PEDIATRIC SPOT DIAGNOSIS

ABDULRAHMAN BASHIRE
This case is 2 years old female presented with hemangioma since birth in the last months she
developed signs of bleeding tendency.
what this syndrome is called ?
cause of bleeding tendency?
line of management for this patient?
kasabach merritt syndrome,cause for bleeding -DIC(due to low plateletcount & consumptive
coagulopathy),treatment:propronolol/steroids/interferron after stabilization
hemodynamically, treatment medical is steroid and interferon and also surgery and laser therapy
7 years old male child with acute lymphoblastic leukemia (ALL) receiving chemotherapy in
our center presented with severe pain in the foot followed these bullous lesions in the foot.
what is the diagnosis?
management?
varicella zoster
7 years old female Presented with pallor, epistaxis & petechial rashes. O/E short stature below 3rd
centile, bilateral absent thumb , presence of multiple Caf au lait , microcephaly.No LAP , No
organomegaly. investigations CBC Pancytopenia
WBC 2800/cmm, Hb 4.4gm/dl, Plat 16000/cmm
High MCV 103 fl.
Macrocytic RBCs.
elevated HB F.
IVU revealed both kidneys in Rt side. Bilateral DDH. BM : Hypoplastic marrow
What is the Dx?
Mode of inheritance? Diagnostic test? Treatment?
Ans:- Fanconi syndrome
erythema multiforme
Pierre Robin Sequence (PRS), also known as Pierre
Robin Malformation, is a congenital condition of
facial abnormalities in humans. PRS is a sequence:
a chain of certain developmental malformations,
one entailing the next. A genetic cause to PRS was
recently identified: Pierre Robin sequence may be
caused by genetic anomalies at chromosomes 2, 11,
or 17. PRS is characterized by an unusually small
mandible (micrognathia), posterior displacement or
retraction of the tongue (glossoptosis), and upper
airway obstruction. Incomplete closure of the roof
of the mouth (cleft palate) is present in the majority
of patients, and is commonly U-shaped
The patient suffers from poor growth , cognitive delay ,
hyperactivity and constipation,
Cri du chat syndrome, also known as chromosome 5p
deletion syndrome, 5p minus syndrome or Lejeunes
syndrome, is a rare genetic disorder due to a missing
part of chromosome 5, The syndrome gets its name from
the characteristic cry of affected infants, which is similar
to that of a meowing kitten, due to problems with the
larynx and nervous system. About 1/3 of children lose
the cry by age 2. Other symptoms of cri du chat
syndrome may include:
feeding problems because of difficulty swallowing and
sucking. low birth weight and poor growth.
severe cognitive, speech, and motor delays.
behavioral problems such as hyperactivity, aggression,
tantrums, and repetitive movements.
unusual facial features which may change over time.
excessive drooling. constipation.
Other common findings include hypotonia, microcephaly, growth retardation, a round face with
full cheeks, hypertelorism, epicanthal folds, down-slanting palpebral fissures, strabismus, flat
nasal bridge, down-turned mouth, micrognathia, low-set ears, short fingers, single palmar creases,
and cardiac defects (e.g., ventricular septal defect [VSD], atrial septal defect [ASD], patent ductus
arteriosus [PDA], tetralogy of Fallot). People with Cri du chat are fertile and can reproduce.
this patient complained from recurrent attacks with
abdominal pain and arthralgia ,
1. what site you should examine in this patient?
2. invesigations requested in this patient?
3. dx?
? inflammatory bowel disease
A 5-day-old term infant presents to the
emergency department with a history of
bile-stained emesis. She is well nourished
and hydrated and had an unremarkable
course in the newborn nursery. She was
discharged at 48 hours after birth and was
breastfeeding, but her mother states the
baby always has vomited. Physical
examination reveals an afebrile infant who
has normal vital signs, but no audible
bowel sounds on abdominal evaluation. A
flat-plate abdominal radiograph reveals a
paucity of bowel gas.
Of the following, the MOST likely
diagnosis is
a) anorectal atresia
b) cystic fibrosis
c) malrotation of the bowel
d) septic ileus
e) tracheoesophageal fistula
Answer C
The patient described in the vignette presents with bilious emesis in the first postnatal week.
Bilious emesis always is a surgical emergency in the newborn. The differential diagnosis includes
any form of anatomic or functional gastrointestinal obstruction, such as an ileus, that may be
associated with sepsis. This infant is not systemically ill, febrile, dehydrated, or hemodynamically
unstable. Although her abdomen is not distended, the absence of bowel sounds on auscultation and
the paucity of bowel gas on abdominal radiograph are concerning for malrotation of the bowel
with a midgut volvulus. Early in this condition, findings on the physical examination may be as
described, but they can change rapidly, depending on how much the mesenteric perfusion has been
compromised. Later signs include rectal bleeding, hematemesis, palpable bowel loops, and an
uncomfortably distended abdomen with respiratory embarrassment and hypovolemic shock. If not
diagnosed and expeditiously addressed surgically, most of the small intestine may be lost.
Surgical exploration may need to precede any contrast gastrointestinal imaging (upper
gastrointestinal radiographic series if the patient is unstable. Plain radiographs may demonstrate a
normal, nonspecific bowel gas pattern; duodenal obstruction with the appearance of a "double
bubble"; gastric distention with a paucity of distal intraluminal gas; or a generalized pattern of
dilated small bowel loops. Half of all cases of midgut volvulus occurring in the first postnatal year
appear in the first week, another 25% appear in weeks 1 through 4, and the final 25% appear from
1 month to 1 year of age. These account for 90% of all cases of acute volvulus in pediatric
patients.
Anorectal atresia is associated with delayed or absent passage of stool. Abdominal distention
classically develops over the first 48 hours of postnatal life regardless of whether the infant is fed.
This condition and tracheoesophageal fistula (TEF) may be part of a broader spectrum of
associated malformations known as the VATER or VACTERL association (V=vertebral
anomalies, A=anorectal atresia, C=cardiac malformations, TE=TEF, R=renal anomalies, L=limb
anomalies). TEF typically presents with respiratory distress or poor handling of oropharyngeal
secretions and may present with gastrointestinal obstruction in utero or postnatally. The clinician
should evaluate the patient who has anorectal atresia or TEF carefully for other findings in the
VACTERL spectrum.
Cystic fibrosis may be associated with meconium ileus and delayed passage of stool beyond 24
hours. Affected infants may have bilious emesis if fed, and plain abdominal radiography
demonstrates dilated loops of bowel of varying caliber. If associated with meconium peritonitis or
a pseudocyst, intraperitoneal calcification may be seen. A septic ileus is associated with systemic
illness, abdominal distention, and a paucity of bowel gas or dilated loops of bowel on radiographs.
During circumcision, a newborn is noted to have continuous
dribbling of urine from his meatus and stool from his anus.
After several minutes of observation, the urinary stream
appears weak and remains a constant trickle. The baby boy
was born at term via an uncomplicated spontaneous vaginal
delivery. He was treated in the neonatal ICU for
hypoglycemia. A radiograph of his pelvis is shown.What
maternal disorder can lead to this abnormality?
Thalidomide exposure
Diabetes mellitus
Lupus
Marfan syndrome
Ans:- DM( sacral agenesis)
A newborn infant is born with petechiae scattered across his body. His platelet count is noted to be
22,000/L with a hemoglobin of 12 mg/dL. What is the most likely dx?
these lesions called blueberry muffin Characteristically, the blueberry muffin morphology presents
as non-blanching, blue-red macules or firm, dome-shaped papules (2-8 mm in diameter). The
eruption is often generalized but favors the trunk, head, and neck. The macules and papules are
present at birth and generally begin to resolve soon after to leave light brown macules. Clearing
usually occurs by 3-6 weeks after birth.it is due to dermal erythropoisis causes included mostly is
TORCH infection but other causes include Congenital leukemia , neuroblastoma , ABO
incompatibility
For our x ray here: the problem is
that the ETT was in the
oesophagus not in the trachea so
the oesophagus, the stomach and
the small intestine were distended.
what you think is
pneumopericardium is a dilated
oesophagus. the patient is looking
at the right side so you can see the
tracheal column of air to the right
side of the oesophagus where the
ETT is in. the heart is shifted to the
middle of the chest but the patient
is not centralized.
The natural history of idiopathic scoliosis varies
considerably based on the age at diagnosis. Curvatures in
excess of 80 degrees can result in restrictive pulmonary
disease, and larger curves in excess of 100-120 degrees can
result in a reduced life expectancy, due to cor pulmonale and
cardiorespiratory failure, the most important is restrictive
lung dis which can lead to cor pulmonale
elfin facies ,william syndrome role out suprvalvular AS and
peripheral PS , uualy with constipation and hypercalciemia
during infancy , with cocktel type of personality , Flattened
nasal bridge with small upturned nose
Long ridges in the skin that run from the nose to the upper lip
(philtrum)
Prominent lips with an open mouth
Skin that covers the inner corner of the eye (epicanthal folds)
Partially missing teeth, defective tooth enamel, or small,
widely spaced teeth
the features of this syndrom:epicanthel fold,low nasal
bridge,micrognathia,flat midface,short nose small
philitrum,and the specific feature can diffrientiate from williams its thin upper lip, fetal alcohol
syndrom ,,,, it is the only syndrom close to williams
cheilitis with angular stomatitis, its acute condition, the
child cannot eat or drink, its very painful, you can give
oral acyclover if early and you can give local anaethetic
but becareful of aspiration. also cold foods and drinks
eg. icecream are better than hot one
to say its Steven Jhonson syndrome, you need other
mm (eyes, urethra) and skin affection (its the severest
form of erythema multiform).
this child from India seen in hospital with following finding dx? treatment?
2nd degree heart block with right facial palsy is suggestive of Lyme disease especially in endemic
area
5 years old, short and under weight, spot
diagnosis. this child was brought by his
mother bec she thinks he is very small and not
like his siblings, his weight and height were
below the 3rd centile and his face is typically
triangular, there is no symptoms or signs of
malabsorption, he was born IUGR with
neonatal hypoglycemia. there are few cafe-au-
lait skin pigmentation .
Russel Silver syndrome
3 days male.... H/O constipation last 2 days....+ abdominal distesion>>>
what.s your diagnosis????
this x ray is not so specific and any cause of lower neonatal intestinal obstruction can give this
picture, anus, meconium plug and small lt.colon may give similar picture, Hirschsprung`s
diagnosed by barium or biopsy or manometry and x ray is only suggestive
diagnosis is Hirschsprung disease
swelling of Rt thigh
infection,hematoma,ewing sarcoma, osteomyelitis, ? hemihypertrophy, fracture,
diagnosis is case of haemophilia, presenting with haematoma in the thigh muscle.
This child died after 3 months he is a case of trisomy 13 patau syndrome with holoprosencephaly
+cleft lip and palat
its middle east syndrome ( Sanjad-Sakkati Syndrome ), Congenital hypoparathyroidism with some
dysmorphic features and some kind of immunocompromise, usually they present with poor growth
and recurrent infections with hypocalcemia due to hypoparathyroidism. for the comment of
Dr.Hozayen, I agree with you but afterall, the aim of this photos is to share our experience. As you
know this syndrome is very rare in Egypt for example and Iam sure our colleagues in Egypt didnot
see it or at least rarely see it. by the end, please accept my apology for any inconvenience., Sanjad
Sakati Syndrome (HRD syndrome) is a very
rare autosomal recessive congenital disorder with equal distribution in both sexes and the gene of
the syndrome is on chromosome 1q42-q43 and has severe and often fatal consequences. It is
characterized by severe congenita l hyperparathyroidism, severe prenatal and post-natal
growth retardation as well as mild to severe mental retardation. The common dysmorphic features
of the syndrome are microcephaly with prominent forehead, deep- set eyes, thin lips, depressed
nasal bridge with peaking of the nose, large floppy ear lobes and small hands and feet. The
differential diagnoses include DiGeorge syndrome; 22q11 delition, Kenny Caffey syndrome, HDR
(Hypoparathyroidism, Deafness, Retardation ) syndrome, 10 p13 deletion syndrome, retinoic acid
embryopathy and X- L inked isolated hypoparathyroidism. It is commonly described in the Middle
East population of Arab origin (Bedouins), the first case
was described by Sanjad et al (1988) in Saudi Arabia and then they published 12 cases in 1991; 6
girls and 6 boys who were seen over a 3-year period.Symptoms had occurred in the newbon period
in nine of them; all have severe hypocalcemia associated with hyperphosphatemia and low
concentration of immunoreactive parathyroid hormone. They have intrauterine growth retardation
and dysmorphic facies. None of these babies suffered from congenital heart disease and
cellmediated immunity measured in five patients was normal.
Richardson and Klirk (1990) published 8 cases; the first one was born in UK of first cousin
parents from Qatar and the other children was simply described as being from the Middle-eastern
region. Although some features suggested DiGeorge syndrome or the Kenny-Caffey syndrome,
the conclusion was that it indeed a separate entity.
Harshkovitz et al (1995) published 6 cases; 3 boys and 3 girls of Arab Bedouin origin from the
Negev with the same features of the syndrome. Ethnicity and clinical features indicated that it is
the same disorder as that reported from SaudiArabia. Parvari et al (1998) used homozygosity and
linkage dysequilibrium to map the gene for this disorder to a 1-cM interval on 1q42-q43 and on
2002 demonstrated that both autosomal recessive Kenny- Caffey syndrome and Sanjad Sakati
syndrome are caused by mutations in TBCE (Tubulin specific chaperone E).
d/d is normal variant ALKAPTONUREA. OI, Marfans , IDA, psudoxanthoma elasticum , Ehler
danlos syndrome, HYPOPHOSPHATEMIA and many other causes
A 10-year-old girl has had a rash for 4 days without other symptoms. She is taking no
medications. Physical examination reveals erythematous cheeks and a lacy,
reticulated erythema involving the extremities .Of the following, the MOST likely diagnosis is
A. erythema infectiosum
B. phototoxic reaction
C. polymorphous light eruption
D. scarlet fever
E. systemic lupus erythematosus
The girl described in the vignette has an eruption consistent with erythema infectiosum (fifth
disease), the most common clinical expression of infection with human parvovirus B19. In some
patients, fever, malaise, myalgia, or headache precede the eruption by 7 to 10 days. The rash
begins as confluent erythema of both cheeks (the so-called "slapped-cheek" appearance), followed
by a lacy, reticulated, pink erythema of the extremities or trunk (Item C1B). After
3 to 5 days, the eruption fades, although it may return for up to 4 months following exercise,
overheating, or sun exposure. Other syndromes associated with human parvovirus B19
infection include an atypical rash (eg, one that mimics rubella or a petechial eruption involving the
hands and feet [papular purpuric gloves and socks syndrome]) (Item C1C), transient aplastic
crisis in patients who have hemolytic anemias, and bone marrow failure in immunodeficient
individuals. Infection during pregnancy, particularly during the first half of pregnancy, may cause
fetal hydrops and death.
A number of disorders produce facial or widespread erythema, but these generally can
be distinguished clinically from erythema infectiosum. In none of these disorders is the
characteristic lacy, reticulated eruption of erythema infectiosum present. Erythema of sunexposed
skin may result from phototoxic drug reactions in which ultraviolet radiation activates a drug (eg,
nonsteroidal anti-inflammatory drugs, tetracyclines, quinolones, phenothiazines).
Nonimmunologic cellular damage produces sunburnlike redness that appears 2 to 6 hours after
sun exposure. Polymorphous light eruption, a delayed hypersensitivity reaction to ultraviolet
light, typically appears 1 to 2 days following sun exposure. Erythematous papules or vesicles
develop on sun-exposed sites, such as the face, sides of the neck, and extremities .
Children who have scarlet fever often manifest facial erythema and perioral pallor, but the rash is
composed of fine, rough-feeling erythematous papules (Item C1E) that are concentrated in
flexural areas. Associated symptoms and signs are common and include fever, sore throat, a
strawberry tongue, and tonsillar exudates. As many as 60% of patients who have systemic
lupus erythematosus exhibit a photosensitive malar rash. Unlike the "slapped-cheek"
appearance of erythema infectiosum, this eruption may involve the bridge of the nose and
cheeks and often is scaling
A 14 month old girl developed this rash which is not responding to treatment,She had also
adenopathy, hepatosplenomegaly, anemia, and thrombocytopenia.. WHAT IS THE
DIAGNOSIS????????, AbtLettererSiwe disease is the rarest and most severe manifestation
of LCH (LANGERHANS CELL HISTIOCYTOSIS)
child with some autistic behavior and bad school performance with Hx of delay walking , what is
the Dx?
Fragile X syndrome (FXS), also called Martin-Bell syndrome, is the most common type of
inherited intellectual disability (formerly called mental retardation). Symptoms of FXS are life
long, but they range from mild to severe. Symptoms are typically more severe in males than
females.
Individuals with FXS inherit a mutated gene from their parents. This mutated gene is unable to
produce enough of a protein (called the familial mental retardation protein) that is needed for the
body's cells, especially the brain cells, to develop and function normally. The amount of protein
that can be produced varies among patients, and partially determines the severity of the disorder.
Patients may also experience other symptoms, including social anxiety, attention deficits, speech
and language disorders, seizure disorders, and increased sensitivity to sensory stimuli. A patient's
life expectancy is largely dependent on the severity of his/her intellectual disability.
About one out of 4,000 males and one out of 8,000 females are born with FXS each year in the
United States.
Although there is currently no cure for FXS, treatments and therapies have been shown to help
FXS patients live healthy and relatively normal lives. No matter how serious a patient's learning
disability, he/she is capable of learning new things. Most children with FXS are able to develop
basic academic skills, although they may need more time to learn or may require special teaching
methods. Many adults are able to live independently and maintain jobs. Early intervention and
proper care has been shown to increase a patient's long-term prognosis.
this newborn has history of fetal distress and developed this skin lesion. whats ur diagnosis?????
Subcutaneous fat necrosis (SFN) of the newborn characteristically affects full-term infants who
have experienced perinatal distress, such as hypothermia, obstetric trauma, or asphyxia.
(A), left hand and feet showing broad thumb and big toes (B, C) and X-ray of both hands showing
short broad thumbs (D). (Limb Malformations & Skeletal
characterized by short stature, moderate to severe learning difficulties, distinctive facial features,
and broad thumbs and first toes. Other features of the disorder vary among affected individuals.
People with this condition have an increased risk of developing noncancerous and cancerous
tumors, leukemia, and lymphoma. This condition is inherited in an autosomal dominant,
Anesthesia may be dangerous in these patients: in some cases, individuals with Rubinstein-Taybi
syndrome may have complications (e.g., respiratory distress and/or irregular heart beats [cardiac
arrythmias]) associated with a certain muscle relaxant (succinlycholine) and certain anesthesia.
Any situations requiring the administration of anesthesia or succinlycholine (e.g., surgical
procedures) should be closely monitored by skilled professionals. Typical features of the disorder
include:
Broad thumbs and broad first toes
Mental disability
Small height, bone growth, small head
Cryptorchidism in males
Unusual faces involving the eyes, nose, and palate
for the photo above;Facial features
CAUSES OF SPEECH AND LANGUAGE DELAY:
Developmental speech and language disorder is a common reason for speech/language problems
in kids. These kids may have trouble producing speech sounds, using spoken language to
communicate, or understanding what other people say. Speech and language problems are often
the earliest sign of a learning disability.
1)Hearing loss is often overlooked, and easily identified. hearing should be tested.
2)Intellectual disabililtyis a common cause of speech and language delay.
3)Extreme environmental deprivation can cause speech delay. If a child is neglected or abused and
does not hear others speaking, they will not learn to speak.
4)Prematurity can lead to many kinds of developmental delays, including speech/language
problems.
5)Auditory Processing Disorder describes a problem with decoding speech sounds. These kids can
improve with speech and language therapy.
6)Neurological problems like cerebral palsy, muscular dystrophy, and traumatic brain injury can
affect the muscles needed for speaking.
7)Autism affects communication. Speech/language/communication problems are often an early
sign of autism..
8)Structural problems like cleft lip or cleft palate can interfere with normal speech.
9)Apraxia of speech is a specific speech disorder in which the child has difficulty in sequencing
and executing speech movements.
10)Selective mutism is when a child will not talk at all in certain situations, often school.
11)any cause of mental retardiation(genetic, metabolic, prenatal infection, kerniketrus,
hypothyrodism, birth asphaxia,,,,,)
Diagnostic evaluation::: 1)All children with speech delay should be referred for audiometry,
regardless of how well the child seems to hear in an office setting and regardless of whether other
disabilities seem to account for the speech delay.8 Special earphones that shut out background
noise may improve the study result. Tympanometry, pure-tone audiometry, An auditory brain-
stem response provides a definitive and quantitative physiologic means of ruling out peripheral
hearing loss. It is especially useful in infants and uncooperative children..
2)Additional tests should be ordered only when they are indicated by the history or physical
examination. A karyotype for chromosomal abnormalities and a DNA test should be considered in
children who have the phenotypic appearance of fragile X syndrome .3) An electroencephalogram
should be considered in children with seizures or with significant receptive language disabilities.
The latter may occasionally be related to subclinical seizure activities in the temporal lobe.4
Management
The management of a child with speech delay should be individualized. The health care team
might include the physician, a speech-language pathologist, an audiologist, a psychologist, an
occupational therapist and a social worker. The physician should provide the team with
information about the cause of the speech delay and be responsible for any medical treatment that
is available to correct or minimize the handicap.
Retinitis pigmentosa with polydactyly points to Bardet-Biedl syndrome. major signs and
symptoms of Bardet-Biedl syndrome include the presence of extra fingers and/or toes
(polydactyly), intellectual disability or learning problems, and abnormalities of the genitalia. Most
affected males produce reduced amounts of sex hormones (hypogonadism), and they are usually
unable to father biological children (infertile). kidney abnormalities, ,obesity,retinitis pigmentosa.
this young child with growth deficiency, feeding difficulties, psychomotor delay, behavioral
problems and VSD,,,WHAT IS U DX??
cornelia de lange syndrome
-A 9-yr-old boy presents with fever >39C for 4 days, myalgias, watery diarrhea, conjunctival
infection, diffuse erythroderma, strawberry tongue, blood pressure of 105/45 mm Hg, and
moderately elevated hepatic transaminases. The most likely diagnosis is:
Toxic shock syndrome