked dominant
condition. There is defect in renal tubular transport of phosphate.
Renal tubular function disorders like RTA, Fanconis syndrome and cystinosis.
PATHOPHYSIOLOGY
The main antirachitic action of vitamin D is facilitation of intestinal absorption of calcium
and phosphorous and of reabsorption of phosphorous in the kidney and a direct effect on
mineral metabolism of bone.
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To facilitate adequate mineralization of bones extracellular levels of calcium and phosphorous

is maintained by vitamin D PTH (parathormone)- endocrine axis.
The normal critical product of serum Ca X PO4 is 40, rickets occurs when above product
is less than 30.
CLINICAL FEATURES
Misery
Failure to thrive/short stature
Frontal bossing
Craniotabes (ping pong sensation)
Bowlegs most common
Prominent wrist (excessive accumulation of osteoid).
Marfans sign positive (impression of double malleolus).
Ricketic rosary and Harrisons sulcus, knock knee
Hypotonia and seizures.
Figs 6.1A to C: (A) Ricketic beading (enlargement of costochondral junction). (B) An infant 6-month old having
physiological bowing, it has to be differentiated from NR which exhibit Marfans sign over ankle. This patient has
normal serum alkaline phosphatase level. (C) Same child at age of four year. Note bowing disappeared
LABORATORY INVESTIGATION
Serum calcium is low normal (normal 8.0-10.5 mg/dl)
Serum phosphate is low (normal 3.8-6.0 mg/dl).
Serum alkaline phosphatase level is elevated (over 400IU/L). Normally, growing child has
high level of alkaline phosphatase.
Renal function test
X-ray of the wrist shows widening, cupping fraying, osteopenia. The most important finding
is the increased space between the epiphysis and the provisional zone of calcification. In
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Fig. 6.2: X-ray wrist joint showing cupping

and fraying of distal radius and ulna.
The prominent wrist is due to excessive
accumulation of osteoid
139
Fig. 6.3: X-ray wrist joint after a week of

vitamin D dose. Preparatory zone of
calcification is seen, an indirect evidence
of healing nutritional rickets
severe cases additional deformities of the bones are seen, like bowing of legs seen in lower
limb, thoracic kyphosis with a pigeon chest, enlargement of anterior ribs causing ricketic
rosary and bossing of skull.
TREATMENT
Strosstherapy (single large dose of vitamin D).- a total of 6 lakh IU of ergocalciferol or
cholecalciferol is given by mouth in six divided doses every 2 hours. This therapy helps to
differentiate NR from familial hypophosphatemic rickets (FHR). Patient with NR shows a
rise in serum PO4 in 4 to 7 days and radiographic evidence of healing of rickets in 710
days.
Calcium supplementation 500 mg to 1000 mg of elemental calcium given orally till serum
calcium normalizes
Maintenance doses of vitamin D (400) IU is started after 12 weeks.
Sign of recovery is assessed by serum alkaline phosphatase level and X-ray after one month.
The level should fall after a month but it takes several months for normalization.
SCURVY (Figs 6.4A to D)

Scurvy is a deficiency disease that results from lack of vitamin C, which is required for
correct collagen synthesis in humans. The scientific name of vitamin C, ascorbic acid, is
derived from the latin name of scurvy, scorbutus.
In infants, scurvy is sometimes referred to as Barlows disease, named after Sir Thomas
Barlow (18451945), a British physician who described it. Scurvy is also known as Moellers
disease and Cheadles disease.
Pathophysiology: Vitamin C is functionally most relevant for collagen synthesis, and a
vitamin C deficiency results in impaired collagen synthesis. Defective collagen synthesis
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Figs 6.4A to D: (A) A five-year-old boy, a case of spastic cerebral palsy presented with frank manifestation of
scurvy. With swollen knee joints and spongy gums. The examination revealed classical scorbutic beading over
costochondral junction. (B and C) The X-ray elbow, leg and knee joint revealed classical radiological changes.
Patient responded well will oral ascorbic acid. (D) A 1-year-old, male child came to Pediatric clinic with complaints
of anorexia and crying on being handled. The childs bones were tender and he was reluctant to move his limbs.
He used to keep the limbs in frog like posture. The child also had evidence of gum bleeds. The X-ray of Knee joint
showed characteristic features of Scurvy. The child was treated with Ascorbic acid 300 mg per day and the
child responded in 6-7 days. (Courtesy: Dr Siddhartha Sethi, Dr Sumer Sethi, UCMS, Medical College, Delhi)
leads to defective dentine formation, hemorrhaging into the gums, and loss of teeth.
Hemorrhaging is a hallmark feature of scurvy and can occur in any organ. Hair follicles are
one of the common sites of cutaneous bleeding. Bone involvement is typical for infantile
scurvy. The bony changes occur at the junction between the end of the diaphysis and
growth cartilage. Osteoblasts fail to form osteoid (bone matrix), resulting in cessation of
endochondral bone formation.
Clinical manifestation:
Scurvy can be seen at any age, majority between 6 and 24 month age, but quite rare in
newborn period.
There is vague symptoms of irritability, tachypnea, digestive disturbance, and loss of
appetite. There is evidence of general tenderness; especially noticeable in the legs when
the infant is picked up or when the diaper is changed.
The pain results in pseudoparalysis, and the leg assumes the typical frog like position, in
which the hips and knees are semiflexed with the feet rotated outward. In some cases
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subperiosteal hemorrhage is palpable at lower end of femur. The child look very
apprehensive.
There is bluish, purple swelling of mucous membrane over upper incisor.
A rosary at the costochondral junction is seen and a depression at sternum may be
noticed.
Other features includes Malena, orbital and subdural hemorrhage, delayed wound healing.
Radiological manifestation: The changes are noted in distal end of femur, tibia and fibula,
radius and ulna, humerus and sternal end of ribs. The imaging features seen are as follows.1
Bone assumes a ground glass appearance with pencil thin cortex.
Osteoporosis.
Ring of increased density around epiphysis (Wimbergers sign).
End of long bones show increased density of provisional zone of calcification. (White
line of Frankel).
Metaphyseal spurs or marginal fractures. (Pelkan spur).
Transverse band of radiolucency in the metaphysis sub adjacent to the zone of proximal
calcification. (Trummerfeld zone) .
These changes improve with treatment.
Differential diagnosis is considered out of causes of tenderness of limb and pseudoparalysis.
TreatmentDaily administration of 3-4 oz of orange juice or tomato juice quickly produces
healing. The daily therapeutic dose is 100200 mg orally or parentally.
OSTEOGENESIS IMPERFECTA (OI) (Figs 6.5A to E)

SYNONYMS
van der Hoeves syndrome, trias fragilis osseum, Eddowes syndrome, osteopathyrosis idiopathica
of lobstein, and Ekman-Lobstein disease.
DEFINITION
Osteogenesis imperfecta is a heterogeneous group of collagen disorders characterized by
bone fragility, blue sclerae, and dentinogenesis imperfecta.
Incidence: The overall incidence is 1 in 28,500 live births. OI type II have incidence of 1 in
54,000 birth.
Etiology: OI is heterogeneous disorder of production, secretion, or function of collagen.
CLINICAL TYPES
OI Type I: It has autosomal inheritance pattern. Patients have blue sclera, increased bone
fragility and deafness. Infants have normal birth weight and do not have multiple fractures.
It is again divided into Type A and Type B depending on presence or absence of dentinogenesis
imperfecta.
OI Type II: It is lethal variety of OI. Infants are still born or die in the neonatal period.
Multiple fractures occur in utero. Long bones are shortened, broad and crumpled. Thorax is
short but not narrowed. Skull poorly ossified and blue sclera is present. This type is divided
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E
Figs 6.5A to E: Osteogenesis imperfecta. (A) Note the fracture segments obvious in both lower limbs. (B) X-ray
whole body of newborn depicting multiple fractures of both upper and lower limb. (C) X-ray of left upper arm at
the age of one month depicting fracture of humerus with callus formation. (D) X-ray of the same patient at the age
of one year depicting healed fracture with callus formation (E) A patient aged 12-year with blue sclera since birth
into three subtypes depending on radiological variant. First subtype is characterized by

short, broad crumpled long bones, angulations of tibiae and beaded ribs, the second subtype
by broad crumpled femora but minimal or no rib fractures and the third by narrow fractured
femora and thin beaded ribs. OI type II has been claimed to be autosomal recessive
occasionally new mutation of dominant gene has also been reported.
OI Type III: Patient has blue sclera at birth but in later life it is pale and white. Long bones
are shortened and bowed with multiple fractures are present from birth in most cases. The
disease is characterized by progressive deformity of the long bones and spine. It is transmitted
as autosomal recessive and dominant both.
OI Type IV: It is the mild form of disease. Patient scleras are blue at birth but become white
in later life. Tubular bones are normal but mild femoral bowing may occur.
Antenatal diagnosis: OI type II has been reported to be better diagnosed by antenatal
ultrasound, especially before 20 weeks gestation. Fractures of long bones, angulations,
shortenings, localized thickenings secondary to callous formation. These finding are more
evident on femur.
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Obstetrical management: Termination of pregnancy is advised for type II OI. For other
types decision of termination of pregnancy is offered before viability. After viability,
consideration is given to type of delivery. LSCS is preferred mode of delivery in these cases.
MANAGEMENT
There is no effective drug treatment.
Physiotherapy is important. Exercise should be encouraged because increased muscle mass
reduces the chances of fracture. Swimming is helpful for all cases.
Braces and splints are required in severe cases to aid ambulation. As soon as callous is
formed patient mobilization of patient is encouraged.
Surgery in the form of intramedullary rod fixation is used for lower limb fractures to straighten
the deformity and to reduce the recurrent fractures. In upper limb deformity is computable
with good function.
Deafness is frequently conductive and ossicular reconstruction and stapedectomy can help.
Hearing aid should also be considered.
Adequate dental care should be imparted for dentinogenesis imperfecta.
Genetic counseling is complicated and important and depends upon type of OI.
CONGENITAL CLUB FOOT (Figs 6.6A to E)
Figs 6.6A to E: Congenital clubfoot. (A) Bilateral (B) Unilateral (C) Unilateral mild
(D) Unilateral severe. (E) Club hand left. Photographs courtesy: Dr Ramesh Bhatt, KMC, Manipal
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Probability of club foot is approximately 1 in 1000 births.

Deformity occurs more commonly in males and bilateral (Fig. 6.6A) in 50% of cases.
Examination demonstrates hind foot equinus, hind foot and mid foot varus, forefoot adduction,
and variable rigidity. These deformities are secondary to medial dislocation of the talonavicular
joint.
Treatment involves taping, serial plaster casts and surgery.
Club hand (Fig. 6.6E): It is due to absence of radius on the affected side. This abnormality
was seen in a newborn with Townes-Brock syndrome.
DIGITAL ABNORMALITIES
Digital abnormalities consist of following abnormalities.
1. Polydactyly
2. Syndactyly
3. Symphalangism
4. Brachydactyly
5. Ectrodactyly.
These terms pertain to anatomical abnormalities rather than any specific disorder.
POLYDACTYLY (Figs 6.7A, B and 6.8A to C)
Presence of extra digit is termed as Polydactyly. There are two varities of polydactyly.
Preaxial polydactyly: Here the thumb and great toe are duplicated.
Postaxial polydactyly: Here the fifth finger and the fifth toe is duplicated.
Polysyndactyly is the term used for fusion of digits along with duplication.
The incidence noted in study from Turkey for polydactyly is 2.6 per thousand.2
The pathogenesis of polydactyly is linked to disordered interaction between the limb ectoderm
and mesoderm.3
B
Figs 6.7A and B: (A) Duplication of little finger postaxial polysyndactyly
(B) Postaxial polysyndactyly of both hands
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Preaxial polydactyly: Unilateral extra thumb or hallux is usually nongenetic. But there are
several autosomal dominant forms of uncomplicated, bilateral, preaxial digital duplication.
Postaxial polydactyly: It is more common than preaxial one.
The reasons of high prevalence are not known but it has been suggested that inheritance
is autosomal dominant, with variable expression.
Postaxial polydactyly is a component of various lethal condition such as trisomy 13,
asphyxiating thoracic dystrophy, and Saldino Noonan syndrome. It is also a feature of
chondro-ectodermal dysplasia.
It is also seen in Bardet-Biedle syndrome where it is associated with mental retardation,
retinitis pigmentosa, and hypogonadism. It is distinguished from Laurance-Moon
syndrome in which digits are normal.
Figs 6.8A to C: (A) Preaxial polydactyl there is duplication of both great toes along with postaxial polysyndactyly
of both hands (B) Preaxial polydactyly of great toes (C) Syndactyly of third and fourth fingers
SYNDACTYLY (Fig. 6.8C)

The term syndactyly pertains to bone or soft tissue fusion of two or more digits.
In severe forms bone fusion of adjacent digits may be complete, while mild type minimal
skin webbing at the digital roots is the only abnormalities.
It is a component of several genetic syndrome. It may exists in isolation, either as genetic or
nongenetic entity.
It is noted in general, that the genetic forms are bilateral and family symmetrical, while the
nongenetic varities are unilateral.
Unilateral synbrachydactyly is seen in Poland anomaly.
BRACHYDACTYLY (Figs 6.9A and B)

The term brachydactyly pertains to shortening of a single or multiple digits, due to bone
maldevelopment. There are many type of brachydactyly most of them are components of
syndromes.
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Figs 6.9A and B: (A) Brachysyndactyly present over both feet. (B) Brachydactyly of both third toe
ECTRODACTYLY (LOBSTER-CLAW DEFECT) (Figs 6.10A to C)

DEFINITION
The term ectrodactyly, which has Greek connotation of aborted finger, is used loosely to
include abnormalities of this type. There is maldevelopment of central rays of the limb buds
may produces longitudinal splitting of the finger.
GENETICS
It may be sporadic or inherited as an autosomal dominant. Expression is very variable and
skipped generations are not uncommon. There is uncommon autosomal recessive form of
ectrodactyly.4
In view of existence of sporadic, dominant and recessive forms of the Lobster-Claw defect,
there is considerable heterogeneity; genetic counseling can be very difficult.5
Figs 6.10A to C: Split hand and feet. (A) (B) Autosomal dominant family with split hand and feet, note mother and
two kindred are the sufferer. (C) Sporadic split hand and feet, no family history of such defect in family
EEC (Ectrodactyly-Ectodermal Dysplasia-clefting) Syndrome

The limb abnormality consists of clefting of hand and feet along with anodontia, sparse hairs,
eye lashes and brows are absent, hypohiderosis is variable.
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Bone Disorders
MULTIPLE CARTILAGINOUS EXOSTOSIS (Figs 6.11A to C)

Synonym: Hereditary multiple exostosis, diaphyseal aclasis.
It is a hereditary disease with autosomal dominant transmission.
It is characterized by multiple osteocartilaginous tumors at the metaphysis of long and short
tubular bones and at the sites of enchondral growth in the flat bones.
Most frequent site is distal femur, proximal femur and distal forearm in that sequence.
The bony projections take origin from the ends of the shaft near the cartilage-shaft junctions.
Their longitudinal axes are almost invariably directed away from the nearest joint. The
epiphyseal ossification centers are normal.
Exostosis can occurs at any time from birth to the end of the growth period.
Treatment: Excision.
Figs 6.11A to C: Multiple cartilaginous exostosis. (A) Note cartilaginous outgrowth at lower and upper end of
tibia. (B) Cartilaginous growth at lower end of radius. (C) X-ray of knee joint AP and Lateral view. Note the
outgrowth from the lower end of femur and upper end of tibia
GREENSTICK FRACTURE (Figs 6.12A and B)

Skeletal injuries account for 10 to 15 percent of all injuries in children, and 15 percent of
these affects the growth plate. Do not avoid the possibility of child abuse in such injuries.
Greenstick fracture in most common and usually involves the diaphysis and it occurs when
an angulated force breaks one but not both sides of the cortex.
Obtain a complete history including the mechanism of injury, location of maximum pain.
See for pain and tenderness as well as the joint above and below. Do not afford to miss the
neurovascular status of the limb. The presence of any of the Six Ps) pain, pulseness,
pallor, paralysis and painful passive motion) distal to fracture site suggests neurovascular
compromise.
Advise for AP and lateral X-ray and carefully follow the cortex for discontinuity.
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Figs 6.12A and B: Greenstick fracture. (A) Note the deformity of upper limb.
(B) X-ray forearm depicting greenstick fracture of ulna
CONGENITAL SCOLIOSIS (Figs 6.13A to D)

Scoliosis is defined as the presence of one or more lateral- rotatory curvature of the spine of
over 10 by Cobbs measurement. It is generally described in relation to the direction of the
convexity of the curve and is considered flexible if it corrects on bending towards convexity,
and structural if it is relatively rigid.
Congenital scoliosis is frequently associated with anomalous vertebrae, occult intraspinal
anomalies and associated genitourinary and cardiac defect.
A MRI spine has to be performed in-patient with progressive congenital scoliosis or those
requiring surgical intervention. There are 30 to 40 percent chances of having intraspinal
deformity e.g. tethered cord, intraspinal lipoma, syrinx and diastematomyelia.
Figs 6.13A to D: Congenital scoliosis- (A) (B) Note the gibbous in-3-year-old boy, note the convexity of the
lower thoracic spine to the right side along with hemivertebrae. (C) (D) Note the spinal deformity clinically and
its radiological correlate
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Radiographic examination for scoliosis generally includes a standing posterior-anterior film

of the entire spine from the cervical level to the sacrum including both iliac crests, and a
lateral film of the same area of the spine.
Scoliosis is associated with congenital heart disease more with cyanotic heart disease than
with acynotic. In addition higher incidence of coarctation of aorta is also seen with scoliosis.
REFERENCES
1. Bhushan N Lashkar, Chandrakant M Shetty. Concise radiology for undergraduate, first edition, 2006;
Scurvy, 123.
2. Tuncbilek. E and Say, B. Polydactyly in turkey. In fifth international congress of human genetics 1976.
3. Yasuda M. Pathogenesis of preaxial polydactyly of the hand in human embryos. Journal of embryology
and experimental morphology, 1975;33(3):745.
4. Mackenzie HJ and Penrose LS. Two pedigree of ectrodactyly. Clinical Genetics, 1951;9:347.
5. Verma IC, Joseph R, Bhargawa S, Mehta S. Slit hand and foot deformity inherited as autosomal recessive
trait. Clinical Genetics 1976;9(1):8.
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Chapter
Neurology
NEUROCUTANEOUS SYNDROME
Phakomatosis is a heterogenous group of disorder generally have neurological and cutaneous
manifestations. Most of them also have visceral and connective tissue abnormalities. Disorders
are autosomal dominant like Tuberous sclerosis, Neurofibromatosis and Hypomelanosis of Ito,
or spordic like Sturge-Weber syndrome, Neurocutaneous Melanosis and Parry-Romberg
syndrome.
COMMON NEUROCUTANEOUS SYNDROMES
Neurofibromatosis
Tuberous Sclerosis. (Bourneville disease)
Sturge-Weber syndrome.
von Hippel-Lindau syndrome
RARE NEUROCUTANEOUS SYNDROMES
Ataxia Telangiectasia
Wyburn- Mason
Rendu-Osler-Weber
Klippel-Trenaunay-Weber
Meningioangiometosis
Neurocutaneous melanosis
Epidermal Nevus syndrome
Basal Cell Nevus syndrome
Miscellaneous
Melanocyte Phakomatosis
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Neurology
Cowden disease.
Progressive Hemifacial Atrophy (Parry-Romberg syndrome)
Cutis Verticis Gyrata
Waardenburg syndrome.
NEUROFIBROMATOSIS
Neurofibromatosis is not a single entity, but it is a group of heterogenous diseases. Several
variants of neurofibromatosis has been proposed, to date National Institute of Health (NIH)
Consensus Development Conference has defined only two distinct type. Type I is known for
florid skin manifestations while type II is almost synonymous with bilateral acoustic neuroma.
NEUROFIBROMATOSIS TYPE I (NF-1) (Figs 7.1 A to E)
The main features of this disorder are cutaneous pigmented lesions and multiple tumors arising
from element of peripheral and central nervous system due to dysgenesis of primitive ectoderm.
Figs 7.1A to E: Neurofibromatosis Type I. (A) Plexiform Neurofibromatosis involving trigeminal nerve (B) Plexiform
neurofibroma of left upper limb. (C) Cafe au lait patches on back. Neurofibromatosis Type I. (D) Skeletal deformity
in Neurofibromatosis (Angular scoliosis) (E) Subcutaneous nodules
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INCIDENCE AND INHERITANCE

Most common and represents 90 percent of all NF. Incidence being 2000 to 3000 live birth.
Inheritance is autosomal dominant with high penetration and variable expression. Localization is
on the long arm of chromosome number 17. This locus is known for high mutation.
DIAGNOSTIC CRITERIA
Two or more of the following:
Six or more cafe-au-lait spots.
1.5 cm or larger in postpubertal individual.
0. 5 cm or larger in prepubertal individual.
One plexiform neurofibroma or two or more neurofibroma of any type.
Two or more pigmented iris hamartoma (Lisch Nodule).
Axillary and inguinal freckling.
Optic nerve Glioma.
First degree relative with NF1.
Bony lesions, e.g. dysplasia of greater wing of sphenoid, pseudoarthrosis.
Many somatic manifestation of NF1 are age related, external stigmata may be subtle or
absent in very young children. Cutaneous lesions and tumor at all sites generally increase in size
and number with increasing age.
Learning disability, psychological disturbances, hydrocephalus with aqueductal stenosis,
hypertension secondary to renal artery stenosis and other vascular abnormalities like aneurysm
and moya-moya like features are discribed with NF1.
NEUROFIBROMATOSIS TYPE II (Figs 7.2A and B)

Neurofibromatosis type 2 also known as NF2 or Bilateral acoustic schwannomas is a distinct
form of disease that must be separated clinically and radiographically from type 1 NF.
Incidence and InheritanceIt is an autosomal dominant disorder the chromosomal defect
has been localized on 22. NF 2 is much less common with incidence of approximately one
in 50,000 live birth.
Figs 7.2A and B: Neurofibromatosis Type II. (A) MRI image, bilateral acoustic neuroma.
(B) CT scan. bilateral acoustic neuroma
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DIAGNOSTIC CRITERIA
i. Bilateral 8th nerve masses.

ii. Parents sibling, or child with NF2 and either unilateral 8th nerve mass or any one of the
following:
Neurofibroma
Meningioma
Glioma
Schwannoma
Posterior capsular cataract or opacity at young age
TUBEROUS SCLEROSIS (Figs 7.3A to F)

One of the most common neurocutaneous disorder seen in clinical practice.This was first
recognized by Bourneville (1880).
INCIDENCE AND INHERITANCE
It is also an autosomal dominant disorder with variable expression and high penetrance . TS has
an approximate incidence of 1:10,000 to 50,000. A gene locus on the 9q32-34 region has been
found for approx of 1/3rd of families.
Figs 7.3A to F: Tuberous sclerosis. (A) (B) Adenoma Sebaceum. Tuberous sclerosis (C) Hypomelanotic
Macule. (D) Shagreen Patch. Tuberous sclerosis. (E) Subependymal Calcified Nodules. (F) Subependymal
Calcified Nodules
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NEUROLOGICAL FEATURES
Mental retardation and epilepsy are cardinal symptoms. Infantile spasm may be the earliest
manifestation, EEG reveals classical hypsarrhythmia.
Psychiatric manifestation: Hunt and Dennis (1987) in series of 90 cases reported psychotic
behavior, hyperkinetic, aggressive mode and autistic feature in children affected with TS.
Raised ICT due to blockade of CSF flow by tuber. Rarely neoplastic transformation of long
standing benign nodule into an astrocytoma or glioblastoma.
Congenital brain tumor cortical tuber and subependymal nodules were found at autopsy in
an infant of 28 weeks. The antenatal diagnosis of TS has been made in two 33 weeks
fetuses in which MRI reveals multiple subependymal nodule and cortical tuber.
Fundus examination shows retinal phakomas, a raised, mushroom like lesion present near
the optic disc. They often develop very early. Lesions are usually asymptomatic.
CUTANEOUS MENIFESTATIONS
Adenoma sebaceum: It is a papular, acneiform rash over butterfly area of the face. It is
rarely detectable below 2 yr age. It was present in 53 percent of cases by age of 5 yr and in
100 percent by 35 yr in one series.
Amelanotic naevi: These are earliest skin manifestation, which are diagnostic and present
since birth. These are amelanocytic, pale ash leaf shaped, hypopigmented macule, varying
sizes 3-60 mm, seen over trunk and limbs histologically the naevi contains melanocyte but
there is no production of melanin, suggesting metabolic block.
Shagreens patch: irregular rough area of skin often seen over lumbar area.
Periungual fibroma: Fleshy out growth on finger and toes.
Poliosis (lock of pale hair), enamel pits.
VISCERAL ABNORMALITY
Renal: Polycystic kidneys, adenoma, fibroma, lipoma, angioma, teratoma.
Cardiac: RhabdomyomaIt is reported that 80 percent of children with cardiac rhabdomyoma
will have TS.
IMAGING
CT scan and MRI will pick up most of the intracranial lesion. X-ray skull rarely shows
Intracranial calcification. Abdominal USG to pickup renal cyst and echocardiography to
locate rhabdomyoma, are other investigations required.
MANAGEMENT
The following evaluations are recommended in children.
Renal ultrasonography every 1 to 3 years followed by renal CT/MRI if large or numerous
renal tumors are detected.
Cranial CT/MRI every 1-3 year.
Echo evaluation of heart to pickup rhabdomyoma of heart.
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Antiepileptic drugs are helpful in reducing the seizure frequency, but rarely provide complete
relief. The drug Vigabatrin has better spectrum to keep seizure under control in patient with
TS. Visual field defect is major side effect with this drug, which has to be monitored.
Genetic counseling is important in explaining the course and progression of the disease in
progenies.
STURGE-WEBER SYNDROME (Fig. 7.4)

Reported in 1879 by Sturge-Weber described encephalofacial angiomatosis.
INHERITANCE
It is usually sporadic, but dominant and recessive nature are also known and rare.
Convulsions usually begin in first year of life, often in newborn period, seldom later than
two years of age. Fits are abrupt and of catastrophic nature, Initially fits are partial contralateral
to nevus later become generalized and often lead to status epilepticus.
Mental retardation and hemiplegia worsens with each bout of seizure.
CUTANEOUS FEATURES
Nevus is always congenital. Affects the upper
part of face, its distribution corresponds to first
and second division of trigeminal nerve. Nevus
is mostly unilateral and flat-red in appearance,
known as portwine stain.
Facial nevus may be present without features of
SWS. On the other hand, rare cases are reported
with typical radiological and neurological features
of the syndrome but without nevus called as
SWS sine nevus.
Fig. 7.4: Sturge-Weber syndrome

facial nevus (portwine stain)
OPHTHALMOLOGICAL FEATURES
Raised intraocular tension is found in one third of SWS with buphthaloms.

Episcleral hemangioma was found in all patient with SWS with glaucoma.
Homonymous hemianopic field defect are known.
Rarely retinitis pigmentosa is also reported with SWS.
IMAGING
X-ray of skull reveals pathognomic feature of intracranial calcification with double contour,
like a railway line.
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CT scan will reveal occipitoparietal calcification. Calcification is usually on the outer part of
cortex. It is unilateral on the side of the nevus. Rare cases have been reported with bilateral
calcification some time with bilateral nevus. Atrophy of affected hemisphere often developed.
Microcephaly has been reported in some cases.
MRI ranks superior to CT because it detect white matter changes and extent of the lobar
involvement with degree of cortical atrophy. PET scans are used for better functional imaging.
Carotid arteriography reveals slowing of circulation in angiomatous vessel.
MANAGEMENT
Multiple antiepileptic drugs are usually required to control seizure.
Surgical: The hemispherectomy has been tried in selected cases with refractory seizures.
Hoffmans reviewed the result of hemispherectomy in seven children, 6 of them under
11 month of age followed up for 1-13 yrs. 4 had excellent results, two were rendered
hemiparetic and one died of recurrent hemorrhage.
Flash lamp pulsed laser therapy gives good cosmetic result in portwine stain. Pulsed dye
laser now seems good in children for the management for raised intraocular tension and
buphthalmos.
ATAXIA TELANGIECTASIA (Fig. 7.5)

Ataxia telangiectasia is rare autosomal recessive disorder with clinical feature of progressive
cerebellar ataxia, oculocutaneous telangiectasia, chronic sino-pulmonary disease and high
incidence of malignancy. The basic defect is in DNA metabolism and repair. The condition is
associated with variable immunodeficiency state.
Ataxia becomes evident in early childhood and
progress till the age of 10 to 12 years. Occulomotor
apraxia, hypotonia, diminished reflexes, generalized
muscular weakness become obvious late.
OPHTHALMOLOGICAL FEATURES
Conjuctival telangiectasis appeared between 3rd and
4th year of age, sometime confused with angular
conjunctivits.
Fig. 7.5: Ataxia telangiectasia.Note right

temporal bulbar telangiectasia
CUTANEOUS FEATURES
Cutaneous telangiectasia observed later in course of illness. Premature aging of skin and hair,
recurrent skin infection are other reported features.
Recurrent pulmonary infection and malignancy are two common causes of death. Low
level of IgA and IgE with high levels of IgM, serum alphafetoprotien and Carcino-embryonic
antigen are supportive to the diagnosis of ataxia telangiectasia.
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PARRY-ROMBERG SYNDROME (Fig. 7.6)

Parry-Romberg syndrome is a rare disorder characterized
by slowly progressive hemifacial atrophy, distinctive changes
of the eyes and hair. Symptoms and physical findings usually
become apparent during the first or second decade of life. In
rare cases, the disorder is apparent at birth. In most cases,
Parry-Romberg syndrome appears to occur sporadically.
Neurological Features
Episodes of uncontrolled seizures, trigeminal neuralgia and
migraine like headaches.
Fig. 7.6: Parry-Romberg syndrome.

Left facial atrophy with hyperpigmentation of forehead
Cutaneous Manifestations
Initial facial changes usually involve the tissues above maxilla or nasolabial fold and progress to
involve the angle of the mouth, the areas around the eye, the brow, the ear, and sometimes
neck. In most cases, progressive tissue wasting is limited to one half of the face, usually the left
side. Affected areas may demonstrate atrophy of subcutaneous tissue and underlying cartilage,
muscle or bone.
In addition, the skin may become hyperpigmented vitiligo is rarely reported. Atrophy of half
of the upper lip and tongue, or wasting of the roots of certain teeth on the affected side also
seen.
In many cases, hair abnormalities may also appear on the affected side including whitening,
bald patches, loss of eyelashes and eyebrow.
MANAGEMENT
In most affected individuals, hemifacial atrophy typically progresses over approximately three
to five years and then ceases. Plastic surgery of the face should be deferred till progression of
facial atrophy.
CUTIS VERTICIS GYRATA (Figs 7.7A and B)

This is a rare disease characterized by convoluted folds over scalp of variable thickness
resembling gyral pattern. Skull shape is also deformed often microcephaly. Neurological features
includes mental retardation, seizures, spasticity, deafness. Ophthalmological abnormalities includes
cataract, strabismus, blindness, retinitis pigmentosa.
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Figs 7.7A and B: Cutis Verticis Gyrata(A) Family with cutis verticis gyrata with care taker.
(B) Vertical skin folds over scalp
KLIPPEL-TRNAUNAY-WEBER SYNDROME (Figs 7.8A to D)

A noninheritable condition. It is charecterized by triad of cutaneous vascular malformation,
bony and soft tissue hypertrophy and venous varicosity.
The anomaly is present at birth and usually involves a lower limb but may involve more than
one and portions of the trunk or face. The vascular lesion most often is a nevus flammeus,
generally localized to the hypertrophied area. Venous blebs and/or vesicular lymphatic lesions
may be present on their surface. Thick-walled venous varicosities typically become apparent
ipsilateral to the vascular malformation after the child begins to ambulate.
Arteriograms, venograms, and CT or MRI scans may delineate the extent of the anomaly,
but surgical correction or palliation is often difficult.
Supportive care includes compression bandages for varicosities, surgical treatment may
help carefully selected patients. Leg length differences should be treated with orthotic devices.
Figs 7.8A to D: Klippel-Trnaunay-Weber syndrome. (A) (B) New born with the vascular nevi and
asymmetrical right limb hypertrophy. (C) (D) New born with hypertrophy nevus over left lower limb
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WAARDENBURG SYNDROME (Figs 7.9A and B)

Autosomal dominant disorder due to defective migration and differentiation of neural crest
cells. It is characterized by heterochromic irises, lateral displacement of medial canthi dystopia
canthorum, broad nasal root, deafness, a white forelock and hypopigmented cutaneous lesion.
B
Figs 7.9A and B: Waardenburg syndrome (A) Unilateral hetrochromia iridae.
(B) Note hetrochromia iridae in a child and his grandmother, there was hearing loss in both
NEUROCYSTICERCOSIS (Figs 7.10A to C)

INTRODUCTION
It is most common parasitic disease of CNS caused by larval form of Taenia solium. When the
cysticercus cysts are present in the brain it is called neurocysticercosis.
It is caused by eating improper cooked pork and also spread by orofecal route. The most
common age of presentation is school age group.
Figs 7.10A to C: (A) White flat ribbon like adult parasite Taenia solium. (B) A boy infested with Taenia solium
has passed adult worm in stool. His parent brought the specimen to us with curiosity (C) CT scan head depicting
single ring enhancing lesion with surrounding edema
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Life cycle: Adult worm is carried in human intestine (definite host). The eggs are excreted
in the faces are ingested by pig (intermediate host). The ingestion of infected uncooked
pork, raw vegetables contaminated with sewage and human excreta causes the larval form
to enter in the human body. The larval form enters the circulation and spread into most of
the tissue. Larva forms the cysts in the CNS, ranges from 4 to 20 mm. It contains transparent
fluid and contains thin, whitish friable membrane. Scolex is visible as invagination of 2 to
3 mm of membrane. There are four stages of the parasite.
Vesicular stageThis is the viable cystic stage with scolex and without inflammatory
reaction around it.
Cysticercus granulomaThe vesicular stage is converted into granuloma after 1-5 years.
It consists of cyst filled with jelly like whitish fluid and is covered by dense fibrous
capsule. The scolex degenerates and forms eccentric mural nodule.
Granulomatous nodular stageIt is small size lesion covered by thick wall with no
scolex.
Calcified stageAll cysts degenerate and calcified later on.
The first three stages represent active form and fourth one inactive form of NCC. Live
cysts and granuloma are symptomatic active while residual calcifications and gliosis are
considered inactive.
Clinical featuresSeizures are the most common presentation of NCC. Almost all type of
seizure are noted in NCC. Raised intracranial pressure, headache, hemiplegia,
meningoencephalitis, learning disability, and psychomotor problems. The youngest child
described was 9 months.
DiagnosisNCC is diagnosed 1. Clinical features. 2. Immunological tests. 3. Cerebrospinal
fluid. 4. Neuroimaging. Serology, CSF studies, stool examination, radiology of leg muscle
and funduscopy are usually not cost effective in children as the parasite load is not high in
children.
Immunological testsNCC is diagnosed by immunological test of serum and CSF. ELISA
for IgM antibodies has sensitivity of 50 percent and specificity of 70 percent in serum
and 87 percent sensitivity and 95 percent specificity in CSF. The enzyme linked
immunoelectrotransfer blot (ELTB) assay is 100 percent specific and 98 percent sensitive
for diagnosis of NCC.
CSF examination shows pleocytosis mostly lymphocytes and eosinophils.
NeuroimagingCT scan and MRI helps in accurate diagnosis of NCC. CT scan pickup
60 to 75 percent cases of NCC. It shows hypodense cystic lesion with eccentric hyper
density indicating scolex, on contrast CT it appears as ring enhancing. Lesions are
mainly at grey-white junctions in parietal, frontal and occipital lobes and are rare in
temporal lobe and the posterior fossa. The tuberculoma, a common differential diagnosis,
on the other hand, is seen more in basal region. MRI pickup early parenchymal cyst and
edema.
Radiological criteria for diagnosis of NCC according to Rajshekhar V1 et al are as follows.
MRI featuresSingle, small well defined lesion less than 20 mm, contrast enhancement,
ring, disc oval lesion, perifocal edema, absence of mass effect, corticomedullary junction
location.
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CT featuresMultiple low-density lesions with or without enhancement, diffuse bilateral

low-density pattern, chinked pattern, calcified lesions, scolex, meningeal obstruction,
obstructive hydrocephalus, up to three lesions, solitary lesions, communicating
hydrocephalus.
Treatment
Cysticidal drugsits use in NCC is controversial. Present consensus in that the intracranial
lesion improves of its own and use of cysticidal drugs probably expedite the natural
course of disease and chance of local scarring and later calcification is increased. Main
indication are said to be cysticercosis meningitis and intracranial hypertension. Drugs
used are Praziquental 50 mg/kg/day in three divided doses for 14 days. Albendazole
15 mg/kg/day for 28 days.
Corticosteroidsis indicated when patient is under cysticidal drugs. It combat the
symptoms caused by parasite death.
Anticonvulsanteither carbamazepine or phenytoin is adequate in controlling the seizures.
The duration to which these drugs are used in still controversial. They are used from 6
to 18 months.
BELLS PALSY (Figs 7.11A and B)

It is the acute idiopathic paralysis of the face caused by dysfunction of facial nerve.
The pathogenesis is supposed to be viral infection possibly herpes simplex there is some
component of postviral immune mediated demyelination.
The incidence is supposed to be 3/100,000 in first decade, 10/100,000 in the second and 25/
100,000 in adults.
Bells palsy is almost unilateral except in one percent cases where it is bilateral.
The facial nerve is predominantly a motor nerve and supplies all the muscles concerned
with facial expression and the stapedius muscle. It has very small sensory component called
the nervus intermedius of Wrisberg. It conveys taste sensation from anterior third of the
tongue and cutaneous impulse from the anterior wall of the external auditory canal.
Figs 7.11A and B: Facial palsy. (A) Left facial palsy. (B) Left facial palsy in a boy note
it becomes obvious while closing the eyes, left half of the face droops
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Clinical features
A history of viral infection and upper URI is seen.
The features of neuritis like pain, tingling in the ear canal in the ipsilateral ear always
precede the palsy.
The half of the face on the affected side sags and enlarges the palpebral fissure.
In an attempt to use the muscle of expression the face is pulled to the normal side. There
is difficulty in eating and drinking, the fluid leaks from the weak corner of the mouth.
Depth of nasolabial fold is reduced on the affected side.
The most common portion of the facial nerve involved is the portion within temporal
bone, which impairs the taste, lacrimation and salivation (due to involvement of chorda
tympanic branch) and induces hyperacusis (due to involvement of nerve to stapedius
muscle).
The muscle remains week for 2 to 4 weeks and then strength returns to normal gradually.
Diagnosis: The diagnosis is mostly clinical but thorough clinical and neurological examination
is needed to rule out other problematic conditions. Patients ear is to be examined for herpetic
vesicles (Ramsay Hunt syndrome).
Imaging is required when facial palsy is in association with other neurological disorder or if
facial palsy persists for more than a month.
Bells palsy has to be differentiated from upper motor neuron lesion of facial nerve. In lower
motor neuron lesion whole half of affected side is paralysed while in upper motor neuron
lesion upper half of the face (forehead) is spared.
Bilateral facial palsy though very rare is seen in Guillian-Barre syndrome, Sarcoidosis and
Melkersson-Rosenthal syndrome later is triad of facial palsy, recurrent facial edema and
plication of tongue.
Managementto maintain the moistness of the cornea artificial tears are used. Protect the
eye while playing by covering. Children with facial palsy do not require corticosteroid as
compared to adults. If at all it is planned to start in older child, hypertension and infection
has to be ruled out.
MARCUS-GUNN PHENOMENON (Figs 7.12A and B)

Marcus-Gunn phenomenon or facial synkinesis means that attempts to move one group of
facial muscle results in contraction of associated muscles. It is usually seen during anomalous
regeneration of the facial nerve. For examples
Opening of jaw may cause closure of the eyelids on the corresponding side (jaw-Winking).
If the fiber originally connected with the muscles of the face later innervate the lacrimal
gland, anomalous secretion of the tears (crocodile tears) may occurs while eating.
If the fiber originally connected with orbicularis oculi innervates the orbicularis oris, closure
of eyelids causes retraction of the mouth.
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Figs 7.12A and B: Marcus-Gunn phenomenon. (A) Demonstration of Marcus-Gunn phenomenon. On an attempt
to move the lower jaw, as in the act of sucking the bottle, the left eyelid is retracting upwards. (B) Note the
retraction of left upper eyelid making the eyeball quite prominent
MYASTHENIA GRAVIS (Figs 7.13 A to D)

The immune mediated myasthenia gravis is seen from late infancy to adult life, though some
congenital forms are also known.
There are two clinical forms seen: Ocular myasthenia, in which the eye muscle is primarily
or exclusively affected but the facial and limb muscle may also be mildly involved, and
generalized myasthenia, in which weakness of bulbar and limb muscles is moderate to
severe.
Clinical features
Ptosis and diplopia are the common presentation in myasthenia gravis. Ptosis may be
unilateral or bilateral.
Children with ocular myasthenia have mild weakness of the face and easy fatigability.
This condition has relapses and remission. At least 20 percent of patient has permanent
remission.
Children with generalized myasthenia have generalized weakness, dysarthria, dysphasia,
and difficulty in chewing and limb fatigability. In this condition remission is rare, Later in
the course of the disease respiratory insufficiency (myasthenic crisis) occurs. There are
Figs 7.13A to D: Myasthenia Gravis: (A) (B) Bilateral ptosis and facial weakness. (C) 8-year-old patient
presented with ptosis which aggravates during the end of the day, (D) Watch the response to inj neostigmine
over the ptosed eyes and facial alertness, this test is also one of the diagnostic for myasthenia gravis
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other autoimmune disorders associated with generalized myasthenia. Thymoma is present

in 15 percent adult cases and in 5 percent in children with generalized myasthenia.
Myasthenic CrisisExacerbation of myasthenia and need for artificial ventilation occurs
in some 10 percent of cases with myasthenia. These patients are to be monitored very
closely.
Investigations
Edrophonium Test (Tensilon test)This test is used to diagnose both forms of myasthenia
gravis. Edrophonium is short acting anticholinesterase given intravenously at a dose of
0.15 mg/kg. Ptosis responds better by edrophonium than ocular motor paralysis.
Vital capacity detecting especially in generalized form.
Chest X-ray, CT or MRI chest to rule out associated thymoma.
Serum acetylcholine receptor antibodies.
Plasma thyroxine to rule out associated thyroid disorders.
Antinuclear antibody, rheumatoid factor, and antithyroid antibodies may be positive.
EMG abnormality includes decremental response to titanic train stimulation at 5-10 Hz
and evidence of neuromuscular blockade is seen on single fiber EMG in the form of jitter
and blocking of motor action potential.
Ossermans Grading of Myasthenia.2 (1)- Myasthenia gravis severity can be graded clinically
by Ossermans grading.
Grade I : Ocular myasthenia.
Grade II: Mild generalised myasthenia with slow progression; no crisis; drug responsive.
Grade III: Acute fulminating myasthenia; rapid progression to severe symptoms of
respiratory crisis and poor drug response; high incidence of thymoma; high mortality
rate.
Grade IV: Late severe myasthenia; same as grade III but takes two years to progress
from class I to II; high mortality rate.
Management
Anticholinesterase therapyNeostigmine in the dose of 0.5 mg/kg every 4 hrly in children
younger that 5 years of age, and .25 mg/kg in older children, not to exceed 15 mg. The
dose is slowly increased to maximum tolerable. Diarrhea and gastrointestinal cramp are
the limiting factors.
Thymectomyif performed early in the course of the disease remission can be achieved
within three years.
Immunosuppressionby steroids, azathioprim, ciclosporin, plasmapheresis and
thymectomy are other forms of treatment.
Avoid Dpenicillamine therapy is avoided as it can precipitate myasthenia so are the
aminoglycosides.
RETT SYNDROME (Figs 7.14A and B)

DEFINITION
Rett syndrome is neurodegenerative disorder occurs only in girls and the prevalence is estimated
to be 1:10,000 to 1: 20,000. A period of normal development followed by loss of developmental
skill and with characteristic hand movement.
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GENETICS
This is caused by mutation in the gene encoding methyl-CpG-binding protein-2. The gene maps
to chromosome Xq28. The precise mechanism of inheritance by which an X-linked disorder
occurs in only female is not yet established.
Figs 7.14A and B: Rett syndrome: (A) Hand wringing and mouthing movements in a girl aged 2 years
(B) Note the stereotype hand washing movement and mouthing in a 1-year-old patient
CLINICAL FEATURES
Affected girls are normal during the first year. Developmental arrest usually begins at
12 months but may appear as early as 5 months but as late as 18 months.
The initial features are deceleration of head growth leading to microcephaly and rapid
developmental regression. It is characterized by loss of language skills, decreased use of
hands, gait ataxia, seizures and autistic behavior.
There is characteristic feature of this syndrome is loss of purposeful hand movement before
age three. They are replaced by stereotype activity that looks like hand wringing of washing.
Disorganized breathing with hyperventilation. Seizures are common and is seen in 75-80
percent patient and vary from tonic clonic, partial complex seizures, Myoclonic seizures
occur in most children between the ages of 1 and 3 years.
DIAGNOSIS
So far no rational interpretation has been presented to correlate these derangements with
underlying disease and the diagnosis is purely clinical. Recently mutation in MECP2 seems to be
the main cause of Rett syndrome in 77 percent cases.3, 4
TREATMENT
No specific therapy has been suggested. Anticonvulsant has been used to control the convulsion.
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ANGELMAN SYNDROME (Figs 7.15A and B)

INTRODUCTION
In 1965, Dr Harry Angelman, an English physician, first described three children with features
of Angelman syndrome. They all have stiff, jerky gait, excessive laughter and seizures.
SYNONYM
Happy puppet syndrome
CLINICAL FEATURES5
Developmental delay, functionally severe speech impairment, none or minimal use of words;
receptive and on-verbal communication skills are higher than verbal ones.
Movement disorders usually ataxia, and tremulous movement of limbs.
Behavior uniqueness; any combination of frequent laughter, smiling, apparent happy
demeanour, easily excitable personality, often with hand flapping movement.
Delayed disproportionate head growth leading to microcephaly and seizures. EEG is
characteristic (1) 2-3 Hz high amplitude slow wave (over 200 mV) mixed with spikes or
sharp wave. (2) Large amplitude slow wave 4-6 Hz (theta activity) amplitude reaching >
200 mV.
Tongue thrusting, sucking, swallowing seen. Wide mouth, wide spaced teeth and frequent
drooling.
Figs 7.15A and B: Angelman syndrome. Note happy disposition, wide mouth, wide spaced teeths
GENETIC ASPECTS
There is microdeletion at chromosome 15 at 15q11-q13 seen in 60 percent cases. Few cases
have paternal disomy for chromosome 15.
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DUCHENNE MUSCULAR DYSTROPHY (DMD) (Figs 7.16A to D)

DEFINITION
Duchenne muscular dystrophy is the most common hereditary neuromuscular disease affecting
all race.
INCIDENCE
It is 1:3,600 live born infant boys.
GENETIC
It is inherited as X-linked recessive trait. DMD and Becker muscular dystrophy (BMD are
variable phenotypic expressions of a gene defect at the Xp21 site. The abnormal gene product
in both DMD and BMD is a reduced muscle content of the structural protein dystrophin. In
DMD the dystrophin content is less than 3 percent of normal, and in BMD thee dystrophin
content is 3 percent to 20 percent of normal.
CLINICAL FEATURES
Gait disturbance is the early feature, onset always before age 5 years and is often before age 3.
Toe walking and frequent fall are typical complaints.
Proximal muscle weakness is sufficiently severe to cause difficulty in rising from floor and
an obvious waddling gait. This is called as Gowers sign. It is evident at age 3 and is fully
expressed at age 5 to 6 yr. Calf muscle is hypertrophied.
There is learning disability and mild mental retardation.
Functional ability deteriorates after 8 yr, and after 9 children may requires wheel chair.
Scoliosis occurs in some children. The immediate cause of death is usually a combination of
respiratory insufficiency and cardiomyopathy.
Figs 7.16A to D: DMD. Note ths patient aged 6 yr exhibiting classical GOWERS SIGN. The child needs to turn
prone to rise, then uses his hands to climb up on his knees before standing, because of poor hip girdle fixation
and or proximal muscle weakness. Any child continuing to do this after 3 yrs is likely to have a neuromuscular
condition
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DIAGNOSIS
Before age 5 years the serum CK is 10 times the upper limits the rate of normal. The
concentration then declines with age at an approximately 20 percent per year.
Mutation analysis is the standard for diagnosis, carrier detection, and fetal diagnosis. Iatrogenic
deletion can be identified in 60 percent of affected boys and duplication in another 6 percent.
Dystrophin analysis of muscle is useful to distinguish DMD from BMD.
TREATMENT
There is neither a medical cure for the disease nor a method of slowing its progression.
Quality of life can be improved by tackling complications.
Supportive therapycardiac, pulmonary support, vitamins, calcium, physiotherapy.
Myoblast transfer therapyit is in experimental state.
Prednisolone, 0.75 mg/kg/d increases strength and function of muscle. It decreases the rate
of apoptosis or programmed cell death of myotubules during ontogenesis, but long-term
steroid use has its own disadvantage.
NEURAL TUBE DEFECT (Figs 7.17A to D)

The term neural tube defects refers to a group of malformations including anencephaly, cephalocele
and spina bifida.
SPINA BIFIDA
Synonym- Spinal dysraphism, rachischisis, meningocele, meningomyelocele.
Definition- Spina bifida can be defined as a midline defect of the vertebrae resulting in
exposure of the contents of neural canal.
Figs 7.17A to D: (A) Pilonidal sinus. (B) Precoccegeal cleft.

(C) Lipomeningocele. (D) Hypertrichosis over spina bifida occulta
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Incidence- Spina bifida is the most common CNS malformation. In United States it is 1 in
1000 live birth, but there is continuous fall in the incidence due to periconceptional use of
folic acid. The prevalence of NTD from different parts of India has been reported to vary
from 0.5 to 11 per 1000 births.
PathogenesisNormally the rostral end of neural tube closes on 23rd day and caudal
neuropore closes by 27th day. It is the result of failure of neural tube to close spontaneously
between 3rd and 4th week of gestation.
TypesIt encompasses a broad spectrum of abnormalities. Lesions are divided into ventral
and dorsal. Ventral defects are extremely rare. These lesions are seen in lower cervical and
upper thoracic vertebrae.
Spina bifida
Ventral
Dorsal
(Rare)
Spina bifida occulta (15%)
(Common)
Spina bifida aperta (85%)
Meningocele
Meningomyelocele
Dorsal defect is by far the most common. They are subdivided into two spina bifida occulta
15 percent is characterized by small defect completely covered by skin. Most of the time
the condition is asymptomatic and is detected incidentally at radiographic examination of the
spine. Some time an area of hypertrichosis, pigmented or dimpled skin, or presence of
subcutaneous lipoma. A dermal sinus connecting skin to vertebrae and to the dura mater
may occasionally be seen.
Spina bifida apertais the most common, i.e. 85 percent of dorsal defect. It may be open
or covered by a thin membrane. If the tumor contains purely meninges it is meningocele and
if it contains neural tissue it is called meningomyelocele.
Associated anomaliesThe two main categories are associated CNS defects and foot defect.
The CNS defects consists of abnormality in posterior fossa called as Arnold-Chiari
malformation type II. Dislocation of hip and foot deformity (club foot, rockerbottom foot).
Figs 7.18A to C: (A) Lumbosacral Meningomyelocele (B) Thoracolumbar

meningomyelocele (C) Cervical meningomyelocele
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Clinical manifestation
These defects presents in axial skeletal with variable amount dermal covering depending
on specific lesion.
Head is examined for presence of increased intracranial pressure by assessing fontanelles.
Head size is important to rule out large size and lacunar skull (Leukenschadel)
Lower limb abnormalities includes club foot and limited range of movement.
Neurological examination depends on type and level of lesion. In higher lesion reflexes
may be absent like knee, ankle and anal wink. Sensory impairment reflects the level of
the lesion.
About 85 percent of the NTD occurs in isolation, and inheritance is multifactorial. There
may be visible associated congenital anomalies like cleft lip and palate, imperforate anus
and crytorchidism.
There are few conditions, which are associated with NTD. Like Chromosomal
abnormalities especially trisomy 13 and 18 syndrome. Mutant gene (Meckels syndrome),
teratogen exposure (alcohol, valproate, thalidomide).
Prenatal diagnosis
Maternal alpha fetoprotein (AFP) levels at 16 th weeks of gestational age is now standard.
Elevated AFP for gestational age (>2.0 multiples of mean {MOM}) should prompt further
investigation via high-resolution sonography to look for fetal anomalies. Elevated amniotic
fluid AFP and acetylcholinesterase provides further support for the diagnosis.
Radiographic signs of open neural tube defect specifically include signs of the associated
Arnold-Chiari malformation (a banana sign or flattened cerebellum and a transient
frontal bone anomaly (a Lemon sign). USG can also demonstrate the level of the
normal cord and placode. Fetal MRI can further define anatomy.
Preventive measuresall women of child bearing age should receive folic acid 0.4 mg/day
(maximum daily requirement of folic acid is 0.4 mg).
For women who previously have given birth to an affected infant with a neural tube defect
should receive folic acid 4.0 mg/day beginning one month prior to conception through 3
month of pregnancy.
Obstetrical managementThe most important issue here is time and mode of delivery.
Infants with spina bifida should be delivered at term. Preterm deliveries are considered in
case when fetal ventriculomegaly and macrocrania is suspected. If the diagnosis is made in
the second trimester the option for termination has to be offered to the patient. Vaginal
deliveries may cause the trauma to neural tissues and exposes to bacteria of the birth canal.
SINCIPITAL MENINGOENCEPHALOCELE (Figs 7.19 A and B)

Cranial meningoencephalocele are usually classified as Occipital, sincipital and basal. The sincipital
type occurs around the dorsum of nose, the orbits and the forehead. Sincipital variant comprises
6.4 to 11.9 percent of cranial meningoencephalocele and is further subdivided into nasofrontal,
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Figs 7.19A and B: (A) Sincipital meningoencephalocele. (Photograph courtesy Dr Abhijeet Saha & Dr Prerna
Batra Senior Lecturers in Pediatrics, MGIMS, Sevagram, Wardha. (B) Sincipital encephalocele in one month old
female child.
nasoethmoidal and nasoorbital types. Clinically intracranial communication of this swelling is

apparent due to presence of gentle pulsations in it and a positive cough impulse. CT scan is
diagnostic. Operative intervention is by a combined neurosurgery and ENT team.
ANENCEPHALY (Figs 7.20A and B)
Synonympseudoencephaly, extracranial disencephaly.

DefinitionAnencephaly is an anomaly characterized by the absence of cerebral hemisphere.
EtiologyMultifactorial etiology.
PathologyMost of the cranial vault is absent. The frontal bone above the supraorbital
ridge is absent, the parietal bones and the squamous part of occipital bones are absent. The
crown of the brain is covered by vascular membrane called as area cerebrovasculosa.
Antenatally it is diagnosed by USG as early as 12th to 13th weeks. Polyhydramnios is
associated some time.
PrognosisAlmost fatal.
Obstetrical managementTermination of pregnancy can be offered to patient anencephaly
infant are a potential source of organ for transplantation.
Figs 7.20A and B: (A) Anencephalic baby with occipital encephalocele and attached placenta.
(B) Anencephalic still born note the loss of cranial vault and peeping brainmatter
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INIENCEPHALY (Fig. 7.21)

DEFINITION
Iniencephaly is rare fatal neural tube defect
characterized by involvement of occiput (inion)
combined with rachischisis of cervical and thoracic
spine with extreme retroflex ion of the head. It is an
extremely rare condition. With an incidence in India
is 1in 65,000.
ETIOLOGY
It has been reported in maternal syphilis and with
sedative intake.
Fig. 7.21: Iniencephay stillborn. Note the extreme

retroflexion of neck and rechischisis of cervico
thoracic spine
DIAGNOSTIC CRITERIA
Imperfect foramina of the base of the skull, particularly at the level of foramen magnum.
Presence of spinal rachischisis.
Exaggerated lordosis of the spine.
ASSOCIATED ANOMALIES
Eighty four patient of iniencephalic infant have other associated anomalies, including anencephaly,
cephalocele, absence of mandible, cleft lip and palate, cardiovascular anomalies, diaphragmatic
hernia, single umbilical artery, omphalocele, gastoschisis, situs invertus.
PROGNOSIS
Almost fatal.
The option of termination of the pregnancy should be offered to the patient. If pregnancy is
continued it may cause obstructed labor due to hyperextended head, hence cephalocentesis or
embryotomy has to be done to avoid cesarean section.
MICROCEPHALY (Figs 7.22A and B)

Most of the head growth occurs in the first two years of life and 80 percent of adult head size
is achieved before the age of 5 years. This largely reflects the brain growth.
DEFINITION
Microcephaly is clinical syndrome characterized by a head circumference below 2 SD.
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Figs 7.22A and B: (A) Small sloping forehead with head circumference below 2 SD. Clinically patient was
exhibiting features of spastic cerebral palsy (B) A patient with gross microcephaly and mental retardation
CLASSIFICATION
Microcephaly is divided into two categories: (a) Microcephaly without associated anomalies
and (b) Microcephaly with associated malformations like macrogyria, pachygyria, and atrophy
of basal ganglia.
Causes
Familialwhen present since birth and development is normal. Autosomal recessive condition
when it is associated with developmental delay. Congenital infections. Acquiredinsult to the
developing brain like perinatal hypoxia, hypoglycemia, meningitis, they are later associated with
cerebral palsy and seizures.
AGENESIS OF CORPUS CALLOSUM (Figs 7.23A and B)

Dysgenesis of the corpus callosum is an anomaly that may occur in isolation or in association
with other CNS or systemic malformations.
Dysgenesis of corpus callosum is usually a sporadic occurrence, although the incidence is
increased in patients with trisomy 18, trisomy 13, and trisomy 8. Several familial cases have
been reported.
Other anatomic abnormalities in patients include hydrocephalus; cephaloceles; and neuronal
migration disorders such as lissencephaly, schizencephaly, gray matter heterotopias,
pachygria, and polymicrogyria.
The clinical manifestations of callosal dysgenesis can be described under two headings:
nonsyndromic and syndromic.
Nonsyndromic forms are the most common. An unknown, though probably small,
proportion of patients are completely asymptomatic, or more commonly, their condition
is incidentally discovered during neuroimaging. Patients may present with mental
retardation or delayed development, seizures, and cerebral palsy.
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A number of syndromes may be associated with ACC. Some of the more common ones
include Dandy-Walker syndrome, Aicardi syndrome, fetal alcohol syndrome, and several
of the trisomies.
The establishment of a nosologic diagnosis clarifies the etiology of the disease, providing
more efficient genetic counseling and treatment options.
Figs 7.23A and B: Agenesis of corpus callosum (A) CECT head depicting selective dilatation of trigones and
occipital horns of lateral ventricles. There was a high riding third ventricle with radial spoke like arrangement of
gyri. (B) MRI head- hypoplasia of corpus callosum. This 11-month-old patient was put on to long-term anticonvulsants
(Photographs courtesy- Dr Sidharth Kumar Sethi, Dr Anju Aggarwal, Dr MMA Faridi Department of Pediatrics,
UCMS and GTB Hospital, Shahdara,Delhi)
LISSENCEPHALY (Fig. 7.24)

Lissencephaly, which literally means smooth brain, is a rare brain formation disorder
characterized by the lack of normal convolutions
(folds) in the brain, and an abnormally small head
(microcephaly). It is caused by defective neuronal
migration, the process in which nerve cells move
from their place of origin to their permanent
location.
Symptoms of the disorder may include unusual
facial appearance, difficulty swallowing, failure
to thrive, and severe psychomotor retardation.
Anomalies of the hands, fingers, or toes, muscle
spasms, and seizures may also occur.
Lissencephaly may be associated with other Fig. 7.24: CECT head-Lissencephaly. There is
diseases including isolated lissencephaly smooth thickened cortex with diminished white
sequence, Miller-Dieker syndrome, and Walker- matter, there was absent sulci and gyri of the
brain. (Photographs courtesy- Dr Sidharth
Warburg syndrome.
Kumar Sethi, Dr Anju Aggarwal, Dr MMA Faridi
The severe malformations of the brain in Department of Pediatrics, UCMS and GTB
lissencephaly most likely will not respond to Hospital, Shahdara, Delhi
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treatment. Normal supportive care may be needed to help with comfort and nursing needs.
Seizures may be controlled with medication.
The prognosis for children with lissencephaly is variable depending on the degree of brain
malformation. Many individuals show no significant development beyond a 3 to 5 monthold level. Some may have near-normal development and intelligence.
JOUBERT SYNDROME6 (Figs 7.25 A to D)

Joubert syndrome is an autosomal-recessive disorder characterized by cerebellar hypoplasia,
hypotonia, developmental delay, abnormal respiratory patterns, and abnormal eye movements.
Careful examination of the face shows a characteristic appearance, and a neuroophthalmologic examination shows the presence of oculomotor apraxia. In the neonatal
period, most children have hyperpnea intermixed with central apnea.
Among the associated malformations found in patients ascertained as having Joubert
syndrome, 8% of patients had polydactyly, 4% had ocular colobomas, 2% had renal cysts,
and 2% had soft-tissue tumors of the tongue.
Neuroimaging of the head in the axial plane demonstrates the molar tooth signdeep
posterior interpeduncular fossa, thick and elongated superior cerebellar peduncles, and
hypoplastic or aplastic superior cerebellar vermis.
Figs 7.25A to D: (A) A one-year-old child presented with prolonged pyrexia. He was first issue of
nonconsanguinous marriage. He had history of periodic tachypnea and apnea. Note the hypotonia and postaxial
polydactyly of fifth toes, occulomotor apraxia and abnormal eye movements. (B) Fundus examination revealed
coloboma of disc and choroids. (C, D) CT Scan head revealed vermian agenesis and Molar tooth sign
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Differential diagnosisThe molar tooth sign could be present in association with the
Dandy-Walker malformation and occipital encephalocele. The differential diagnosis of
cerebellar hypoplasia consists of conditions related to Joubert syndrome such as Arima
syndrome; Senior-Loken syndrome; cerebellar vermian hypoplasia, oligophrenia, congenital
ataxia, coloboma, and hepatic fibrosis syndrome; and juvenile nephronophthisis due to NPH1
mutations.
LARGE HEAD (MACROCEPHALY) (Figs 7.26A and B)

The head circumference should be measured during infancy and the maximum occipito
frontal diameter is usually 2 cm above the chest circumference in full term neonate. In
premature infants the difference is even greater here head appears much large.
The term macrocephaly refers to an occipito frontal diameter of more than 3 SD above the
mean. Therefore, committing microcephaly one must plot the exact head circumference on
a standard graph.
Hydrocephalusis one of the most important causes of macrocephaly. Careful clinical
examination of fontanels, sutures, skin texture, eye movement and the presenting symptoms
are to be done. A cranial ultrasound should be performed in every cases.
Figs 7.26A and B: Macrocephaly. (A) A neonate with hydrocephalus at birth. (B) A neonate with Hydranencephaly.
Please note that clinically all large head appears same unless screened by cranial ultrasound or CT MRI head
Dandy-Walker syndromeThis condition has a prominent occiput and hydrocephalus. A

prominent occiput is also a feature of trisomy 18.
HydranencephalyIn this condition skull and meanings are normal but the cerebral hemisphere
is not developed. The transillumination of head positive.
PorencephalyHere the patent presents with seizures, infantile spasm, asymmetry of skull
and microcephaly, delayed milestone. Transillumination positive over focal area.
MegalocephalyIt may represent the brain growth at upper limit of normal growth seen in
familial large head pattern.
Other causesCerebral arachnoid cysts, intracranial tumors in infants, thickening of skull
like osteopetrosis, osteogenesis imperfacta, and other skeletal dysplasias. Caravans disease,
Alexander disease, Russell dwarf, etc.
Transillumination(Fig. 7.27) It constitutes most important part of physical examination
below one year. Procedure requires a flashlight fitted with rubber cuff so that light can be
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Fig. 7.27: Transillumination test. Note

the transillumination over the skull
firmly attached to the skull. Note the transillumination. Translucency beyond 2 to 2.5 cm in
the frontal region and over 1 cm in the occipital region may be abnormal. Transillumination
is positive in subdural effusion, subdural hematoma, hydrocephalus, hydranencephaly and
porencephaly. Suboccipital transillumination is positive in Dandy-Walker malformation.
PHENYTOININDUCED GINGIVAL OVERGROWTH (PIGO) (Fig. 7.28)

PIGO occurs in 10 to 30 percent patient treated by phenytoin. The basic cause of overgrowth
being that phenytoin directly stimulates the gingival fibroblast resulting into increased synthesis
of collagen.
In severe cases manifestation includes. (1) Gross enlargement of gingiva sometime covering
whole of the teeths. (2) Edema and erythema. (3) Secondary infections. (4) Migration of
teeth. (5) Inhibition of exfoliation of primary teeth and subsequent impaction of permanent
teeth.
Other causes of gingival hyperplasia include use of cyclosporine and calcium chennel blockers.
Treatment-Stop the offending drug. Frequent dental checkups. Gingivectomy in severe
cases.
Fig. 7.28: Phenytoin-induced gum hyperplasia
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Drug Induced Dystonia (Figs 7.29 A and B)

Acute dystonic reactions can be induced as an idiosyncratic reaction by dopamine depleting
drugs such as antihistamines, antipsychotics, antiemetics (domperidone, metoclopramide,
prochloperazine) tetrabenazine, and antimalarials. The dystonia usually occurs on the first
day of drug exposure and affects the head, neck, and trunk muscles with neck retraction,
tongue protrusion, trismus, and oculogyric crisis. Difficulty with swallowing and speaking
may occur.
Figs 7.29A and B: Acute dystonic reaction: (A) Six-year-old patient had spasmodic conjugate deviation of the
eye upwards accompanied by synergistic movement of head and neck (Occulogyric crisis). This abnormal
posture was caused by drug metachlorpramide, a nonphenothiazine antiemetic that blocks post synaptic dopamine
receptors. (B) Two-year-old boy presented with abrupt onset of dystonia of neck with uprolling of eye ball, he
has received injection metachlorpramide for vomiting
Domperidone and metoclopramide use is restricted in children and young adults (under 20
years) in whom acute dystonic reactions are more common, often delayed (tardive) dystonias
are seen.
Condition is self-limiting or responds well to anticholinergics (benztropine) or benzodiazepines,
but they may be prolonged and resistant to therapy.
Tardive DystoniaThe onset is usually 3 to 11 days after treatment with neuroleptics drugs
is initiated. The dystonia is usually generalized in children but may be focal in adults.
REFERENCES
1. Rajshekharan V, Haran RP, Prakash S. Differentiating solitary small cysticercus granulomas and tuberculomas
in patients with epilepsy. J.Neurosurg 1993;78:402-07.
2. Myasthenia gravis; 250 cases in clinical medicine, RR Baliga; 186, third edition 2002.
3. Huppke P et al, Rett syndrome: analysis of MECP2 and clinical characterization of 31 patient; Hum Mol
Gen 2000;22:9(9):1369-75.
4. M Ghofrani and T Mahmoodian. Rett syndrome; Indian Journal of Pediatrics 2000;67(7).
5. Angelman syndrome. Consensus for diagnostic criteria. Am J Med Genet 1995;56:237.
6. Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Clinical nosologic and genetic
aspects of Joubert and related syndromes. : J Child Neurol. 1999;14(10):660-6; discussion 669-72
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DOWN SYNDROME (Figs 8.1A to C)

DEFINITION
It is chromosomal disorder, having aberration on chromosome number 21 hence also called as
trisomy 21. It was first described in 1866 by John Langdon Down. The condition was labeled
mongolism due to its facial resemblance to people of mongolian race.
CLINICAL FEATURES
The facial feature of this condition is so classical that it can be recognized immediately or
gestault recognition. The patient is hypotonic, short nose with flat nasal bridge, up slanting of
palpebral fissure and prominent epicanthic folds, speckling of iris (Brushfield spots), mouth
small and tongue appears large. Ears low set with sensorineural deafness in 75 percent patients.
Occiput is flat, neck short. CHD is present in 40 percent cases with A-V canal defects. Duodenal
atresia is most common gastrointestinal problem associated. Simian crease, short and broad
hands with short metacarpals and phalanges, clinodactyly, hypoplasia of middle phalanges of
little finger. Wide gap between first and second toe. Hypoplastic pelvis and short stature.
Hypothyroidism is more common than hyperthyroidism. Ten fold higher chances of leukemia
than general population.
GENETIC ASPECTS
Trisomy 21- There are three representatives of chromosome 21 instead of usual two, thus
making a total of 47 chromosomes.
Maternal nondysjunction at chromosome 21 is responsible for 95 percent of trisomic cases.
Mosaicism is seen in 3 percent cases.
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Figs 8.1A to C: Down syndrome. (A) note upslanting palpebral fissure, epicanthus folds, prominent tongue, small
nose, depressed nasal bridge (B) A 10-year-old girl of Down syndrome, note the Mongolian slant of palpebral
fissure, synophrys,epicanthus (C) Cliniodactyly with simian crease
Translocation is seen in 2 percent cases of which robertsonian translocation is most common.

A small number of cases have a isochromosome for the long arm of chromosome
21-t (21q;21q).
DIAGNOSIS AND FOLLOWUP
Gestault recognition of typical phenotypic features.

Chromosomal karyotype from peripheral blood.
Cardiac assessment to be done in all cases before six months of age.
Thyroid screening by TSH and T4 estimation through out childhood.
Hearing assessment by auditory brain stem evoked potential between 6 and 8 months.
Ocular assessment for cataract, myopia and strabismus at 4 years of age.
X-ray cervical spine lateral for atlanto-axial dislocation of spine which is seen in 12 to 20
percent cases.
PRENATAL DIAGNOSIS
Triple test: Screening with triple markers offers a non-invasive method for detection of up
to 60 percent of Down syndrome pregnancies. Presence of Down syndrome can be suggested
by:
Lower maternal serum alpha fetoprotien (msAFP) levels.
Decreased maternal serum unconjugated estradiol values.
Increased maternal serum human chorionic gonadotropin values.
It is performed between 16 and 18 weeks and if positive needs further invasive tests.
Chorionic villous blood sampling by amniocentesis of all mothers above 35 years age.
Antenatal ultrasonography: May reveal increased nuchal fold translucency, duodenal atresia,
tracheoesophageal atresia, VSD, ASD, hypoplasia of middle phalange of little finger. This
anomaly scan is to be performed at 24 weeks gestation.
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Fetal nuchal skin thickening: It is increase soft tissue thickening in the posterior aspect of
neck. The nuchal thickness of more than 6 mm during second trimesters has a sensitivity of
38 percent and positive predictive value of 69 percent with false positive rate of 0.1 percent
for Down syndrome. More recently thickness of more than 3 mm in the first trimester
increases the risk of Down syndrome by 10 folds. There are some other condition were
increased thickness of skin is seen over nuchal region are:
Chromosomal syndromes:
13q syndrome, xxxx and xxxxy syndromes, trisomy 18,
18p-syndrome.
Nonchromosomal disorders: Multiple pterigium syndrome (Escobar syndrome), KlippelFeil sequence, Zellweger syndrome (cerebrohepatorenal
syndrome)
EDWARDS SYNDROME (TRISOMY 18) (Figs 8.2A to C)

DEFINITION
Trisomy of chromosome 18 results in Edwards syndrome. It occurs with frequency of 1 in
5,000 live births. This condition is noted in deliveries of aged mothers. Female male ratio is 4:1.
CLINICAL FEATURES
These babies have low birth weight, prominent occiput, narrow palpebral fissure. Nails are
small and finger occupies a peculiar position. Small and second and fifth finger overlap the
middle two. Feet have convex profile with prominent heel it is called as Rocker bottom foot it
is due to vertical talus. Other anomalies associated are cleft lip, exomphalus, radial aplasia,
CHD, horseshoe kidney. 30 percent cases die within 2 month and 90 percent die before one
year.
Figs 8.2A to C: Edwards syndrome.(A) Preterm, low birth weight baby with sloping forehead. (B) See the feet
profile which is convex and heel prominent Rocker bottom foot. (C) Characteristic fisting in which second and
fifth finger overlaps the middle two
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GENETIC BASIS
Most of the cases have regular trisomy. The risk of recurrence is one percent.
PRENATAL DIAGNOSIS
Second trimester anomaly scan will reveal presence of IUGR, CHD, polyhydramnios, club
foot, rocker bottom feet, choroid plexus cyst, large cysterna magna, micrognathia and small
nose.
TRISOMY 13 (PATAU SYNDROME) (Figs 8.3A to D)

Pataus syndrome has an incidence of 1in 6000. They have multiple malformations. Craniofacial
features include moderate microcephaly with sloping forehead, hypotelorism, small nose and
localized scalp defect in parieto-occipital area (Figs 8.3 and 8.4). Scalp defects may be helpful
diagnostically as they rarely appear in other abnormalities. They are punched out lesions due to
aplasia cutis congenita (Fig. 8.5). The skin is usually totally lacking, but the crater becomes
covered with scar tissue postnatally. Postaxial polydactyly is frequent in the hands. Fig. 8.6
shows postaxial polydactyly in both hands. There is flexion of fingers with overlapping and
camptodactyly. Fig. 8.7 shows polydactyly of right foot. There is posterior prominence of heel
and cleft between first and second toes. Internally, cerebral, renal and cardiac abnormalities are
also present frequently.
Figs 8.3A to D: Patau syndrome (A) Microcephaly with sloping forehead, hypotelorism, small nose. (B) Localized
scalp defect in parieto-occipital area. (C) Shows postaxial polydactyly in both hands. There is flexion of fingers
with overlapping and camptodactyly. (D) Shows polydactyly of right foot (Photograph courtesy Dr Ramesh
Bhatt, Manipal)
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SALDINO-NOONAN SYNDROME
(SHORT RIB-POLYDACTYLY TYPE I) (Figs 8.4A to D)
CLINICAL FEATURES
This condition was originally described by Saldino and Noonan in 19721 Naumoff et al (1977)
proposed two distinct type of lethal short rib polydactyly syndrome. Type I and type II. SaldinoNoonan syndrome is comparatively common and characterized by micromelia, postaxial
polydactyly, brachydactyly, thoracic narrowing and abnormalities of the cardiovascular system
and genitalia.
The base of the ileum is hypoplastic and vertebrae rounded, sometimes with coronal clefts.
The ends of the long bones are either pointed or have a convex central area of ossification
with lateral metaphyseal spikes.
GENETIC ASPECT
It is autosomal recessive condition.
It is lethal condition and death occurs within few hours of birth and is due to pulmonary
hypoplasia.
Antenatally in the absence of positive family history specific diagnosis is not possible. The
condition is suspected in the presence of short limb dysplasia, narrow thorax, and polydactyly.
The option for termination of the pregnancy must be offered to the patient as soon as the
diagnosis has been established.
Figs 8.4A to D: Saldino-Noonan syndrome. (A) Infant with very narrow thorax, short limbs, and postaxial
polydactyly. (B) Severely shortened thorax, short ribs, small pelvis, short tubular bones (C) (D) Note polysyndactyly
Ref- Indian Pediatrics 2005; 42:389 with permission
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SHORT RIB POLYDACTYLY SYNDROME TYPE II

(MAJEWSKI) (Figs 8.5, 8.6A to C)
Majewski described four infants with this lethal form of short-limb dwarfism (1971).
CLINICAL FEATURES
This is extremely rare condition, presents with short stature with disproportionate short limbs.
There is characteristic mid line cleft lip cleft palate. Short flat nose malformed and low set ears.
Preaxial and postaxial polysyndactyly of hands or feet. Brachydactyly, short and oval tibia,
short rounded metacarpals, narrow thorax, horizontal ribs. Ambiguous genitalia are common.
Death is due to pulmonary hypoplasia.
Fig. 8.5: Short rib polydactyly syndrome Type 2.

Note large head narrow chest, polydactyly, midline cleft of upper lip
Figs 8.6A to C: Majewski dysplasia (A) Note midline cleft, depressed nasal bridge, low set ears (B) Polysyndactyly
of palms and feet (C) X-ray revels shortening of limb, presence of oval shaped tibia
GENETIC ASPECT
It is autosomal recessive condition.
Prenatal diagnosis: It has been made in fetuses at risk by identification of short tibia, polydactyly
and cleft lip at fetoscopy, or severe micromelia, short ribs with narrow thorax, and polydactyly
at ultrasound. The earliest diagnosis has been made at 16th week of gestation.
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Termination of the pregnancy must be insisted after the diagnosis of the condition.
THANATOPHORIC DYSPLASIA (Figs 8.7A to C)

DEFINITION
l
Thanatophoric dwarfism is probably the most common amongst the potential lethal conditions,
which presents with disproportionate shortening of the limbs in the newborn. The designation,
derived from the Greek thanatophoras, or death bearing was used in the original case
description by Maroteaus, Lamy and Robert.5 TD is divided into two clinically defined
subtypes. TD type 1 (TD1), the most common subtype, features curved long bones (shaped
like a telephone receiver) with the femurs being most affected and a normal skull. TD type
2 (TD2) has a cloverleaf skull associated with straight femur. There is some clinical overlap
between these two subtypes. The incidence being one in 20,000.
CLINICAL FEATURES
The patient is delivered with short limb, prominent forehead and depressed nasal bridge.
Chest is narrow. Affected individual are usually stillborn or die due to respiratory insufficiency
in the neonatal period.
Figs 8.7A to C: Thanatophoric dysplasia. (A) Note very short bowed limbs, narrow chest with large head,
prominent forehead, depressed nasal bridge, mid facial hypoplasia. (B) X-ray Pelvis with lower limb- Shortened
long bones with metaphyseal widening and cupping and characteristically curved femur Telephone receiver.
The iliac wings are hypoplastic, narrow sacrosciatic notches, severe flattening of vertebral body gives H or U
shape in AP radiographs. (C) X-ray chest and abdomen revealed narrow thorax along with classical skeletal
abnormalities
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The vertebral bodies have an H-shaped appearance in frontal radiograph due to flattening of
their mid-portions and relative prominence of their pedicles. Pelvis is broad, with horizontal
acetabulae. The tubular bones are broad and short. The femora are bowed with a telephone
receiver configuration, which is pathognomic of thanatophoric dwarfism.
GENETIC ASPECTS
Most cases are sporadic. A lethal dominant gene probably causes the condition. Mutation of
the Fibroblast Growth Factor 3 (FGFR3) gene has been demonstrated.
Thantophoric dysplasia (TD) associated with cloverleaf skull is a separate condition from
isolated TD also called as Kleeblattschadel syndrome. The long bones are longer and may
not be bowed. The skull changes are very unusual in that the basal and occipital bones are
underdeveloped so that parietal bones form most of the back of the skull.6
ANTENATAL DIAGNOSIS
A specific diagnosis of this condition is only possible when severe micromelia is associated
with cloverleaf skull. In the absence of cloverleaf skull the disease should be suspected when
severe rhizomelic dwarfism and a narrow thorax are detected. In 71 percent cases achondroplasia
is associated with polyhydramnios. These features may not be evident till late mid trimester.
The relationship between femur and BPD become abnormal after 21st and 27th weeks.
When the diagnosis is certain the option to terminate the pregnancy may be offered to patient
since the condition is uniformly fatal.
ACHONDROGENESIS (Figs 8.8A to D)

DEFINITION
Achondrogenesis is a group of severe disorders that affect cartilage and bone development.
These conditions are characterized by a small body, short limbs, and other skeletal abnormalities.
As a result infants with achondrogenesis are usually born prematurely, are stillborn, or die
shortly after birth from respiratory failure. Some infants, however, have lived for a while with
intensive medical support.
SYNONYMS
Type IA is the Houston-Harris type,
Type IB is the Parenti-Fraccaro type,
Type II is the Langer-Saldino type and is also called Chondrogenesis Imperfecta. It is difficult
to distinguish them clinically.
INCIDENCE
Rare with probably less than 100 cases reported.
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GENETICS
Mutations in the COL2A1 and SLC26A2 genes cause achondrogenesis. Type I may be inherited
as autosomal recessive in some cases. Most of the type 2 are sporadic and are likely to represent
new autosomal dominant mutation.
Figs 8.8A to D: Achondrogenesis: (A and B) A stillborn infant with rhizomelic shortening of limbs, head appears
relatively large, short neck, short thorax, (C and D) X-ray whole body reveals very short long bones with
metaphyseal widening, vertebral bodies poorly mineralized. Photographs courtesy Dr Nalini Madharia, Raipur,
CG.
DIAGNOSIS
Type I achondrogenesis is a severe chondrodystrophy characterized radiographically by
poor ossification of the spine and pelvis bones which results in stillbirth or early death.
Type II also presents with the same findings but the mineralization deficit is less severe and
the long bones less short.
Differential Diagnosis
Osteogenesis Imperfecta (type II and occasionally IIIc) and hypophosphatasia also present
with demineralization but the limb shortening is not usually as severe.
Prognosis
Lethal
MANAGEMENT
Termination of pregnancy can be offered before viability. Standard prenatal care is not altered
when continuation the pregnancy is opted for. Confirmation of diagnosis after birth is important
for genetic counseling.
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ASPHYXIATING THORACIC DYSPLASIA (ATD) (Figs 8.9A and B)

SYNONYMS
Jeune syndrome, Jeune thoracic dystrophy syndrome, infantile thoracic dystrophy.
ETIOLOGY
Autosomal recessive inheritance. Minor manifestations of the disease have been noted in parents
of affected children, and therefore, the possibility of heterozygous expression has been suggested.
CLINICAL FEATURES
Jeune syndrome or asphyxiating thoracic dystrophy (ATD) is a rare autosomal recessive skeletal
dysplasia characterized by a small thorax, predominantly rhizomelic brachymelia, renal and
hepatic anomalies. Half of the cases have polydactyly. Radiological confirmation of diagnosis is
essential. The ribs are short, and the ilia of the pelvis are small, horizontal acetabular roof medial
bony projection is visible to give a trident appearance. Premature ossification of capital femoral
epiphysis is seen. Newborn with thoracic dysplasia associated with lung dysplasia usually die
during the neonatal period due to respiratory failure. In those who survive, chronic renal failure
is a common cause of death. Renal histopathology reveals cystic changes later peri-glomerular
fibrosis. Cirrhosis liver is also one of the causes of early morbidity.
ANTENATAL DIAGNOSIS
At present there is no biochemical or
genetic marker, which could be used for
prenatal diagnosis of ATD. However,
prenatal ultrasonography measurements
like TC/AC (Thoracic circumference /
Abdominal circumference) and RCP (Rib
Cage Perimeter)/TC helps in diagnosing
skeletal dysplasia associated with small
thorax.
PROGNOSIS
Eighty percent of affected infants die in
the neonatal period from respiratory failure
and infections. Long- term survivors have
been reported but they seem to have milder
form of disease.
Figs 8.9A and B: Asphyxiating thoracic dystrophy. (A) Note

small and elongated thoracic cage, protuberant abdomen.
(B) Note short horizontal ribs with irregular costochondral
junction and narrow thoracic cage
OBSTERTICAL MANAGEMENT
Termination of pregnancy is offered when the diagnosis is made in second trimester. There is
paucity of data on which to be based the management of cases diagnosed in the third trimester.
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ACHONDROPLASIA (Figs 8.10A to C and 8.11A to G)

Achondroplasia is by far the commonest and best-known form of short-limbed dwarfism.
CLINICAL FEATURES
The characteristic facies, habitus and stance of the achondroplast are unmistakable. They can
be diagnosed at birth.
The limbs are disproportionately short (rhizomelic shortening) and the knees are often bowed
while lumber spine is lordotic. There is inability to approximate the third and fourth finger
produces a trident configuration of hand. The forehead is bossed and nasal bridge is
depressed.
The general health is good, and the life span is not reduced. Skeletal problems may include
premature osteoarthritis, particularly of knee joint. Backache may be troublesome and some
degree of spinal cord compression may supervene. Restriction of nasal airway predisposes
to upper respiratory infection. Mentality is normal, but intellectuality is compromised in
minority of achondroplasts, probably due to mild internal hydrocephalus. Severe
hydrocephalus needs sometime shunt surgery.
Radiologically the pelvis is abnormal with small iliac wings have tombstone configuration,
horizontal acetabular roof with bony spike. The long bones are short and the metaphysis
slope. There is translucent area at the proximal ends of the femur in the neonatal period;
later narrowing of the interpedicular distances in the lumber region becomes evident. Skull
is relatively large, with frontal prominence and a small foramen magnum.
Figs 8.10A to C: Achondroplasia. (A) Short stature with rhizomelic shortening of limbs, with broad prominent
forehead. (B) X-ray upper limb. Note rhizomelic shortening (C) X-ray pelvis and legs Note short round ilea crest,
horizontal acetabular roof
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GENETIC ASPECTS
Achondroplasia is an excellent example of autosomal dominant inheritance the gene is invariably
penetrant, with persistent clinical expression. More than 80 percent of achondroplasts have
normal parents.8 These sporadic patients are assured to be the result of new mutation of
particular gene, which has taken place before conception. Murdoch et al2 have shown that
there is a significant increase in the average age of the unaffected fathers of sporadic
achondroplasts. Achondroplasia, therefore, ranks as one of the disorders in which paternal are
effect in the genesis of a new mutation has been demonstrated. The gene maps to 4q and
mutation have been demonstrated in the fibroblast growth factor receptor3 (FGFR3) gene.
Figs 8.11A to G: Achondroplasia. (A) (B) Note large and prominent forehead, rhizomelic shortening and lumbar
lordosis (C) Chest X-ray-small thorax, shortened and anteriorly splayed ribs (D) X-ray pelvis- elephant earshaped iliac wings. narrow sacrosciatic notches, flat acetabular roofs (E) X-ray skull - enlarge with significant
midfacial hypoplasia, hydrocephalus rarely presents, small skull base with tight foramen magnum (F) X-ray spine
shows short pedicle of vertebral bodies with decreased interpedicular distance most marked in the lumbar
spine. Posterior vertebral scalloping which persists through the life (G) Normal parent of an achondroplast child,
explains fresh mutation, here the recurrence risk are small
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COUNSELING
Unaffected parents of achondroplasts can be reassured that the risk of recurrence in further
offspring is very low. If an achondroplast married to normal individual, the offspring will
definitely be an achondroplastic. If both parents are achondroplasts then there is theoretical
chance of 25 percent of infants may be homozygous for abnormal gene, 25 percent may be
homozygous for normal gene and rest 50 percent may be heterozygous for abnormal gene.
PRENATAL DIAGNOSIS
Prenatal diagnosis of achondroplasia has been reported by several authors.9 The diagnosis has
been relied on identification of shortened long bones, particularly the femur. But it has been
noted that the shortening has not been picked up until the third trimester, and therefore a
diagnosis before viability may only be possible in the most severe cases.
PROGNOSIS
This condition is compatible with normal life. Recurrent ear infection occurs due to poor
development of facial bones and inadequate Eustachian tube drainage. Crowded dentition may
lead to malocclusion. Average height in men 52 inches and in female 49 inches. Hydrocephalus
and syringomyelia may be because of small foramen magnum. Sudden death and respiratory
compromises is attributed to compression of upper cervical spine. The most significant handicaps
in these patients are neurological complications secondary to spinal cord compression; which
may range from paresthesias to complete paraplegia.
TURNERS SYNDROME (Figs 8.12A to C)

DEFINITION
It is a syndrome characterized by short stature female, sexual infantilism, streak gonads, absence
of second sex chromosome and other somatic anomalies.
SYNONYM
Gonadal dysgenesis, XO syndrome, Ulrich-Turner syndrome.
GENETICS
Most cases (50%) have XO karyotype in every cell. About 15 percent cases have mosaic
pattern 45X, / 46XX and 45X/47XXX.
INCIDENCE
Between 1 in 2,500 and 1 in 6000. About 98 percent of pregnancies involving Turner syndrome
abort spontaneously.
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Figs 8.12A to C: Turner syndrome. (A) Newborn with webbing of neck, low posterior hairline,
edema of hand (B) Pedal edema (C) Webbing of skin and low posterior hair line
CLINICAL FEATURES
Short stature (adult height usually < 144 cm), broad chest with wide spaced nipple, webbing of
posterior neck (about 50% cases), lower posterior hair line, short neck, hyperconvex nails and
cubitus valgus (increased carrying angle of arms), lymphedema of dorsa of hands and feet.
OTHER FEATURES
CHD (15-30% cases) Bicuspid aortic valve (50%), coarctation of aorta (20%), aortic root
dilatation (10%), aortic stenosis, anomalous pulmonary venous return. Renal anomalies like
horseshoe anomalies, UPJ obstruction, absence of kidney. Hearing loss. Abnormally large ears,
epicanthus, ptosis of upper eyelid, downward and outward slant of palpebral fissure, short
fourth metacarpals, cutaneous nevi, which increase with age. Lack of sexual maturation with
primary amenorrhea in a teenager. Intelligence is normal with some impairment in cognitive
function like visual-spatial processing, visual memory. Associated diseases are primary
hypothyroidism, diabetes mellitus, ulcerative colitis, Crohns disease.
LABORATORY INVESTIGATIONS
Karyotyping in every suspected cases.
Buccal smear for sex chromatin (Barr body).
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Hormonal assay (FSH, LH, TSH, T4).

Bone age.
USG reveals small ovaries with often streak like appearance, horseshoe kidney and other
related anomalies.
Echo evaluation of heart to pick up cardiac anomalies and to monitor progressive dilatation
of aortic root.
TREATMENT
To enhance the height of patient growth hormone therapy usually between 2 and 5 years. It
has to be continued until growth velocity decreases to less than 2.5 cm/year with a bone age
over 15 years.
It is quite expensive as dose required is very high. Cyclical estrogen progesterone treatment
at pubertal age will induce withdrawal bleeding and give psychological satisfaction to patient.
Manage other associated anomalies accordingly.
NOONANS SYNDROME (Fig. 8.13)

INCIDENCE
Unclear may be as high as 1 in 1,000.
ETIOLOGY
Sporadic although some AR and AD familial cases are reported.
A gene has been mapped to 12q11-qter.
PERFORMANCE
Mild MR in 50 percent cases.
KEY FEATURES
Short stature (more than 66% of cases), broad forehead with
ptosis, malformed ears, (low set, fleshy fold sod upper
transverse helix), low posterior hairline with webbed neck.
OTHER FEATURES
CHD is seen in more than 50 percent of cases. Common CHD
are seen valvular pulmonary stenosis, peripheral pulmonary
artery stenosis, PDA, ASD VSD, aortic coarctation and Ebstein
anomaly. Cryptorchidism, epicanthic folds, hypertelorism,
micrognathia, flat nasal bridge, (saddle nose). One third cases
shows variety of bleeding disorders. Noonans syndrome should
not be referred to be as Male Turners syndrome.
Fig. 8.13: Noonans syndrome. Sixyear-old patient with short stature,

characteristic facies, pectus
excavatum, and wide spaced
nipple. This patient had systolic
murmur at pulmonary area,
confirmed to have pulmonary
stenosis on echocardiography
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Noonans syndrome has to be differentiate from XO/XY mosaicism, fetal hydantoin syndrome,
fetal myosoline syndrome and fetal alcohol syndrome.
MARFANS SYNDROME (Figs 8.14A and B)

INCIDENCE
Between 1 in 16,000 and 1 in 60,000.
ETIOLOGY
Autosomal dominant inheritance (Fibrillin (FBN1) mutation in chromosome number 15q21).
KEY FEATURES
Skeletal
Tall stature, long cylindrical limbs (arm span longer than the height), distance from pubis
symphysis to heel is greater than distance to crown. The skeletal abnormalities present are
Arachnodactyly, pes planus, joint laxity with scoliosis in 60 percent kyphosis. Pectus excavatum
or carinatum. Flexing thumb in the fist, the thumb crosses the ulnar border of palm is called as
Thumb Sign (Steinbergs sign).
Eyes
Sublaxation of lens usually upward with defect in suspensory ligament. Myopia and retinal
detachment.
Figs 8.14A and B: Marfans syndrome: (A) Note tall thin habitus with arachnodactyly. (B) Steinbergs sign
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Cardiovascular
Dilatation of aortic root, with or without dissecting aneurysm of ascending aorta. Mitral valve
prolapse and regurgitation.
Other Features
Joint hyperextensibility, scoliosis, kyphosis, narrow face, myopia, retinal detachment, glaucoma,
hernias, large ears, sleep apnea.
FOLLOW-UP MANAGEMENT
Prevention of scoliosis is important during childhood.
To start beta-adrenergic blocking drug as soon as diagnosis of Marfans syndrome is made.
It reduces the incidence of aortic dissection and dilatation.10
Secondary glaucoma has to diagnosed and managed accordingly.
ROBIN ANOMALAD (Fig. 8.15)

SYNONYM
Cleft palate, microphthalmia and glossoptosis and Pierre Robin syndrome.
DEFINITION
This is characterized by the association of micrognathia and glossoptosis. Frequently a posterior
cleft palate or a high arched palate.
Incidence
The frequency is 1:30,000.
Etiology
Sporadic in 40 percent cases. Autosomal dominant and
recessive nature has also been noted.
Embryology
The primary disorder is probably an early hypoplasia of the
mandible. This would lead to posterior displacement of tongue
thus preventing the normal closure of posterior palatine
process.
Fig. 8.15: Micrognathia in Pierre

Robin sequence (Photograph
courtesy Dr Ramesh Bhatt, Manipal)
Pathology
Hypoplasia of mandible causes foreshortening of floor of mouth and reduction of size of the
oral cavity. As a result there is tendency to glossoptosis, which may alter the development of
the palate and lead to a posterior cleft or a high arched palate.
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Associated Anomalies
Forty percent cases are seen as isolated robin anomalad. In 36 percent one or more anomalies
are associated. In 25 percent cases it is associated with known syndrome.
ALBINISM (Figs 8.16A and B)

DEFINITION
It is an autosomal recessive disorder characterized by pigmentary disorder having normal number
of melanocytes but absent or defective tyrosinase activity resulting in diminished or absent
melanin production.
Figs 8.16A to B: Albinism (A) Tyrosinase negative albinism which is characterized by white hairs (B) Tyrosinase
positive albinism, which is more common type, characterized by reddish blonde hairs
Albinism can be separated into those individuals with only eye involvement (Ocular albinism)
and those with eye, skin and hair abnormality (Oculocutaneous albinism OCA). There are
four classes of OCA, with multiple subsets in each class.
The gene locus is in chromosome 15q for tyrosinase positive albinism (TPA) and in
chromosome 11q for tyrosinase negative albinism (TNA).
Hair bulb incubation test: It is a laboratory method for identifying TPA and TNA types of
albinism. Incubation of hair bulb in L- tyrosine 1mg/ml in 0.1 M phosphate buffer at pH 6.8.
In TPA, melanin production is detected in the hair bulb, in TNA no melanin production is
detected.
Classification of OCA Tyrosinase related OCA1
No tyrosinase activity OCA1A
Residual tyrosinase activity
Yellow OCA 1B
Minimal pigment OCA1MP
Unusual tyrosinase activity
Temperature sensitive OCA1TS
Tyrosinase positive OCA2
Prader Willi/Angelman syndrome
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Clinically color of skin is pink to cream. Hairs are cream to brown color in TPA and
snow-white color in TNA. Ocular manifestations are blue to brown iridae, photophobia,
nystagmus, diminished visual acuity, strabismus.
ComplicationsIt is in the form of sun burn and skin cancers.
TreatmentAvoid sun exposure and adequate application of sunscreen before exposure
to sun. Surveillance of skin cancer and genetic counseling.
HURLERS SYNDROME (Figs 8.17A to C)

INCIDENCE
1 in 100,000 live births.
ETIOLOGY
Autosomal recessive. The primary defect is an absence of lysosomal hydrolase alpha-L
iduronidase (IDUA), it is responsible for degradation of the glycosaminoglycans, heparan sulphate
and dermatan sulphate. The IDUA gene is mapped to chromosome 4p16.3.
PERFORMANCE
Marked mental retardation, normal at birth with progression to syndromic features and
increasingly severe developmental delay.
KEY FEATURES
Scaphocephalis macrodactyly, coarse facies, anteverted nostrils, depressed nasal bridge,
hypertelorism, corneal clouding, enlarge lips claw hands, hernias (umbilical, inguinal).
Figs 8.17A to C: Hurlers syndrome. (A) A five-year-old child with coarse facies, macrocephaly, thick lips,
limitation of extension of both upper and lower limbs (B) X-ray lumbar spine, short and anterior wedging of
thoracolumbar vertebrae. (C) X-ray wristnote the proximal tapering of the metacarpals, coarse trabaculation
and irregular epiphysis
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Other Features
Open mouth, nasal discharge, macroglossia, thick gums, abnormal placed teeth, kyphosis,
short neck, gibbus, hirsutism, hepatosplenmegaly, pectus carinatum and excavatum, characteristic
X-ray finding with coarse trabaculation.
DIAGNOSIS
It is confirmed by clinical diagnosis and biochemical investigation. The excretion of dermatan
sulphate and heparan sulphate in urine, and the absence of alpha- Liduronidase in fibroblast
culture. Antenatal diagnosis is possible by detection of alpha-L-iduronidase level in amniotic
fluid cells.
MORQUIOS SYNDROME (Figs 8.18A and B)

SYNONYM
Mucopolysaccharidosis type IV.
INCIDENCE
1 in 40,000
Types
Type A- Severe form of the disease. There is deficiency of enzyme N-acetylgalactosamine6-sulphatase. Type B is mild form of disease. There is deficiency of Beta galactosidase enzyme.
ETIOLOGY
Autosomal recessive. The type A has been linked to chromosome 16q24.3, type II Morquios
syndrome is linked to chromosome 3p21.33.
Figs 8.18A and B: Morquios syndrome (A) Seven-year-old patient with short neck, short trunk, pectus
carinatum, coarse facies, genu vulgus, kyphosis (B) X-ray spine lateral view note the generalized platyvertebrae
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PERFORMANCE
No mental retardation, normal at birth with progression to syndromic features, shortened life
span.
KEY FEATURES
Mildly coarsened features, (not always present), broad mouth, short neck, with restricted
movement, pectus carinatum, short stature, short trunk, marked platyspondyly, with vertebrae
changing to ovoid with anterior projection, knocked knees.
Other Features
Short anteverted nose, cloudy cornea (late in first decade of life), abnormal teeth (pitting and
enamel hyperplasia), hepatomegaly, short/stubby hands, joint laxity, scoliosis, lumbar lordosis,
tendency to C1-C2 dislocation (with spinal cord compression), progressive hearing loss, aortic
regurgitation (later in life).
DIAGNOSTIC CONFIRMATION
Depends upon two- dimensional electrophoresis or thin-layer chromatography of isolated urinary
glycosaminoglycans. False negative test are seen for urinary mucopolysaccharides, therefore
the deficiency of enzymes in cultured fibroblasts or leukocyte is more specific for confirmation
of diagnosis. Prenatal diagnosis is possible using both amniotic fluid cells and chorionic villi.
PROGERIA (HUTCHINSON GILFORD

PROGERIA SYNDROME) (Figs 8.19A to D)
INCIDENCE
One in 250,000 to 1 in 4,000,000.
ETIOLOGY
Most cases are sporadic. Although there have been a few reports of affected siblings.
PERFORMANCE
No MR Life span in most cases ranges from 12 to 13 years and is due to possible complications
such as atherosclerosis (myocardial infarction or stroke).
KEY FEATURES
Alopecia onset between birth and 18 years. Skin is thin dry, warm (early skin is described as
scleroderma, i.e. thick and inelastic). Facial hypoplasia, with marked micrognathia, thin nose
with sculpted appearing tip, loss of subcutaneous fat (cheeks and pubic area are last to be lost),
head appears large for face, open fontanels, joints are stiff and partially flexed, growth
deceleration 9 between 6 months and 18 months).
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Figs 8.19A to D: Progeria (A) Six-year-old boy with alopecia, deficient growth, facial hypoplasia, micrognathia,stiff
and partially flexed prominent joint Horse riding stance (B) Skin thin with sclerodermatous changes, nails
hypoplastic, brittle curved and yellowish (C) X-ray hip joint coxa vulga (straight femur) (D) X-ray chestAbsent
clavicle
OTHER FEATURES
Typical early sign (mid facial cyanosis), delayed dentition, high-pitched voice, prominent eyes,
thin lip, dystrophic nails (thin, short, and small), and prominent appearing joint. Skin develops
brown spots and pigmentation.
GOLDENHAR SYNDROME (Figs 8.20A and B)

SYNONYM
Facioauriculo-vertebral syndrome, First and second branchial arch syndrome, Hemifacial
Microsomia.
DEFINITION
It is association of non-random defect of the first and second branchial arch, associated with
vertebral and ocular anomalies. These abnormalities are asymmetric and 70 percent cases are
unilateral involvement.
INCIDENCE
The frequency of occurrence is estimated to be 1 in 3000 to 1 in 5000, and there is slight (3:2)
male predominance.
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B
Figs 8.20A and B: Goldenhar syndrome (A) (B) Bilateral limbal dermoid,
hemifacial microsomia left half of face, ear abnormalities
CLINICAL ABNORMALITIES
Face is affected asymmetrically, with ears small and malformed, pre-auricular skin tags. Cervical
and vertebral anomalies are common. Epibulbar dermoid is important diagnostic feature. When
this is absent the term first and second branchial arch syndrome is used. When the face is
affected on only one side without an Epibulbar dermoid then term used as Hemifacial microsomia.
Genetic aspects: Sporadic in most cases. Occasional dominant families are described.
MECKEL GRUBER SYNDROME (Figs 8.21A to C)

SYNONYM
Dysencephalia splanchnocystica.
DEFINATION
This syndrome is describes by Meckel in 1822 and later by Gruber. The diagnostic features are
occipital encephalocele, post axial polydactyly and polycystic kidneys.
ASSOCIATED ABNORMALITIES
Includes microcephaly, hydrocephaly and anencephaly, agenesis of optic chiasma, corpus
callosum, microphthalmia, ear anomalies and others.
GENETIC ASPECTS
Autosomal recessive. The locus is been mapped to 17q21-q24.
ANTENATAL DIAGNOSIS
It is possible to detect MGS Antenatally by elevated alpha-fetoprotein level in the presence of
encephalocele. Antenatal ultrasonography demonstrates paracranial mass, polydactyly.
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Figs 8.21A to C: Meckel Gruber syndrome: (A) Huge occipital encephalocele, postaxial polydactyly
(B) Cleft lip and palate (C) X-ray revealing huge encephalocele
Termination of pregnancy is offered before viability. In third trimester obstetrical management
depends on amount of herniated brain, size of the defect and associated anomalies.
CHARGE SYNDROME (Figs 8.22A and B)

INCIDENCE
Unclear
ETIOLOGY
Sporadic (possible from insult during second trimester).
PERFORMANCE
MR is most cases, early feeding problems.
KEY FEATURES
Coloboma (usually retinal coloboma).

Heart abnormalities (TOF, PDA, VSD, ASD).
Atresia of the choanae.
Retardation (MR and postnatal growth retardation).
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Figs 8.22A and B: Charge syndrome (A) Coloboma of iris at 5 and 7 O clock position
(B) Vertical scar mark of operated VSD, with absence of left depressor angularis oris muscle
Genital hypoplasia (in male, microphallus and cryptoorchidism).

Ear abnormalities (small ears, cup-shaped lop ears, deafness).
Other Features
Microcephaly, facial asymmetry, facial palsy, malar flattening, long philtrum, cleft lip palate,
small mouth, swallowing difficulties, and polyhydramnios.
APERTS SYNDROME (Figs 8.23A to C)

SYNONYM
Acrocephalosyndactyly.
ETIOLOGY
Autosomal dominat. Most of the cases are sporadic and are associated with old paternal age. It
is caused by mutation in the fibroblast growth factor receptor 2 gene (FGFR2) which maps to
chromosome number 10a25-10q26. The recurrence risk for the unaffected parents of a child
with Aperts is negligible, whereas the recurrence risks for the affected individual is 50 percent.
KEY FEATURES
At birth all the cranial sutures are abnormal, apart from lamdoidal, and the head is tower shaped,
flat from front to back with a prominent forehead. Eyes are prominent, the nose beaked and
high arched palate. The hands are characteristic with fusion of digits two to five and sometime
including thumb. Fusion of cervical vertebrae C5-C6 is seen in 70 percent cases. 50 percent
cases shows mental retardation. There is associated polymicrogyria, hypoplastic white matter,
and hetrotropic grey matter.
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Figs 8.23A to C: Aperts syndrome (A) Unusual head shape, brachycephaly,

acrocephaly, proptosis, beaked nose (B) (C) Syndactyly of finger and toes
FUTURE MANAGEMENT
Surgery is indicated for craniosynostosis when there is indication of raised intracranial
pressure.
Early surgery to release the thumb to allow pincer grasp is recommended.
Hearing assessment to be done to detect hearing loss.
Facial and cosmetic reconstruction by plastic surgeon.
DISORGANIZATION-LIKE SYNDROME (Fig. 8.24)

Disorganization-like syndrome is a rare occurrence of multiple congenital anomalies, the spectrum
of which ranges in different studies. The occurrence of these anomalies is difficult to explain
by amniotic bands. It was suggested that these might results from a mutant gene, the homologue
of mouse mutant disorganization (Ds). There is high frequency of limb duplication (usually
involving a single limb), polydactyly, and limb originating from abnormal sites.
Fig. 8.24: Disorganization-like syndrome. 11 Note lumbosacral masswith duplication

of foot. Ref-Indian Pediatrics 2003; 40:268 , with permission.
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KABUKI MAKE-UP SYNDROME (Figs 8.25A to D)

It is characterized by peculiar face, which mimics the make-up of Kabuki, the traditional
Japanese theatre.
It is consists of mental retardation, short stature, long palpebral fissure, outer one third
everted lower eye lids, ptosis, arching of eye brows, epicanthus, short nasal septum,
protuberant ears, cleft palate tooth abnormality, open mouth with tented upper lip giving
myopathic look.
Incurved fifth little finger due to shortening of fourth and fifth metacarpals, they have
prominent fetal pads (prominent fingertip pads) brachydactyly, hip dislocation, sagittal cleft
of vertebral bodies.
Cardiac defects include coarctation of aorta, bicuspid aortic valve, mitral valve prolapse,
membranous VSD, pulmonary, aortic and mitral valve stenosis. Cardiac defects are observed
in about 50 percent of cases.
These cases are said to have sporadic mutation.
Figs 8.25A to D: Kabuki make-up syndrome. (A) 4 years old female patient with characteristic facial feature like
tenting eyebrows, everted outer one third lower eyelids, long palpebral fissure (B) open mouth with tented upper
lip. (C) Note the prominent fingertips (fetal pads). (D) Plain X-ray of hip joint displaying dislocated right femoral
head with pseudoarthrosis
LESCH-NYHAN SYNDROME (Figs 8.26A to D)

This syndrome presents with hyperuresemia, choreoathetosis and self-mutilating behavior.
It is an X-linked recessive disorder with gene location at (Xp26-q27.2). There is deficiency
of Hypoxanthine guanine polyribitol transferase (HGPRT).
Onset is within first few months with developmental retardation, and the full clinical picture
develops before 2 years. The psychomotor retardation is seen by first year. The extra
pyramidal movements are seen by age 8-24 months. The involuntary self-destructive behavior
in the form of biting of the arms, lips are apparent by 4 years.
Few patients have association of anal atresia, Hirschsprungs disease and cryptorchidism.
The investigations consists of elevated serum uric acid, increase in urinary uric acid, the
ratio of urinary uric acid to creatinine ratio of > 3:1 is diagnostic.
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TREATMENT
Allopurinol is used to reduce the hyperuricemia and thus, renal damage is prevented. For selfinjurious behavior resperidone is tried, to allay the anxiety diazepam has been tried, and
carbamazepine or gabapantene as mood stabilizers.
Figs 8.26A to D: Lesch-Nyhan syndrome (A) (B) Picture depicts the extent of facial injury caused
by self-injurious behaior (C) (D) Depicts the choroathetoid movement exhibited by patient
POLAND SEQUENCE (Figs 8.27A to C)

The main features in this syndrome are the presence of following unilateral features.
Hypoplasia to absence of pectoralis major muscle, nipple and areola
Hypoplasia of upper limb with varying degree of syndactyly, brachydactyly, oligodactyly.
Occasionally hemivertebrae, renal anomalies and dextrocardia in left sided Poland
sequence.
Bavinck and Weaver suggested that Poland, Klippel-Feil and Mobius sequences all of which
may occurs in common in same individual, and all should be grouped in the category of
subclavian artery disruption syndrome. It is said that it is due to diminished blood flow in the
subclavian artery, vertebral artery, and their branches during or around the sixth week of
development.12
Figs 8.27A to C: Poland sequence (A) (B) Left Poland sequence

(C) X-ray showing Hypoplastic left limb with digital defects
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OSTEOPETROSIS
(ALBERS-SCHNBERG SYNDROME) (Figs 8.28A and B)
Figs 8.28A and B: Osteopetrosis (A) Photograph showing failure to thrive,

macrocephaly, hepatospleenomegaly (B) X-ray depicting Bone within bone appearance
This is one of the important bone dysplasia displaying increased bone density. There are two
types of osteopetrosis.
Autosomal recessive (OMIM 259700)13
Autosomal dominant (OMIM 166600)
Most of the clinical features due to failure to remodel growing bones. This leads to narrowing
of cranial nerve foramina and encroachment of marrow space, which results in secondary
complications such as optic nerve dysfunction, anemia.
From birth the bones are sclerotic with poor modeling giving appearance of bone within
bone appearance. There is microcephaly, square shaped head, frontal bossing, ptosis and
strabismus.
Treatment: Bone marrow transplantation is successful in some patient. Calcitrol and interferon
gamma has been used with some benefit. Rest all symptomatic treatment.
POTTER SYNDROME (Figs 8.29A and B)

The term Potter syndrome is given to a lethal condition due to bilateral renal agenesis and
death occurs due to pulmonary hypoplasia.
The characteristic facies called as Potter facies and consists of widely placed eyes,
epicanthus, low set ears, nose broad and compressed, receding chin and limb abnormalities.
This condition is picked up in pregnancy when there is severe oligohydramnios,
nonvisualization of kidneys and bladder. The incidence is 1 in 3,000 birth and represents
20 percent of newborn with potter phenotype.
Other causes of neonatal renal failure with Potter phenotype represents cystic renal
dysplasia, obstructive uropathy, autosomal polycystic kidney disease, renal hypoplasia.
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B
Figs 8.29A and B: Potter syndrome (A) Squashed facies, depressed nasal
bridge, low set ears (B) Fullness of abdomen, omphalocele
FIBULAR HEMIMELIA (Figs 8.30A to C)

Deformities of the fibula ranges from mild deficiency of the proximal end of the bone to
complete absence accompanied by multiple malformation of the neighboring structure.
Unilateral deformity is more common than bilateral one.
It is associated with short bowed tibia, absence of lateral rays of foot.
Figs 8.30A to C: Fibular hemimelia. 14 (A) Fibular hemimelia of right limb, note the absent lateral rays, and a
cutaneous dimple corresponds to pseudoarthrosis of tibia (B) Fibular hemimelia of right foot in a newborn. (C) Xray depicting pseudoarthrosis of tibia and absent fibula. R ef- Indian Pediatrics 2003; 40:359, with permission.
PROBOSCIS LATERALIS (Fig 8.31)

Proboscis lateralis is a rare facial anomaly (1:100,000 birth) resulting in incomplete formation
of nose, the eye and adenexa. It consists of a soft, trunk like process that originates from
the medial portion of the orbit roof.
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It is often associated with other malformations of facial region including abnormality of eye
and lacrymal system and facial bone formation.
It is hypothesized that each nostril develops separately and fuses at a later stage to form the
nose. This can explain anomaly seen in this condition.
Antenatal diagnosis of this condition is possible by detection of finger like projection in
area of the eye.
Fig. 8.31: Proboscis Lateralis 15 and complete absence of left nostril
BARDET-BIEDL SYNDROME (Figs 8.32A to C)

The manifestation of this syndrome was first described by Laurence and Moon in 1865, it
was referred to Laurence-Moon-Biedl syndrome, but after 1920 more than 300 cases have
been reported by Bardet-Biedl, hence called now as Bardet-Biedl Syndrome.1
It consists of polydactyly, retinal dystrophy, mental handicap, obesity and hypogonadism.
Polydactyly is postaxial. Although syndactyly, brachydactyly of hands and broad and short
feet are also present.
Ocular manifestations are in the form of retinal dystrophy in 100 percent cases followed by
myopia, nystagmus, glaucoma, posterior capsular cataract, retinitis pigmentosa.16
Mental retardation might not be always there.
The frequency of other abnormalities are obesity 90 percent, diabetes mellitus 50 percent,
hypogonadism in male 88 percent, menstrual problems in female 100 percent, renal problems
are seen in 90 percent cases in the form of calyceal clubbing, cyst or diverticulae, fetal
lobulations, renal cortical loss, renal failure.17
Genetic aspectIt is autosomal recessive but mark variability in expression. Gene linked to
16q13-q22, 11q13 were found in different studies.
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Figs 8.32A to C: Bardet-Biedl syndrome (A) Note the obesity polydactyly and
hypogonadism (B) Postaxial polydactyly and syndactyly (C) Hypogonadism
VATER SYNDROME (Figs 8.33A and B)

The acronym VATERS stands for non-random association of vertebral defects and VSD,
imperforate anus, esophageal atresia with T-E fistula, radial and renal dysplasia, and single
umbilical artery.
Other less frequent defect associated are prenatal growth deficiency, postnatal growth
deficiency, laryngeal stenosis, ear anomaly, defects of lower limb, etc.
Figs 8.33A and B: Vater syndrome (A) Neonate with VATER anomalies
(B) X-ray showing vertebral defect, imperforate anus
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Most of these patients have normal brain function, hence, merit vigorous attempts towards
rehabilitation, surgical and otherwise.
Etiology: Idiopathic mostly, sporadic instances seen in family. More frequently seen in
offsprings of diabetic mothers.
Clinician should note that similar anomalies with more broader pattern are seen in trisomy
18 or del (13q) syndromes, Holt-Oram syndrome and VATER with hydrocephalus, the
prognosis in such cases are guarded. One must rule out their presence before framing the
prognosis.
BLEPHAROPHIMOSIS SYNDROME (Fig. 8.34)

This disease coined its name in the year 1889 by Vignes
as a dysplasia of eyelids. There are two types:
Type Iassociated with infertility in female and
complete penetrance of the altered gene. Type II
transmitted by both male and female and associated
with incomplete penetrance.
There is reduced horizontal diameter of palpebral
fissure, droppy eyelids, a fold of skin, which runs from
lower lid medially and upwards. Flat nasal bridge, ears
may be normal or cup shaped, with normal intelligence. Fig. 8.34: Note blepharophimosis, ptosis
Early milestone appears to be achieved slightly late and epicanthus inversus
because of backward head tilt due to ptosis and blepharophimosis.
There is increase tendency of menstrual irregularities and infertility in female.
Autosomal dominant with gene location to 3q23.
MILROY-HERIDITARY LYMPHEDEMA (Fig. 8.35)

Milroys disease is congenital form of lymphedema, which is usually confined to lower
limbs. The swelling is firm but it does pit on pressure.
The cause of lymphedema is aplasia and hypoplasia of lymphatics.
The condition is autosomal dominant.
Fig. 8.35: Milroys disease. 3 months old infant with bilateral lower limb edema with hypertrophy of penile skin
(Photographs coutesy: Dr Alok Purohit and Dr Sagori Mukhopadhyay (SMS) Hospital Jaipur)
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MACRODYSTROPHIA LIPOMATOSA (Figs 8.36A and B)

Macrodystrophia lipomatosa is a congenital form of macrodactyly seen at birth. It is
progressive condition characterized by an increase in mesenchyme elements, especially the
fibro adipose tissue. The abnormality is always unilateral, and usually in the distribution of
the median nerve (upper extremity) and the plantar nerve (Lower extremity).
B
Figs 8.36A and B: Macrodystrophia lipomatosa18 (A) Macrodystrophia lipomatosa of second toe of right
foot (B) X-Ray of right foot showing localized gigantism of 2nd metatarsal and digits and lipomatosa
around it
Radiographic examination demonstrates macrodactyly including the soft tissue and the bone.
The trabeculae are normal. T1weighted coronal MRI image shows marked proliferation of
adipose tissue. A high signal linear structure with low signal rim along the involved areas
may correspond to a thickened nerve.
Macrodystrophia lipomatosa should be differentiated from other causes of congenital
macrodactyly, hemangioma, Klippel-Trenaunay-Weber syndrome, Olliers disease and Proteus
syndrome.
MAYER-ROKITANSKY-KUSTER-HAUSER
SYNDROME1922 (Figs 8.37A to D)
The MRKH is comprised of vaginal atresia with other Mllerian (i.e., paramesonephric) duct
abnormalities, skeletal abnormalities and renal abnormalities. MRKH is characterized by Mllerian
duct structures agenesis, in genetically, phenotypically and developmentally normal (46XX)
females. It usually remains undetected until the patient presents with primary amenorrhea despite
normal external development. The MRKH is the most common congenital cause of primary
amenorrhea. Although this condition has psychologically devastating consequences, its
physiological defects can be treated surgically. Following diagnosis, surgical intervention allows
patients to have normal sexual function. Reproduction may be possible with assisted techniques.
Incidence statistics vary from 1: 4000 (at birth) to 1:20,000 at female hospital admissions.
EMBRYOLOGY
Around the fifth gestational week, the mllerian ducts stop developing. The skeleton, derived
from the embryonic mesoderm, is vulnerable to developmental disturbances at this time. The
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Figs 8.37A to D: MRKH syndrome: (A) Apparently a pair of ill developed labia majora like structure seen on
standing posture with a protruding mass similar to hypertrophied clitoris was found overhanging the external
genitalia. (B) Congenital absence of thumb. (C) Congenital kyphoscoliosis and absence of widening of pelvis in
the late adolescence. (D) External urethral meatus covered by a structure resembling labio-scrotal folds containing
adequate amounts of rugae with a raphe mimicking the texture of scrotal skin, fused at upper end with a whirling
pattern resembling clitoris. Photographs by Dr Ranbir Pal and Dr Ankur Barua, Sikkim Manipal Institute of Medical
Sciences
uterus, cervix, and upper 75 percent of the vagina form from the fused caudal ends of the
Mllerian ducts. Fallopian tubes develop from the unfused upper ends; the renal system
simultaneously develops from the wolffian ducts. Ovarian function is preserved because the
ovaries originate within the primitive ectoderm, independent of the mesonephros. A gene
responsible for MRKH has not been identified.
COMPONENTS
1. Absence of vagina and rudimentary cornua uteri but morphologically normal ovaries and
fallopian tubes. External features and ovulation are normal but the woman is amenorrheic
and infertile.
2. Urinary tract anomalies, most common being renal agenesis, ectopia and fusion, occurs in
about one-third cases.
3. Skeletal abnormalities are seen in 12 percent cases, 2/3rd of them being abnormalities of
spine, limb and rib. A term MURCS association has been coined to denote Mllerian duct
aplasia, renal aplasia and cervicothoracic somite association (Klippel-Feil type). Other
abnormalities such as congenital heart conditions and inguinal hernia may also be associated.
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PRESENTATION
Primary amenorrhea and cyclic abdominal pain are common. The patient undergoes puberty
with normal thelarche and adrenarche; however, menses do not begin. Because ovarian function
is normal, patients experience all bodily changes associated with menstruation. On examination,
height is normal. The vulva, labia majora, labia minora, and clitoris are normal. Speculum
examination of the vagina may be impossible or difficult because of the degree of vaginal
agenesis.
Infertility Patients who do not undergo evaluation for primary amenorrhea often seek clinical
attention for infertility.
Inability to have intercourse. The more shallow the vaginal canal, the greater the likelihood
of the patient having dyspareunia. Some patients present with a history of voiding difficulties or
recurrent urinary tract infections.
WORK-UP
1. Lab studies: Chromosomal analysis is essential to exclude karyotypic abnormalities of the
X chromosome (e.g., Turners syndrome). Other chromosomal aberrations may include a
46, XY karyotype, suggesting a form of androgen insensitivity syndrome. Normal circulating
levels of human chorionic gonadotropin (HCG), luteinizing hormone (LH), and follicle
stimulating hormone (FSH) indicate appropriate ovarian function.
2. Imaging studies
Sonography: Sonography easily depicts the upper level of the vagina and the length of its
obstruction. It can identify uterine duplications and tubal obstruction. It can rule out a
hydrocolpos or a hydrometrocolpos. It simultaneously assesses the kidneys and bladder.
Magnetic resonance imaging: MRI provides excellent images of superficial and deep
tissue planes, cavitation of the uterus and presence of a cervix.
Laparoscopy: Laparoscopy provides only indirect assessment of uterine cavitation. It is
useful when uterine remnants or endometriosis cause cyclic pelvic pain requiring excision.
MANAGEMENT
The ideal repair provides the patient with an unscarred vagina that allows sexual functioning.
Excision of uterine anlage can also prevent endometriosis and resultant ovarian function
impairment. Frank technique or perineal dilation is the only nonsurgical option and is successful
only in patients with a long rudimentary vagina. Patients apply progressive pressure to the
perineum using a bicycle-seat stool to hold a dilator in place. Compliance is often poor. The
surgical options used are basically to create a neovagina using local skin flaps or/and bowel.
The condition has tremendous psychological impact and the help of a psychiatrist is required.
PROGNOSIS
The patient may have normal sexual functioning after surgical reconstruction. However,
conception cannot occur without the aid of artificial techniques.
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GENETIC COUNSELING
(Courtesy: Dr Amar Verma, Asso. Prof. Pediatrics
Medical College Ranchi, Jharkhand)
DEFINITION
In defining the role of the genetic counselor, it is useful to first define genetic counseling. The
definition use by the American Society of Human Genetics (1975) is very comprehensive.
The American Society of Human Genetics defines2 genetic counseling as a communicative
process which deals with the human problems associated with the occurrence or risk of
recurrence of a genetic disorder in a family. This process involves an attempt by one or more
appropriately trained persons to help the individual or family to: (i) Comprehend the medical
facts including the diagnosis, probable course of disorder and the available management; (ii)
Appreciate the way heredity contributes to the disorder and the risk of recurrence in relatives;
(iii) Understand the alternatives for dealing with the risk of recurrence; and (iv) Choose the
course of action which seems to them appropriate in view of this risk, their family goals, ethical
and religious standards and to act in accordance with that decision to make the best possible
adjustment to the disorder in an affected family member and/or to the risk of recurrence of that
disorder.
The four main components of the role relate to:
1. Communication with clients, both to obtain the family medical history necessary to provide
the client with reliable information, and convey the genetic information in a meaningful and
clear way.
2. Client support, particularly at times of decision-making or particular stress, e.g. after a new
diagnosis has been made in the family.
3. Education of clients and other health professionals.
4. Skills, which enable the genetic counselor to interpret research findings for the benefit of
clients, and to support or conduct appropriate research.
The person who seeks genetic counseling is called the consult and or counsele and the one
who gives it is the counselor. In addition to medical specialists, trained persons with various
backgrounds like nursing, social work education and psychology can function as genetic
counselors.
From the definition, it is clear that the objective of genetic counseling is to make the individual
or the family to understand the scientific information about the disease, thus helping them to
cope with the problem of genetic disorder and to reach a reproductive decision.
Indications for Genetic Counseling
The common indications for genetic counseling in clinical practice are as follows:
1. Presence of congenital malformation(s) in a child or stillbirth or in a fetus.
2. Mental retardation with or without malformations or dysmorphism.
3. Skeletal dysplasiaDisproportionate short stature.
5. Neurodegenerative diseases, e.g., ataxias, leukodystrophy.
6. Myopathy.
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7. Known genetic diseases, e.g., thalassemias, Wilsons disease, hemophilia, mucopolysaccharidosis.

8. Down syndrome and other chromosomal disorders.
9. Relatives of a person with chromosomal translocation.
10. Consanguineous marriage.
11. Advanced maternal age.
12. Exposure to known or suspected teratogen during pregnancy.
13. Any disease if it appears familial.
14. Any unusual disease of skin, eyes, bones, or unusual facial features.
15. Deafness.
16. Familial cancers or cancer prone disease.
17. Ambiguous genitalia or abnormalities of sexual development.
Those who might particularly benfit may include:
Couples who already have an affected child and wish to paln for future pregnancy.
Individuals having disorders themselves and keen to have a family.
Individuals having an affected close relative and want to know the risk on their own family.
Steps in Genetic Counseling
Genetic counseling is a multistep process and involves clinical expertise similar to any other
medical speciality. The steps are history taking, pedigree construction, examination, diagnosis,
counseling and follow up. A standard medical history is required for the proband (affected
individual who draws attention to the family) and for other affected persons in the family.
Pedigree
Next the pedigree (at least 3 generations) is constructed using standardized set of symbols.
Direct questions need to be asked for similarly affected individuals, miscarriages, early deaths,
consanguinity, major and minor malformations.
Examination
A complete physical examination and relavent anthropometric measurements are necessary. In
a case with dysmorphology correct description of facial features, minor malformations, normal
variants need to be noted down. A photographic record of dysmorphic child is essential as it is
much better than a lengthy description. Examination of parents may be needed to verify whether
a dysmorphic feature (e.g., shape of ears) is of diagnostic significance or a normal familial
feature in that family.
Investigations and Diagnosis
The importance of precise diagnosis for genetic counseling can not be overemphasized as there
may be apparently similar looking disorders caused by different genes (genetic heterogeneity)
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or environmental factors. The various hematological, biochemical and imaging investigations

suffice many genetic diseases while for some cases specialized tests like chromosomal analysis,
enzyme assays, aminoacid levels, or molecular studies may be needed.
Indications for Chromosomal Analysis
The usual indications for chromosomal analysis include: (i) Confirmation or exclusion of the
diagnosis of known chromosomal syndromes, for example Down syndrome; (ii) Unexplained
psychomotor retardation with or without dysmorphic features; (iii) Abnormalities of sexual
differentiation and development; (iv) Infertility; (v) Two or more than two monogenic disorders
in a patient; (vi) Monogenic disorders associated with mental retardation and/or dysmorphic
features; (vii) Recurrent miscarriages or still births; (viii) Multiple malformation syndrome; (ix)
X-linked recessive syndrome manifesting in a female; and (x) Pregnancy at a risk of aneuploidy
because of previous chromosomally abnormal child, maternal serum screening, advanced maternal
age, or abnormality detected on fetal ultrasound scanning.
There is little point performing chromosomal analysis on patients with single congenital
malformation, single gene disorders or with recognizable non chromosomal syndrome. However,
a chromosomal analysis of a clinically obvious Down syndrome child is extremely important,
because depending on the type of chromosomal anomaly, the risk of recurrence may vary from
1 to 100 percent.
DNA Diagnosis
As more and more disease related genes are getting mapped and sequenced, the DNA diagnostic
tests are becoming available for single gene diseases. Currently DNA diagnosis for Thalassemia,
Hemoglobinopathies, Hemophilia, Duchenne muscular dystrophy, Fragile-X-mental retardation
and Spinal muscular atrophy are available in India. For providing prenatal diagnosis, the DNA
diagnosis of the affected child in the family needs to be done before hand.
Investigations of Family Members
A careful clinical examination and investigation of parents and family members for mild
manifestations can be of great use in genetic counseling as variable expression is characteristic
of many autosomal dominant conditions; for example, parents of a child with tuberous sclerosis
or neurofibromatosis. If one of the parents is having any feature of tuberous sclerosis, then the
risk of recurrence is 50 percent while in case both the parents are normal, there is no significantly
increased risk of recurrence. Similarly, a single central incisor in a parent of a child with
holoprosencephaly will suggest autosomal dominant inheritance.
Syndrome Diagnosis
Multiple malformation syndromes with or without mental retardation is an important group of
patients needing genetic counseling. With an evergrowing list of syndromes, reaching an exact
diagnosis may be difficult. The situation is greatly helped by various computerized databases,
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namely, London Dysmorphology Database and Pictures of Standard Syndromes and Undiagnosed
Malformations (POSSUM). Referring to the books giving detailed descriptions of syndromes
and diagnostic approaches is also of great help.
Counseling
Accurate diagnosis is of paramount importance for meaningful genetic counseling. Other requisities
are a quiet, comfortable room and adequate time. The counselor should be a good sympathetic
listener with good communicative skill. He should give information in simple nontechnical and
local language. Counseling needs to include all aspects of the condition and the depth of
explanation should be matched to the educational background of the couple. Natural course of
the disease and treatment (sometimes only supportive) should be highlighted. The risk of
recurrence should be explained, if necessary with the help of diagrams. The risk, for example
1 in 4 should be explained in both ways, i.e. 1 in 4 and 25 percent. It should be made clear that
there may be 2 or 3 or more consecutively affected children in a family as chance does not have
memory. The probability can be explained by an example of tossing a coin or like. It is often
useful to compare this recurrence risk against the general population risk for the condition and
for common birth defects. It should be stressed that any family can have children affected with
genetic diseases or congenital malformations and parenting such a child or carrier status for
genetic disease is not a stigma nor should be considered a discriminating factor. A common
misconception about heredity may also need to be dispelled.
Postcounseling options-role of counselors is limited to providing options but they must
sincerely help the family during investigations and final decision.The last and the most important
part of the counseling is about reproductive options. Depending upon the parents judgment
about the risk of recurrence, they may go for contraception, adoption, in vitro fertilization or
further pregnancy with or without prenatal diagnosis. The family may need to be referred to a
genetic center for getting the latest information about the disease and facility for prenatal diagnosis.
REFERENCES
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2005; 42:389.
2. Saldino RM, Noonan, CD. Severe throracic dystrophy with striking microlmelia, abnormal osseous
development, including spineand multiple visceral anomalies. Am.J.Roentgenol, 1972; 114:257.
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selbastandigen Syndrome? Z. Kinderheilkd, 1971; 111:118.
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6. Young RS, Pocharzevsky R, Leonicus JC, et al. Thanatophorus dwarfism and clover leaf skull
(Kleeblattschadel), Raidiology, 1973; 106:401.
7. Anoop Verma, HS Gurudatta. Jeune Syndrome; Indian Pediatrics 2004;41:954-55. With permission.
8. Scott, CI. Achondroplastic and Hypochondroplastic dwarfism; Clinical orthopaedic and related research
1976; 114:18.
9. Murdoch JL, Walker BA, Hall JG, et al. 1970. Achondroplasia- a genetic and statistical survey, Annals of
Human Genetics, 1070; 33:227.
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10. Salim MA, et al. Effect of beta-adrenergic blockade on aortic root rate of dilatation of in the Marfan
syndrome. Am.J. Cardiol 1994; 74:629.
11. Anoop Verma Disorganization-like Syndrome Indian Pediatrics 2003; 40:268. With permission.
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13. Nelsons Text book of pediatrics, 17th edition, Chapter 687, Osteopetrosis, 23333.
14. Anoop Verma, Shirish Yadu; Fibular hemimelia Indian Pediatrics 2003; 40:359. With permission.
15. Anoop Verma, Nirved Jain. Proboscis Lateralis Indian Pediatrics 2005; 42:607. With permission.
16. Smiths Recognizable Pattern of Human Malformation, 5th edition, Bardet-Biedle Syndrome page 590.
17. Color atlas of Congenital Malformation Syndromes, Michael Baraitser and Robin M Winter, Bardet-Biedle
Syndrome, 1996; 162.
18. Anoop Verma, Yadu S. Macrodystrophia lipomatosa, Indian Pediatrics, 2003; 40(17):363-64. With
permission.
19. Graziano K, Teitelbaum DH, Hirschl RB: Vaginal reconstruction for ambiguous genitalia and congenital
absence of the vagina: A 27-year experience. J Pediatr Surg 2002; 37(7):955-60.
20. Rosenberg HK, Sherman NH, Tarry WF: Mayer-Rokitansky-Kuster-Hauser syndrome: US aid to diagnosis.
Radiology 1986; 161(3):815-9.
21. Tolhurst DE, van der Helm TW: The treatment of vaginal atresia. Surg Gynecol Obstet 1991; 172(5):40714.
22. Hensle TW, Kennedy WA. Abnormalities of the female genital tract. Pediatric Surgery, V edn. Ed. ONeill,
et al. Mosby 1998; 1819-33.
23. Rimoin DI, Conner JM, Pyretiz RE (Eds): Emery and Rimoins Principles of Medical Genetics, 3rd Ed.
New York, Churchill Livingstone, 1997; 31:277-767.
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25. Chakravorty Amit: Screening and Diagnosis of fetal Malformation: Eds: Debdas AK 1st Edition, 2004;
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29. Emerys elements of Medical genetics, Robert Muller, Ian Young, 10th Edition, Churchill-Livingstone:
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30. Harper PS. Practical genetic counseling : 4th Edition, Butterworth-Heinemann, Oxord.
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Chapter
Miscellaneous
Conditions
TETROLOGY OF FALLOT (Figs 9.1A to D)

DEFINITION
This is the most common cause of cyanotic congenital heart disease. There are four cardinal
features.
Large outlet VSD.
Overriding aorta with respect to the ventricular septum.
Right ventricular outlet obstruction (infundibular vavular pulmonary stenosis).
Right ventricular hypertrophy.
SYMPTOMS
Most of the patients are diagnosed in the first two-month of age following identification of
murmur. Few patient present with severe cyanosis the first few days of life.
The classical description of severe cyanosis, hypercynotic spells and squatting on exercise
developing in late infancy is now rare.
It is important to recognize hypercynotic spells, as they may lead to myocardial infarction,
cerebrovascular accidents and even death if left untreated. They are characterized by a
rapid increase in cyanosis, usually associated with irritability or inconsolable crying, because
of severe hypoxia, and breathlessness and pallor because of tissue acidosis.
SIGN
Clubbing of the fingers and toes in older children.
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Figs 9.1A to D: Tetrology of Fallot (A) Ten-year-old child with clinically obvious central cyanosis (B) Clubbing of
fingers (C) Classical X-ray finding consistent with wooden shoe or boot shaped Coeur en sabot heart (D)
Peculiar position in bed during sleep, similar to sqatting episode adopted by patient
A long, loud ejection systolic murmur is best heard in the third left intercostals space,
usually with single second heart sound.
As with increase in right outflow tract obstruction the murmur will shorten and cyanosis
will increase.
INVESTIGATION
Chest X-Ray
Shows upturned cardiac apex, absent pulmonary shadow at the left cardiac border, oligemic
lungs field with right aortic arch in few cases.
ECG
Shows right axis deviation and right ventricular hypertrophy.
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Echocardiography
This will demonstrates the cardinal features. But cardiac catheterization may be required to
show the detailed anatomy of pulmonary arteries, which may be small or stenosed.
CT Scan
In case cerebral abscess is suspected.
MANAGEMENT
Palliative Surgery
Infants who becomes symptomatic in first few month. Surgery is inclined to improve pulmonary
blood flow. This is done by placement of an artificial tube between the subclavian artery and the
pulmonary artery (Modified Blalock-Taussig shunt).
Corrective Surgery
It is performed around six months of age. It involves closing the VSD and relieving right
ventricular outflow tract obstruction with an artificial patch. The operative risk is approximately
2 to 5 percent.
Managing Cyanotic Spells
Hypercyanotic spells are usually self limiting and followed by a period of sleep. If it is prolonged
more than 15 minutes, should require prompt treatment.
Sedation and pain relief (morphine is excellent).
Knee chest positionIn small infant this can be achieved by strapping the bent legs to the
abdomen (Squatting while supine).
Intravenous propranolol, which probably works both a peripheral vasoconstrictor and by
relieving the subpulmonary muscular obstruction that is the cause of reduced pulmonary
blood flow.
Sodium bicarbonate: 1ml/kg of 7.5 percent solution after establishing oxygen to correct
acidosis.
PREVENTION OF FUTHER EPISODES
Prevention of precipitating factors treating fever and dehydration on time and adequately.
Correct anemia with iron.
Beta-blockers. Oral propranolol 2 mg/kg/d in four divided doses continued till surgery.
The dose should be increased till the heart rate is reduced to minimum possible heart rate
for age up to 4 mg/kg/d.
Prophylaxis for endocarditis is mandatory.
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CONGENITAL PTOSIS (Fig. 9.2)

Congenital drooping of one or both eyelids is relatively
common, Unilateral being 70 percent out of all.
Etiology is unknown but it doesnt have familial tendency.
Congenital ptosis is easily missed in early childhood and
is picked up late in life and is often labelled as acquired.
It is sometime associated with miosis which raises the
possibility of Horners syndrome.
It is also an association with Jaw winking phenomenon
or Marcus gun phenomenon.
Congenital ptosis has to be differentiated from acquired
ptosis. Miosis responds with pharmacological agents in
congenital ptosis and also not associated with any extra
ocular muscle paresis.
ManagementEarly corrective surgery is useful in
elevating the lid to improve the appearance.
Fig. 9.2: Left congenital ptosis
CONGENITAL CATARACT (Fig. 9.3)

The presence of cataract with in first three month of life is said to be congenital cataract.
In about one third cases the cause is intrauterine infection, but at present this percentage is
declining due reduction in rubella embryopathy.
In another one-third cases cataract is due to genetic and
chromosomal disorders. Around 10 percent in trisomy
13 and 18 and 21.
The patient of Turners syndrome, cataract appears in
40 percent cases by puberty.
Clinically small cataracts are not easily detected. Large
cataract occupies the pupil and hampers the vision.
Cataract may remain stationary and often progresses.
Always search for other congenital anomalies like aniridia,
coloboma, and microphthalmia as it is seen in 40 percent
cases.
Diagnosis of congenital cataract depends on its etiology.
ManagementRemoval of congenital cataract before age
Fig. 9.3: Congenital cataract
of three month is important to prevent amblyopia.
PERIORBITAL CELLULITIS (Fig. 9.4)

BasicsThe orbital septum is a fibrous membrane running from the periosteum of the
orbital bone to the tarsal plates. It separates the skin and subcutaneous tissue from intraorbital
structures. Although the clinical picture is structures are similar, differentiation of periorbital
(preseptal) cellulitis from orbital (postseptal).
Clinical featuresBoth periorbital and orbital cellulitis presents with warm, tender,
erythematous lid swelling, usually associated with fever and regional lymphadenopathy.
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Periorbital cellulitisThe infection may spread by a break

in the skin (insect bite, laceration, impetigo), with causative
agents being S.aureus or group A Streptococcus. The
infection may spread commonly from ethmoid sinus with
M.catarrhalis, pneumococcus. In sinusitis related cases
there is history of persistent nasal discharge and the upper
eyelid may be affected first and subsequently lower eyelid
is affected. There is mild to moderate conjunctival swelling
and hyperemia with a mucoid to purulent discharge.
Orbital cellulitisThe hallmark of a postseptal infection
is proptosis, chemosis and decreased extracellular mobility
in association with fever. Decreased visual acuity occurs
Fig. 9.4: Periorbital cellulitis
late in the course.
Both these clinical condition has to be differentiated from each other, because more aggressive
management is required in orbital cellulitis. Passively open the eyelid and look for conjunctival
injection, discharge, proptosis, chemosis, and decreased extraocular mobility and check
visual acuity. A non-contrast CT scan is needed to differentiate periorbital and orbital cellulitis
if not possible clinically.
Management Periorbital cellulitesAppropriate antibiotic like cephalexin, cephadroxyl,
cefuroxime, etc. along with warm compresses four times. In cases of orbital cellulites the
patient requires admission and intravenous antibiotic and close monitoring.
RHINOSPORIDIOSIS (Figs 9.5A and B)

It is caused by yeast like organism, Rhinosporidium seeberi, which infects the mucous
membrane of the nose, producing nasal polyps and tumors of the cheeks, conjunctiva,
lacrimal sac, uvula, ear, glans penis and skin.
Friable, highly vascular, sessile and pedunculated polyps may appear on any mucosal surface,
but rarely on the skin.
B
Figs 9.5A and B: Rhinosporidiosis of conjunctiva (A) (B) Note the
sessile mass projecting out from the upper conjunctiva
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When the face and lids are involved, it has to be differentiated from yaws, blastomycosis
and leishmaniasis. Masses of pedunculated, granulomatous polyps containing the fungus
produces painless deformities (unless there is secondary infection) any discharge. The
external ocular membrane and lacrimal passage are readily involved. Even the sclera has
been known to be infected, with the threat of perforation of the eye.
Diagnosis is made by demonstration of sporangia up to 350 mew micron in diameter in
section of excised tissue.
Treatment is essentially surgical.
VITAMIN A DEFICIENCY (Figs 9.6A and B)

Deficiency of vitamin can occur from deficient diet, decreased absorption due to chronic
intestinal disorders and liver diseases, increased requirement in case of infection. Bitots
spots has prevalence of 0.21 percent in all age group in India. Vitamin A deficiency contributes
to 0.04 percent of all blindness.
Clinical features:
The first symptom of vitamin A deficiency is delay in dark adaptation.
Conjunctival xerosis is first clinical sign, which is obvious. The conjunctiva becomes
dry, lusterless and dirty brown in the interpalpebral bulbar conjunctiva. This later on
gives rise to Bitot spot, which is a triangular area of foamy substance on the temporal
area of conjunctiva. It is composed of heaped up sloughed-off keratinised cells and
saprophytic bacilli which collects on conjunctival sac
Keratomalacia is seen in late stage and consists of softening, necrosis and ulceration of
conjunctiva. The WHO classification of Xerophthalmia is depicted in table.
The extraocular manifestation includes follicular hyperkeratosis, toad skin and
phrynoderma. Squamous metaplasia of epithelium is seen as increased susceptibility of
infection.
The diagnosis of vitamin A deficiency is considered in the presence of clinical signs and
serum retinal level of less than 20 mg/dl.
B
Figs 9.6A and B: (A) (B) Bitots spots
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WHO Classification of Xerophthalmia
Classification
Primary sign
XIA
XIB
X2
X3A
Conjunctival xerosis
Bitot spot
Corneal xerosis
Corneal ulceration
Secondary
XN
XF
XS
Night blindness
Fundal changes
Corneal scarring
Treatment- According to WHO xerophthalmia is treated by giving 2,00,000 IU of vitamin

A is given orally on presentation, the following day, and whenever possible, 1-4 week
later. Infants between age group 6 and 12 month should receive the half dose and infant
less than 6 months one quarter of the dose.
National Program on prevention of blindness- recommends 1,00,000 IU of vitamin A
orally between 6 and 11 month preferably at the time of measles vaccination. And children
between 1 and 5 years should receive 2,00,000 IU of vitamin A every six month.
GEOGRAPHIC TONGUE (Fig. 9.7)

It is benign migratory glossitis, is a self-limiting
disease of unknown etiology. It presents as pink to
red, round and irregular shaped area of dekeratinized
and desquamated papillae, with white or yellow
elevated margin in the dorsal and lateral surfaces of
the tongue and a changing pattern (hence, the name).
It is asymptomatic but may be painful when
inflamed.
Fig. 9.7: Benign migratory glossitis
(Geographical tongue)
FISSURED TONGUE (Fig. 9.8)

It is congenital malformation manifested by presence
of multiple fissures on the dorsal aspect of the tongue.
Adequate oral hygiene and regular brushing of the
tongue in important to reduce the bacterial growth
within the fissures.
Fig. 9.8: Fissured tongue
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FOREIGN BODY NOSE (Figs 9.9A and B)

Foreign body found in the nose commonly includes inanimate objects (toys, ear rings, etc.)
vegetable materials and insects.
Nose being the most common site of foreign body impaction in children under three years
of age.
Unfortunately the sign and symptoms of foreign body nose may be subtle and there may be
no clear-cut history of insertion.
Clinical features: It usually presents as unilateral fowl smelling discharge with unilateral
obstruction. The object can be seen in the nose anteriorly, but swelling of the mucosa can
obscure visualization.
Management: Most of the foreign body becomes impacted between the anterior nasal septum
and inferior turbinate. Prior to attempting, restrain the child, and under local anesthesia
spray using 4 percent lidocaine, gentle suction is applied to clear the field. Use nasal speculum
and with alligator forceps the object is removed. Routine use of nasal decongestants and
antibiotics are not required.
Figs 9.9A and B: (A) Patient with unilateral nasal discharge, retracted right nostril is depicting
foreign body inside it. (B) A piece of sponge was taken out from the right nostril
INGESTED FOREIGN BODY (Figs 9.10A and B)

Children swallow an object accidentally e.g. coin, nail small button batteries, etc.
Retrosternal pain, dysphagia, and drooling of saliva may follow or be the presenting complaints.
Physical sign are usually absent, but the tenderness in the low anterior neck may accompany
high impaction.
Plain AP and Lateral X-ray will show densely opaque foreign bodies (coin) or less opaque
objects in a dilated esophagus. The X-ray should include the neck, as the upper esophagus
lies at a level above the sternum.
Removal: By flexible or rigid endoscope, but in both the cases the appropriate grasping
instruments must be available. After removal it is important to inspect the esophagus and
stomach for any residual damage.
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Figs 9.10A and B: (A) Ingestion of coin at upper esophagus. (B) Foreign body nail in the duodenum
Button batteries ingestion poses additional problems, as leaking alkali can ulcerate and
perforate the esophageal wall, and leaking mercury is toxic if absorbed. Removal from
esophagus is, therefore, important and onward passage through the gut (if the battery has
reached the stomach) should be encouraged with metachlorpram.
FOREIGN BODY ASPIRATION (Figs 9.11A to C)

Experimental play easily leads to accidental aspiration or ingestion of foreign bodies in the
toddler and young child. Boys are more prone to do this than girls.
All types of small foreign bodies are able to pass through the upper airway and cords and
lodge in the trachea or main bronchus. Tacks, screws, plastic beads and pen-tops, peanuts
and seeds are common culprits. The essential aspect in timely diagnosis of this potentially
life threatening events is high index of suspicion.
The history is always acute. Spasms of coughing may be associated with stridor, retching
and vomiting. Dyspnea and cyanosis may coexist.
If on presentation, the child has evidence of serious airway obstruction, an immediate
attempt to remove the foreign body may be necessary without the confirmation of its
presence of site.
Figs 9.11A to C: Foreign body bronchus (A) X-ray chest of patient presented with chronic cough with no
history of aspiration, revealed collapse right lower lobe (B) In spite of an adequate antibiotic for 10 days repeat
X-ray shows almost no change, which gives us an indication for diagnostic bronchoscopy (C) Small peanut
taken out from right lower bronchus
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Heimlich maneuver: It involves embracing the childs trunk from behind just below the
rib margin and producing a rapid squeeze with the object of causing a forceful expulsion
of air and foreign body from the lungs. This may be aided by holding the child upside
down. The risk of this procedure is that the foreign body may be forced from a bronchus
only as far as the trachea and result in even more severe obstruction.
Diagnosis: Foreign body impaction produces various symptoms and sign, depending on its
site, duration and extent.
Stridor (inspiratory) and wheeze on auscultation;
Hyper-resonance and overinflation due to air trapping;
Displaced apex beat due to mediastinal shift;
Collapse and consolidation if obstruction is complete and prolong.
Investigation get an X-ray chest PA view in inspiration and expiration. The hyperinflation
of the lung fields is seen due to air trapping on the affected side in expiration. The foreign
body aspiration is much more common on right side.
Bronchoscopy a rigid pediatric bronchoscope with grasping forceps is needed to remove
the foreign body under general anesthesia. Occasionally emergency tracheotomy is sometime
required.
PALATAL PERFORATION1 (Fig. 9.12)

The incidence of syphilis is rising worldwide. In the UK the number of new diagnoses
increased by over 900 percent between 1996 and 2002. The resurgence is most marked in
homosexual men and a series of large outbreaks have occurred particularly in London but
also Manchester, Brighton, Newcastle-upon-Tyne, Dublin and Scotland. Recent interest has
focused on the altered presentation in HIV positive men who are at greater risk of tertiary
stage syphilis and have thus, increased the likelihood of clinicians witnessing its signs and
symptoms.
Mechanism of damage: Syphilis is caused by the spirochaete Treponema pallidum and may
be congenital or acquired.Transmission can occur via direct contact with syphilitic lesions
or infected blood. Entry is gained through epithelial breaks and spread occurs via the lymphatic
and circulatory systems. The incubation period lasts from 10 to 90 days after which the
first two stages are highly contagious. Tertiary syphilis develops 3 to 10 years later in 30 to
40 percent of patients. It results from reactivation in an untreated or inadequately treated
person or from reinfection in somebody previously treated. All features arise from endarteritis
obliterans.
Clinical features: Three stages of syphilis are usually described. Each is associated with
characteristic oral lesions. Primary syphilis uncommonly manifests as an oral chancre.
Secondary syphilis can cause greyish ulceration in snail track or mucous patch formations.
Tertiary syphilis is a non-infective multi-organ stage characterized by a painless localized
granuloma (gumma)1 which classically presents on the midline of the palate. Degradation of
the mass leaves a deep pale ulcer with necrotic rolled margins. Chronic necrosis destroys
the palatal bone to leave a clean perforation. Healing occurs with severe scarring which
causes distortion or destruction of the soft palate and tongue. Systemic complications most
seriously affect the cardiovascular and nervous systems. Aortic aneurysms, as seen in this
case, are rarely seen.
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Diagnosis: The gumma is a granulomatous lesion

characterized by endarteritis obliterans and the absence
of scar tissue contracture. Histological changes can
be non-specific and do not therefore form the basis
of diagnosis. Non-specific serological testing (e.g.
VDRL) indicates active disease and is positive in
untreated tertiary syphilis. Specific tests (e.g. FTA)
remain positive even in treated cases. Other tests may
be appropriate at different stages. Testing normally
extends to current and recent partners and also
checks for other STDs.
Management is two-fold as it requires treatment of
the underlying problem and local treatment of the
perforation. Referral to a Genitourinary physician is
necessary for treatment of syphilis. Penicillin forms
the mainstay of treatment and is supported with
preventive advice and regular sexual health check- Fig. 9.12: Palatal perforation in a patient
suffering from tertiary syphilis
ups. Treatment of late syphilis will not reverse the
tissue damage but it may result in some improvement. Dental management can resume once
the VDRL is negative.
Specific management of the palatal defect may be to do nothing, to seal the defect or to
repair the defect. Obturators are a successful method of managing the speech
and masticatory problems. Surgery is another option but extensive scarring in syphilitic
lesions makes any attempt at palatal repair hazardous. In cocaine abusers surgical intervention
should be delayed for at least one year following confirmation of drug cessation and lesion
stability. The patient should remain under review to check for progressive necrosis.
Reconstruction is again controversial due to the etiology of tissue damage. Ischemia and
necrosis render the tissues more likely to breakdown following surgical repair. The better
option seems to be the non-surgical conservative approach.
Differential diagnosis of palatal perforation.
Group
Trauma
Infections
Neoplasia
Collagen disease
Idiopathic
Other
Examples
Tuberculosis, tertiary Syphilis, typhoid, diphtheria, mucormycosis,
actinomycosis.
Lymphoma, carcinoma, melanoma
Wegeners granulomatosis, SLE
Midline lethal granuloma
Cocaine abuse
EXTRAVASATION INJURY (Figs 9.13A to D)

Extravasation injury is defined as injury caused by intravenous fluid (IV) in the interstitial
space.
IV infiltration can have spectrum of sequelae.
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Figs 9.13A to D: Extravasation injury (A) Gangrene of left great toe and third toe secondary to femoral artery
puncture (B) Gangrene of toes of both feet (C) Extravasation of intravenous fluid causing injury and edema of
dorsum of hand (D) Erythema and cellulitis of temporal skin seondary to extravasation of fluid from scalp vein
needle
Mild reaction including irritation, Erythema and swelling.

Severe infiltration can lead to life threatening ischemia and need for amputation.
Mechanism of damage
The extravasation of normal saline or 5 percent dextrose solution can cause irritation
and pain at the IV site but does not cause significant tissue loss.
Tissue damage may be result of direct cellular injury. Solutions such, as hyperalimentation,
that has an osmolarity greater than serum can alter the osmotic gradient leading to
intracellular fluid overload or dehydration and subsequent cell death and necrosis.
Potassium and Calcium are dangerous as they are not only hypertonic but also causes
precipitation of protein, leading to cell death.
Chemotherapeutic agents often cause injury due to cytotoxic mechanism.
Vasoconstriction leading to tissue ischemia by drugs causing vasoconstriction does cause
extravasation injury.
Immediate treatment: Once extravasation has occurred immediate treatment should be
instituted.
IV therapy should be ceased.
Elevate the limb. 2 percent of 1,800 extravasation injuries progressed to tissue loss if
immediately diagnosed and treated properly.
Application of intermittent ice when combined with conservative measurement was
successful in 85 percent of injuries due to chemotherapeutic agents.
The use of heat and ice is controversial in neonate neither is useful because of tissue
damage.
Wound management depends on whether there is full thickness (with or without eschar
formation) or partial-thickness tissue loss, characterized by blistering and discoloration.
Silver sulfadiazine is advocated for both partial and full thickness wounds. Betadine and
normal saline dressings can also used.
More aggressive intervention: Some author advocates the measure to counteract the effects
of the extravasated material or physically removes from the tissue.
Despite a sizable body of literature, the use of antidote to infiltrated therapeutic agents
remains controversial. The table lists the accepted treatment for number of frequently
extravasated medication. Hyluronidase, phentolamine and nitro-glycerine are the most
common.
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HYALURONIDASE
It is an enzyme that degrades interstitial bonds, thus facilitating diffusion and absorption of
the extravasated fluid.
It is used to counteract wide variety of infiltrated substance.
The usual dose is 15 U/ml administered in aliquots of 0.2 mL around the periphery of the
area of infiltration.
PHENTOLAMINE
An alpha-adrenergic antagonist that has shown to counteract the vasoconstrictive effects of
infiltrated vasopressor such as dopamine and dobutamine.
The dose is 5-10 mg/10 ml of normal saline injected in 0.5 mg aliquots.
NITROGLYCERIN
Topical nitroglycerin has been shown to counter act the vasoconstrictive contribution to
tissue necrosis.
The dose is 4 mm of 2 percent ointment per kg body weight.
Treatment of specific infiltrated substance2
Medication
Treatment
Dose
Aminophylline
Calcium
Dextrose 10%
Hyaluronidase15U/ml
Hyaluronidase15U/ml
Cold compresses
Hyaluronidase15U/ml
Nitroglycerin oint 2%
Hyaluronidase15U/ml
Phentolamine- in neonate
Dilute 2.5 5mg in 10 ml
All others- dilute 5-10 mg
In 10 ml of NS.
Hyaluronidase15U/ml
Hyaluronidase15U/ml
Hyaluronidase15U/ml
Hyaluronidase15U/ml
Hyaluronidase15U/ml
Phentolamine- in neonate
Dilute 2.5 5 mg in 10 ml
All others- dilute 5-10 mg
In 10 ml of NS.
0.2 ml 5 doses
0.2 ml 5 doses
QID 72 hrs.
0.2 ml 5 doses
4 mm/kg
0.2ml 5 doses
in neonate multiple SQ
not to exceed 0.1mg/kg or 2.5 mg
all others multiple 0.5 mg
Inj not to exceed 10 mg.
4 mm/kg q8hr
0.2 ml 5 doses
0.2 ml 5 doses
0.2 ml 5 doses
0.2 ml 5 doses
0.2 ml 5 doses
in neonate multiple SQ
not to exceed 0.1 mg/kg or 2.5 mg
all others multiple 0.5 mg
Inj not to exceed 10 mg
4 mm/kg q8hr
Diazepam
Dobutamine and
Dopamine
Gentamicin
Mannitol
Phenytoin
Potassium salt
Sodium bicarbonate
Epinephrine
*Soft Tissue infiltration injury 412-424Manual of Neonatal Surgical Intensive Care, AR Hansen and M Puder,
2003.
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INTRAOSSEOUS TRANSFUSION (Fig. 9.14)

This provides fast and reliable vascular access in critically ill children. It remains available even
in shock and is indicated in an emergency when other methods are unavailable or unsuitable e.g.
in burns cases. Guidelines are that during CPR in children aged < 6 years should obtain
intraosseous access if cannot achieve reliable venous access after three attempts or 90 secs,
whichever comes first. Intraosseous access has the same benefits in children over 6 years but
access to the anterior tibial marrow is more difficult and other sites such as the lower femur,
iliac crest or sternum should be considered.
Fig. 9.14: Intraosseous transfusion in an 11-month-old patient presented is shock due to dehydration
Complications are rare and include subcutaneous fluid leakage, extravasation from the
puncture site, damage to the bone and infection.
Relative contraindications include fractured limb, local infection or osteomyelitis severe
bone disease, especially osteogenesis imperfecta.
Can achieve high flow rates especially if using a syringe to infuse fluid.
Can give all resuscitation fluids except bretylium.
Gaining intraosseous access: Ideally a sterile procedure using a custom designed needle. However,
can use bone marrow aspiration needle or any 14-20-gauge needle with an internal stylus in an
emergency.3,4
Palpate the access site 2-3 cm distal to the tibial tuberosity on the flat medial surface of the
tibia.2
Prepare skin and infiltrate with lignocaine, if necessary.
Advance needle at 90 degrees through the bone cortex using firm pressure and a rotary
motion (entry into the marrow cavity is felt as a loss of resistance).
Confirm placement by flushing with saline, which should produce free flow with no evidence
of subcutaneous extravasation.
Connect to infusion set with a short extension and three-way tap to reduce traction on
needle. Immobilize access with a dressing and tension relief with adhesive tape between
legs and infusion set.
Obtain venous access as soon as adequate resuscitation achieved.
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SICKLE CELL DISEASE (Figs 9.15 to 9.18A and B)

(Courtesy by Dr Jyotish Patel, MD, Bardoli, Gujrat,
Dr Amar Verma, MD, RIMS, Ranchi, Jharkhand )
Sickle cell disease comprises a group of genetic disorders characterized by the inheritance
of sickle hemoglobin (HbS) from both parents, or HbS from one parent and a gene for an
abnormal hemoglobin or beta-thalassemia from the other parent. The presence of HbS can
cause red blood cells to change from their usual biconcave disc shape to a crescent or sickle
shape during deoxygenation. Upon reoxygenation, the red cell initially resumes a normal
configuration, but after repeated cycles of sickling and unsickling, the erythrocyte is
damaged permanently and hemolyzes. This hemolysis is responsible for the anemia that is
the hallmark of sickle cell disease.
Acute and chronic tissue injury can occur
when blood flow through the vessels is
obstructed by the abnormally shaped red cells.
Complications include painful episodes
involving soft tissues and bones, acute chest
syndrome, priapism, cerebral vascular
accidents, and both splenic and renal
dysfunction. Common causes of mortality
among children with sickle cell disease include
bacterial infections, splenic sequestration crisis Fig. 9.15: A child with Sickle cell disease having
generalized body pain. Observe facial discomfort
and acute chest syndrome.
due to severe pain
Types
The percentage of HbS is helpful for determining type of sickle cell anemia.
Sickle trait, not a disease HbS approx 40 percent
Sickle cell disease HbSC, HbSD, etc. HbS approx 50 percent
Sickle cell disease HbS-beta-plus-thalassemia HbS approx 70 percent
Sickle cell disease HbSS, HbS-beta-zero-thalassemia HbS approx 95 percent
However, for the subtypes of sickle cell disease like HbSC, the important fact is that the
other Hb is able to participate in polymerization with HbS.
Difference in Sickle Cell Trait and the Different Types of Sickle Cell Disease?
Sickle trait can have microscopic hematuria or slight increase in kidney infections. Individuals
with sickle trait can have pain if they go to very high altitudes, greater than 12,000 feet. Other
than these uncommon problems, there should be not health problems from sickle trait. Individuals
with sickle trait may have children with sickle cell disease if their partner also has sickle,
thalassemia, or hemoglobin C trait. People with sickle trait have one gene making HbS and one
gene making HbA, so one would expect equal amounts of HbS and HbA in the RBC. The
unstable property of HbS, however, means that not the entire amount of HbS made in the red
blood cell (RBC) stays floating around in the RBC, because some of the HbS decomposes.
Therefore, the RBC contents for a person with sickle trait has slightly less than 50 percent HbS,
typically something like 55 to 60 percent HbA and 40 to 45 percent HbS. The predominance of
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HbA inhibits and dilutes the ability of HbS to show its polymerization property, and so sickle
trait is not a form of sickle cell disease. People with sickle trait have no anemia, no painful
episodes, no special susceptibility to infection, and no implications for life expectancy.
Life Expectancy in Sickle Cell Disease5
Median survival of individuals of all ages with sickle cell disease based on genotype and sex.1
Males with Hb SS 42 years
Females with Hb SS 48 years
Males with Hb SC 60 years
Females with Hb SC 68 years
Note that this was reported in 1994. Now in 2002 many new advances with the medication
hydrea, the new pneumoccocal vaccine Prevnar, stroke prevention with TCD, and cures with
bone marrow transplants the life expectancy is increasing. Being 50 Years Old with Sickle Cell
Disease.
Symptoms
The clinical course of sickle cell anemia does not follow a single pattern; some patients have
mild symptoms, and some have very severe symptoms. The basic problem, however, is the
same: the sickle-shaped red blood cells tend to get stuck in narrow blood vessels, blocking the
flow of blood. This results in the following conditions:
Hand-foot Syndrome
When small blood vessels in hands or feet are blocked, pain and swelling can result, along with
fever. This may be the first symptom of sickle cell anemia in infants.
Fatigue, Paleness, and Shortness of Breath
These are all symptoms of anemia or a shortage of red blood cells.
Fig. 9.16: A patient with Sickle cell disease had severe abdominal pain. Surgeon thought it due to acute
appendicitis. He was operated and pain did not disappear after surgery. He was referred for expert opinion. He
was a case of Sickle cell disease (SS) with painful crisis. He recovered with medical line of treatment
SUBASH/NMC15-1393
236
Fig. 9.17: On right is an elder brother with SS, he is primary teacher. Younger sib also has SS, he studies in 9th
std. Family responsibility lies with elder one alone. Parents are old. Economic crisis is a major threat for regular
follow-up
Pain that Occurs Unpredictably in Any Body Organ or Joint

A patient may experience pain wherever sickled blood cells block oxygen flow to tissues. The
frequency and amount of pain vary. Some patients have painful episodes (also called crises)
less than once a year, and some have as many as 15 or more episodes in a year. Sometimes pain
lasts only a few hours; sometimes it lasts several weeks. For especially severe ongoing pain, the
patient may be hospitalized and treated with painkillers and intravenous fluids. Pain is the principal
symptom of sickle cell anemia in both children and adults.
Figs 9.18A and B: Sickle cell arthropathy (A) Look at bent little finger on both side.
(B) Shortening of left lower limb due to avascular necrosis of head femur
Eye Problems
The retina can deteriorate when it does not get enough nourishment from circulating red blood
cells. Damage to the retina can be serious enough to cause blindness.
Jaundice
Jaundice is seen due to chronic hemolysis.
Delayed growth and puberty in children is caused by chronic anemia.
SUBASH/NMC15-1393
237
MANAGEMENT ISSUES6
Acute illness in sickle cell disease: Acute illness is characterized by any of the following sign
and symptoms listed below.
1. Temperature > 38.5.
2. Pain inadequately relieved by home measures.
3. Significant respiratory symptoms.
4. Abdominal pain, distension and acute enlargement of spleen.
5. Any neurological sign and symptoms.
6. Significant increase in pallor, fatigue or lethargy.
7. Priapism episode persisting > 3-4 hr
8. Significant diarrhea and vomiting.
Pain Management
Mild to moderate
Acetaminophen with codeine 1 mg/kg po (then q 4hr) and oral fluids.
Consider starting ibuprofen 10 mg/kg po q 6-8 h or other anti-inflammatory agent if no
contraindication present. Limit more frequent dosing to 72 hrs duration.
Moderate to severe
Morphine 0.1-0.15 mg /kg IV. Reassess the pain q 15-30 min. Patients with severe pain may
require repeated doses of morphine 0.02-0.05 mg/kg IV q 15-30 min.
Alternative analgesic such as hydromorphine 0.015-0.02 mg/kg IV may be appropriate.
Ketorolac 0.5 mg/kg (30 mg maximum dose) IV may be used. Do not use ibuprofen with
ketorolac.
Fluid of choice in prevention of Painful crisis: We recommend water as the drink of choice
during an episode of sickle cell pain. The rationales are:
1. Sickle red blood cells tend to be dehydrated,
2. Test tube studies show that adding water to the sickle red blood cell can lower the hemoglobin
concentration and decrease sickle polymer formation.
3. A study from the 1960s showed that giving IV fluid without electrolytes (5% dextrose in
water, abbreviated D5W) or low in electrolytes (D5 1/4 normal saline) was better than IV
fluid with electrolytes for sickle cell crisis patients hospitalized for crisis.
4. Kidney damage from sickle cell makes it harder to excrete sodium than the average person,
so that continuously adding too much salt to the body may worsen the dehydration of the
sickle red blood cells and increase sickle polymer formation.
5. Too much water given IV (in the vein) may cause problems with edema of the lungs or
brain, so IV overhydration is not a good idea. A combination of IV and oral fluid intake is
preferred, because the patients hormonal control of thirst can keep electrolytes and volume
from getting too far out of line.
SUBASH/NMC15-1393
238
Blood Transfusion Therapy for Acute Complications

Indications
Acute exacerbation of base line anemia.
Aplastic crisis
Sleenic sequestration
Hepatic sequestration
Hyperhemolysis
Severe vaso-occlusive events
Acute chest syndrome
Stroke
Severe infection
Acute multiorgan failure syndrome
Preparation for procedures
General anesthesia
Radiographs with ionic contrast.
Choice of transfusion products: Leukocyte depleted, packed red cell are recommended. Where
available, minor- antigen-matched, sickle-negative cells are preferred.
Volume considerations: Simple transfusion with 10 cc/kg of packed RBC typically raises the
hemoglobin level to about 2 gm/dl. Patients with aplastic crisis where anemia develops over
several days volume over load has to be watched, in such cases, Packed cells 4-5cc/kg has to
be planned along with frusemide.
Hyperviscocity: A simple red cell transfusion that increases the hemoglobin levels to >10-11gm/
dl posses the risk of hyperviscocity, especially when the baseline hemoglobin level are more.
Management of vaso-occlusive pain: The vaso-occluive pain has to be controlled as mentioned
above. Antibiotics as Cefotaxime or cefuroxime 50 mg/kg IV q 8 hrly if febrile. Substitute
clindamycin 10 mg/kg IV q 6 hrly for known or suspected cephalosporin allergy. Consider
Vancomycin in severe infection or suspected CNS infection. Oxygen by nasal cannula to keep
saturation above 92 percent, avoid excess of oxygen to avoid suppression of reticulocyte count
and aggravation of anemia. The analgesics may be weaned as tolerated by decreasing dose, not
by prolonging the interval between doses.
HOW TO DIFFERENTIATE ??
V.O. CRISIS v/s SEQ.CRISIS
Fig. 9.19: In vaso-occlusive crisis liver and spleen size will decrease.
In sequestration crisis liver and spleen size will be enlarged
SUBASH/NMC15-1393
239
Management of acute chest syndrome: An acute chest syndrome is defined as acute illness
associated with lower respiratory symptoms, hypoxemia, or new infiltrates on CXR. It is
managed by supplementation of Oxygen to keep oxygen saturation above 92 percent. Analgesics
like acetaminophen or ibuprofen or morphine according to severity of pain. Antibiotics like
Cefotaxime or cefuroxime 50 mg/kg IV q 8 hrly if febrile. Substitute clindamycin 10 mg/kg IV
q 6 hr for known or suspected cephalosporin allergy. Strongly consider adding Vancomycin
10-15 mg/kg IV q 8 hr for severe illness like large infiltrate or pleural effusion. Consider
bronchodilator if wheezing is present. Blood transfusions and positive pressure ventilation as
per required in individual cases.
Management of acute splenic sequestration: An acute illness associated with hemoglobin 2gm/
dl or more below patients base line value with acutely enlarged spleen. Mild to moderate
thrombocytopenia is often present. Retics count equal or greater than base line. A low retics
count indicate coexisting aplastic crisis. Apart from the other aspects of management like
antibiotics, oxygen and vital monitoring, it is managed by transfusion of packed red cells 10 ml/
kg for hemoglobin < 4 5 gm /dl and/or signs of cardiovascular compromise. A post transfusion
level of hemoglobin should be 8-9 gm/dl to avoid the hyperviscocity that may occur several
days later sequestrated red cells return to the circulation.
Hydroxyurea: The first effective drug treatment for adults with severe sickle cell anemia was
reported in early 1995, when a study conducted by the National Heart, Lung, and Blood Institute
showed that daily doses of the anticancer drug hydroxyurea reduced the frequency of painful
crises and acute chest syndrome. Patients taking the drug needed fewer blood transfusions.
Sickle Cell Anemia and Current Research 7,8
The oxygen requirements of a fetus differ from those of an adult, and so perhaps not surprisingly,
prenatal blood contains a special hemoglobin. Fetal hemoglobin contains two gamma globin
polypeptide chains instead of two adult chains. After birth, the genes encoding globin
switch off, and the ones encoding globin switch on. Understanding how this genetic switch
works could allow researchers to understand much about the control of genes in general and
sickle cell anemia in particular.
Some infants whose mothers suffered from diabetes during pregnancy have unusually high
concentrations of the biochemical butyrate in their blood plasma. Butyrate is a natural fatty acid
that stimulates RBCs to differentiate from their precursors (reticulocytes). Butyrate also prevents
the globin gene from switching off and the globin gene from switching on in these infants,
who are healthy despite lacking adult hemoglobin. When butyrate is given to patients globin
mRNA levels in reticulocytes increase significantly. Perhaps butyrate or other chemicals
(Decitibine, Magnesium sulphate, Clotimazole, Poloxamer 188, Nitirc oxide) that stimulate fetal
hemoglobin production could be used to treat sickle cell anemia.
SUBASH/NMC15-1393
240
REFERENCES
1. British Dental Journal 2005;199:267-69. doi: 10.1038/sj.bdj.4812650.
2. Care of the Critically Ill Child. Macnab A et al. Churchill Livingstone.
3. Boon JM, Gony DL, Meiring JH. Finding an ideal site for intraosseous infusion of the tibia: an anatomical
study. Clin Anat 2003;16(1):15-8.[abstract]
4. Daga SR, Gosavi DV, Verma B. Intraosseous access using butterfly needle. Trop Doct 1999;29(3):1424.[abstract]
5. Platt OS, Brambilla DJ, Rosse WF, et al. Mortality in sickle cell disease- Life expectancy and risk factors
for early death. N Engl J Med 1994; 330(23):1639-44.
6. Anupam Sachdeva, Dr SP Yadav, Dr NK Pati, Dr Bharat R Agrawal. Draft Guidelines for the management
of Sickle Cell Disease in Children and Adolescents, for and on behalf of Pediatric Hematology Oncology
(PHO) chapter of IAP, 2005.
7. Karlsson, S. The first steps on the gene therapy pathway to anti-sickling success. Nature Medicine 2000;
6: 139-40.
8. Lewis R. Human Genetics: Concepts and Applications, 3rd ed., 334-35, WCB/McGraw-Hill, Boston.
SUBASH/NMC15-1393
Index
A
Abscess 81
Achalasia cardia 94
Achondrogenesis 186
Achondroplasia 189
Acne neonatorum 53
Acrodermatitis
enterohepatica 27
Acyclovir 6
Acute dystonic reaction 178
Adenoma sebaceum 154
Aganglionic megacolon,
congenital 105
Agenesis of corpus callosum
173
Albendazole 12
Albers-Schonbergs
syndrome 207
Albinism 196
Alopecia 16
Alopecia areata 18
Ambiguous genitalis 78
Amniotic band 58
Anagen effluvium 17
Anaphylactoid purpura 20
Anencephaly 171
Angelman syndrome 166
Anogenital wart 7
Anorectal malformation 108
Anus-Imperforate 108
Aperts syndrome 203
Aplasia of depressor anguli
oris muscle 57
Arachnodactyly Marfan
syndrome 194
Ascaris lumbricoides 12
Asphyxiating thoracic
dystrophy 188
Asymmetric crying facies 57
Ataxia telangiectasia 156
Atopic dermatitis 15
Autoimmune thyroiditis 76
Baby of diabetic mother 54

Balanoprosthitis 115
Bardet-Biedl syndrome 209
Barium enema,
Intussusception 104
Beckwith-Weideman
syndrome 56
Bells palsy 161
Birth trauma 62
Bitot spot 225
Bladder extrophy 123
Blepharophimosis
syndrome 211
Brachydactyly 145
Breast abscess, neonate 50
Bullous impetigo 54
C
Caf au lait spots 152
Candidiasis oral 60
Caput succedaneum 49
Cataract 223
Cephalohematoma 48
CHARGE syndrome 202
Chickenpox (varicella) 4
Circumcision 116
Claustradium tetani 9
Clavicle fracture 62
Cleft lip 87
Cleft palate 87
Cliniodactyly 180
Club foot 143
Collodion baby 32
Coloboma 202
Collar-stud abscess 8
Condylomata accuminata 7
Congenital
cataract 223
club foot 143
club hand 144
Hypertrophic
pyloric stenosis 95
hypoplasia of
depressor anguli oris
muscle 57
hypothyroidism 74
diaphragmatic
hernia 111
melonocytic
nevus 40
ptosis 223
scoliosis 148
syphilis 60
twin 128
Cushings syndrome 73
Cutis laxa 35
Cutis marmorata 48
Cutis marmorata
Telangiectatica
congenita 25
Cutis Verticis Gyratus 157
Cystic hygroma 84
Cysticercosis 159
D
Dermatofibroma 40
Dermatographism 39
Dermatitis
atopic 15
seborrheic 22
Dermoid cyst 83
Diaphragmatic hernia 111
Digital abnormalities 144
Disorganization-like
syndrome 204
Down syndrome 179
Drug reaction
erythema multiforme
major 18
erythema multiforme
minor 18
Duodenal atresia 97
Duchenne muscular
dystrophy 167
SUBASH/NMC15-1393
242
Dysencephalia
splanchnocystica 201
Dystonia, drug induce 178
Dystopia canthorum 159
Dwarf, achondroplasia 189
E
Ear anomalies 69
Ebstein pearl 47
Ectodermal dysplasia 42
Ectopia vesicae 123
Ectrodactyly 146
EEC syndrome 146
Ectropion 32
Edwards syndrome 181
Empyema thoracic 132
Encephalocele 201
Endemic parotitis, see
Mumps 3
Epibulbar dermoid 201
Epicanthic folds 179
Epidermolysis bullosa 26
Epignathus 67
Epispadias 123
Erbs Duchenne palsy 63
Erythema multiforme
major 18
Erythema toxicum 45
Eventeration of
diaphragm 114
Exomphalus major 91
Extravasation injury 230
Extrophy of bladder 123
F
Facial asymmetry 57
Facial nerve palsy 57
Facio-auriculo-vertebral
syndrome 200
Fibroma, periungual 154
Fibular hemimelia 208
Fissured tongue 226
Flea bitten dermatitis 45
Foreign body
aspiration 228
ingested 227
nose 227
G
Gama benzene
hydrochloride 30
Gastroschisis 92
Genetic counseling 215
Geographical tongue 226
Goldenhar syndrome 200
Greenstick fracture 147
Guttate psoriasis 31
Gynecomastia 71
H
Hair cycle 16
Hairline, low in Turner
syndrome 192
Hair tourniquet syndrome 117
Harlequin fetus 33
Head lice (see Pediculosis
capitis) 30
Hemangioma 23
capillary 23
cavernous 23
Hemorrhagic disease of
newborn 64
Henoch-Scholein purpura 20
Hernia
Diaphragmatic hernia 111
inguinal 88
lumbar 90
umbilical 89
Herpes zoster 13
Hetrochromia 159
Hirschsprungs disease 105
Human tetanus
Immunoglobulin 10
Hurlers syndrome 197
Hydatid disease 11
Hypomelanosis of Ito 43
Hypothyroidism 74
Hypoxic spells 220
I
Icthyosis vulgaris 34
Idiopathic precocious
puberty 72
Incision and drainage 82
Infantile hypertrophic pyloric
stenosis 95
Inguinal hernia and
hydrocele 88
Iniencephaly 172
Intraosseous transfusion 233
Intussusception 104
Ivermectin 30
Jeune syndrome 188

Joubert syndrome 175
Junctional nevus 47
Juvenile xanthogranuloma 42
Kabuki makeup
syndrome 205
Kasabach-Merritt
syndrome 24
Kawasaki disease 11
Klinefelters syndrome 78
Klippel-Trnaunay-Weber
syndrome 158
Kocher-Debre-Semelaigne
syndrome 75
Koplicks spot 1
Labial adhesion 116

Large head 172
Laser, vascular specific pulse
dye 25
Lesch-Nyhan syndrome 205
Lissencephaly 174
Lobster Claw defect (see
ectrodactyly) 146
Lop ear 69
Lumbar hernia 90
Lupus vulgaris 9
Macrocephaly (see large

head) 172
Macrodystrophia
lipomatosa 212
Majewski dysplasia 184
Malrotation 99
Marcus-Gunn
phenomenon 162
Marfans syndrome 194
Mastitis neonatorum 50
Mayer-Rokitansky-KusterHauser syndrome 212
Measles 1
SUBASH/NMC15-1393
243
Index
Measles vaccine 3
Meckel Gruber syndrome 201
Meningoencephalitis 3
Microcephaly 172
Micropenis 77
Milia 47
Mili crystallina 52
Miliaria rubra 53
Milroy-heriditary
lymphedema 211
MMR vaccine 3
Molluscum contageosum 6
Mongolian spot 46
Morquios syndrome 198
Multiple cartilaginous
exostoses 147
Mumps 3
Myasthenia gravis 163
Necrotizing fasciitis 6
Neurocysticercosis 159
Neurocutaneous
syndrome 150
Neurofibromatosis 151
Type I 151
Type II 152
Nevus
congenital melonocytic 40
giant congenital pigment
nevus 41
giant pigmented hairy
nevus 41
junctional nevus 47
small congenital 41
Nevus of ITO 26
Nevus of OTA 25
Neonatal teeth 51
Neonatal hymenal tag 51
Neonatal vaginal bleed 51
Neural tube defect 168
spina bifida 168
meningomyelocele 169
sincepital
meningoencephalocele 170
Nikolski sign 20
Noonans syndrome 193
Non immune hydrops 66
Nuchal skin thickening 192
O
Ophthalmia neonatorum 68
Omphalocele 91
Osteogenesis imperfecta 141
Osteopetrosis 207
Oral thrush 60
Orchitis 3
Palatal perforation 229

Papular urticaria 38
Paraphimosis 116
Parasitic twinning 131
Parotitis, epidemic 3
Parotitis, recurrent 4
Parry-Romberg
syndrome 157
Pataus syndrome 182
Pediculosis capitis 30
Periorbital cellulitis 223
Periungual fibroma 154
Permethrine 29
Phenytoin-Induced Gingival
Overgrowth (PIGO) 177
Phimosis 115
Pneumoperitoneum 102
Poland syndrome 206
Polydactyly 144
Portwine stain 23,24
Posterior urethral valve 121
Potter syndrome 207
Preauricular skin tag 69
Preauricular sinus 85
Precocious puberty 72
Prepucial pearl 47
Proboscis lateralis 208
Progeria 199
Psoriasis 31
Pyloric stenosis 93
R
Rectal prolapse 110
Recurrent parotitis 4
Retts syndrome 164
Rhabdomyosarcoma 125
Rhinosporidiosis 224
Rickets 137
Ringworm infection 37
Robin anomalad 195
Rocker bottom foot 181
S
Sacrococcygeal teratoma 68
Saldino-Noonan
syndrome 183
Salmon patch 46
Scaphoid abdomen 112
Scabies 28
Sclera blue, Osteogenesis
imperfecta 141
Scleroderma 36
Scrufuloderma 9
Scurvy 139
Seborrheic dermatitis 22
Short rib-polydactyly syndrome
Type I 183
Type II 184
Sickle cell disease 234
Signs banana sign 170
cupola sign 103
gower sign 167
lemon sign 170
marfans sign 130
Molar tooth sign 175
Nikolski sign 20
Riglers sign 103
Steinberg sign 194
Whimberger sign 141
Whirlpool sign 101
Single umbilical artery 60
Split hand/foot deformity 146
Sternocleidomastoid
tumour 52
Stevens-Johnson
syndrome 18
Stibsons line 1
Sturge-Weber syndrome 155
Subacute sclerosing pan
encephalitis 2
Subconjunctival dermoid 200
Supernumerary nipple 51
Syndactyly 145
Syphilis,congenital 60
Systemic sclerosis 36
T
Taenia echinococcus 11
Tardive dystonia 178
Telogen effluvium 17
Tetanus 9
Tetanus neonatorum 10
SUBASH/NMC15-1393
244
Tetrology of Fallot 220
Thanatophoric dysplasia 185
Thoracic dystrophy,
asphyxiating 188
Thrush 60
Thyroglossal duct cyst 82
Tinea corporis 37
Tongue
fissured 226
geographical 226
Toxic epidermal necrolysis 20
Trisomy 13 182
Trisomy 18 181
Trisomy 21 179
Tubercular
lymphadenopathy 8
Tuberous sclerosis 153
Turners syndrome 191
Twin to twin transfusion 65
U
Urticaria 38
Umbilical hernia 89
V
Varicella 4
Varicella vaccine 6
Varicella zooster
immunoglobulin (VZIG) 7
Vater syndrome 210
Verruca vulgaris 7
Verruca plana 7
Vesicoureteral reflux 119
Vitamin A deficiency 225
Volvulus 101
W
Waardenburg syndrome 159
Warts 7
SUBASH/NMC15-1393

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Spotters in Pediatrics

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Spotters in

Swapnil Nursing Home and Research Center

Associate Professor Pediatrics

Chandra Laxmi Hospital

JAYPEE BROTHERS MEDICAL PUBLISHERS (P) LTD.

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First Edition : 2008

JPBMP typesetting unit

Budhwani KS, MCh

Jain Nirved, MCh

Prof. YK Amdekar (Retd)

Padmashree AT Dabke MD PhD

CHAPTER 3 NEONATOLOGY ----------------------------------------------------------- (4570)

CHAPTER 5 PEDIATRIC SURGERY ------------------------------------------------------ (81136)

CHAPTER 7 NEUROLOGY ----------------------------------------------------------------- (150178)

Progeria ------------------------------------------------------------------------------------------------- 199

MEASLES (Figs 1.1 to 1.3)

Fig. 1.1: A 6-year-old patient Fig. 1.2: Morbilliform rashes

Fig. 1.3: Conjunctivitis with peculiar rash

MUMPS (Figs 1.4 and 1.5)

Fig. 1.4: Enlarge parotid gland

Fig. 1.5: Two brothers suffering from mumps

CHICKENPOX (Figs 1.6 and 1.7)

Fig. 1.6: Neonate with chickenpox

Fig. 1.7: Chickenpox rashes

Varicella zooster immunoglobulin (VZIG).

MOLLUSCUM CONTAGIOSUM (Fig. 1.9)

WARTS (VERRUCAE) (Figs 1.10A and B)

Use of salicylic acid and lactic acid locally.

TUBERCULAR LYMPHADENOPATHY (Figs 1.11A to C)

Treatment and Prevention

LUPUS VULGARIS (Figs 1.12A and B)

TETANUS (Figs 1.13A and B)

KAWASAKI DISEASE (Figs 1.14A to C)

Figs 1.14A to C: Kawasaki disease, note the exfoliation of palms

HYDATID DISEASE (Figs 1.15A and B)

ASCARIS LUMBRICOIDES (Figs 1.16A to C)

HERPES ZOSTER (Figs 1.17A and B)

Dorsolumbar dermatomes are most frequently involved followed by trigeminal, cervical

Meyer HM et al. Am J.Dis. Child 1062; 103: 307.

ATOPIC DERMATITIS (Figs 2.1A and B)

ALOPECIA (Figs 2.2A and B)

Hair growth occurs in cycle.

Fig. 2.3: Telogen effluvium. Note acquired

ALOPECIA AREATA (Fig. 2.2A)

STEVENS-JOHNSON SYNDROME (Figs 2.4 and 2.5)

TOXIC EPIDERMAL NECROLYSIS (TEN) (Fig. 2.6)

HENOCH-SCHNLEIN PURPURA (Figs 2.7A to C)

SEBORRHEIC DERMATITIS (Fig. 2.8)

Fig. 2.8: Seborrheic dermatitisGreasy scales involving scalp, face

HEMANGIOMA AND VASCULAR MALFORMATION (Figs 2.9 to 2.11)

Capillary (Port wine)

Fig. 2.9: Hemangioma of lower lip

Fig. 2.10: Portwine stain over Fig. 2.11: Hemangioma right

will demonstrate effect of treatment within 7 to 10 days as softening of tumor, lightening of

CUTIS MARMORATA TELANGIECTATICA CONGENITA (Fig. 2.12)

Fig. 2.12: Cutis marmorata telangiectatica congenita

NEVUS OF OTA (Fig. 2.13)