PEDIATRICs

______________
===================================================== Cardiology ===============
==============================================================
. Myocarditis:
______________
. Is an inflammation of the myocardium, Caused by: infections, toxins, and auto
immune diseases.
. Viral infection ( enteroviruses in particular) the most common cause of myoca
rditis in children.
. Classically occurring in spring and summer, myocarditis develops more often i
n infants and young children than in older children and adolescents.
. Leads to tissue necrosis, thereby worsening myocardial function, dilating the
heart, and increasing end diastolic volume with resultant pulmonary edema and C
HF.
. Myocarditis typically presents as a flulike illness: fever, anorexia, letharg
y, and irritability followed by respiratory distress from acute heart failure.
. A holosystolic murmur may be identified secondary to dilated cardiomyopathy a
nd the resulting functional mitral regurgitation.
. Hepatomegaly can develop due to passive congestion Other features of heart fa
ilure include fatigue, tachypnea, tachycardia, and decreased perfusion.
. Affected children should be monitored in the intensive care unit because of t
he risk of acute decompensation and fatal arrhythmias.
. The workup for suspected myocarditis includes a (CBC) with differential, ESR
and C-reactive protein, cardiac enzymes, and blood and viral cultures.
. A chest radiograph demonstrates cardiomegaly and pulmonary edema.
. Electrocardiography most commonly shows low voltage QRS and sinus tachycardia
.
. Echo.is the best means of evaluating myocardial function and often shows glob
al hypokinesis, left vent. hypertrophy, left vent. dysfunction & pericardial eff
usion.
. The gold standard for diagnosis is a myocardial biopsy, which also allows for
disease stage classification.
. Ventricular septal defect (VSD):
__________________________________
. The most common congenital heart malformation.
. VSDs range from small and asymptomatic to large with significant left-to-righ
t shunting.
. Indications of significant VSD is: left-to-right shunt First, he is symptomat
ic Second, he has the telltale murmur.
(Affected patients have pansystolic murmurs loudest at the left lower sternal
border.
. There maybe also a diastolic murmurs at the apex because of increased flow ac
ross the mitral valve ).
. This patient should have an echocardiogram with a bubble study to evaluate hi
s congenital heart defect.
. Most small ventricular septal defects close spontaneously and require no trea
tment, as long as there are no signs of pulmonary vascular disease.
. Reassurance and surveillance via EKG and echocardiography are needed in most
patients.
. Tetralogy of Fallot (TOF):
____________________________
. Is the most common cyanotic congenital disease in children less than 4 years.
. Patients often present with cyanotic spells.
. The classic tetrad includes:
(1) subpulmonary stenosis (single S2), (2) overriding aorta, (3) ventricularse
ptal defect (VSD) (pansystolic murmur), and (4) right ventricular hypertrophy.
. Because a large unrestrictive VSD is always present, the right ventricular pr
essure is the same as the left ventricular and aortic pressures.
. Pulmonary artery pressure and flow are inversely proportional to the degree o
f subpulmonary obstruction.
. The degree of cyanosis correlates precisely with the degree of pulmonary sten
osis.
. Untreated patients with TOF are at risk for "hypercyanotic" or "tet" spells.
. These spells are often precipitated by exertion (such as feeding) and are cha
racterized by irritability, cyanosis, and tachypnea.
. The exact etiology of these episodes is unclear, it may be predisposed by per
ipheral vasodilation, hyperventilation, and/or contractility of the Rt. ventricu
lar outflow tract.
. Regardless of the etiology, however, an increased right to left shunt across
the ventricular septal defect develops, causing a decrease in pulmonary blood fl
ow and
increased systemic venous return of deoxygenated blood leading to worsening c
yanosis.
. If untreated, "tet" spells can lead to syncope or death.
. The treatment of a "tet" spell is to place the child in a knee to chest posit
ion, which increases systemic vascular resistance resulting in
increased blood flow from the right ventricle to the pulmonary circulation.
. Morphine and an intravenous fluid bolus can also be given to increase pulmona
ry blood flow.
. Oxygen is of little benefit because the abnormality is decreased pulmonary bl
ood flow, not insufficient oxygenation
. Atrial septal defects:
________________________
. Are relatively common among children and may cause symptoms.
. On exam, there is a widely split and fixed S2, systolic ejection murmur in th
e left upper sternal border, and,
if there is a large shunt, a diastolic murmur at the left lower sternal borde
r.
. Transposition of the great vessels:
_____________________________________
. A cyanotic heart disease which presents with cyanosis in the first 24 hours o
f life.
. It is commonly seen in infants of diabetic mothers and in males.
. The aorta arises from the right ventricle, and the pulmonary artery from the
left ventricle.
. As a result, deoxygenated blood coming from the body goes to the right atrium
and ventricle and is cycled back to the body through the aorta.
. Oxygenated blood from the lungs is returned to the lungs by the left side of
the heart through the pulmonary artery.
. During intrauterine life, the fo ramen ovale and ductus arteriosus provide mi
xing of the deoxygenated and oxygenated blood,
resulting in an almost normal oxygenation of the fetal circulation.
. A patent foramen ovale or ductus arteriosus can maintain life after birth, as
seen in a patient with normal Apgar scores.
. The foramen ovale and ductus arteriosus begin to close after birth, leading t
o decreased mixing and poor oxygenation.
. As the aorta is located in front of the pulmonary artery, the S2 aortic compo
nent is better heard than the S2 pulmonic valve component and is audible as a si
ngle S2.
. There is usually no murmur because the foramen ovale and ductus arteriosus ha
ve closed.
. The neonate then presents with cyanosis and tachypnea within the first few ho
urs of life.
. Chest x-ray can be initially normal but show some evidence of increased pulmo
nary blood flow after 1-2 weeks.
. Echocardiography confirms the diagnosis.
. Prostaglandin E1 can be intravenously given to stabilize the neonate by maint
aining the patency of the ductus arteriosus, which is important for survival.
. Surgical treatment is definitive.
.N.B:
- Prostaglandin E1 is a vasodilator used to prevent ductus arteriosus closure i
n such infants,
to increase or maintain pulmonary blood flow and improve oxygenation until de
finitive surgery can be performed.
- Closure of the ductus arteriosus in such patients would cause progressive hyp
oxia and metabolic acidosis.
. Coarctation of the aorta (COA):
_________________________________
. A congenital defect characterized by stenosis of the aorta, usually near the
ductus arteriosus.
. present with hypertension in the upper part of the body (high BP in the arms)
and relative hypoperfusion in the lower part of the body (low BP in the legs).
. The prevalence of COA in patients with Turner's syndrome is approximately 7%.
. The clues to the diagnosis are occasional headaches and increased BP in both
arms, leg muscle fatigability while climbing stairs (due to lower body hypoperfu
sion).
. And a mild, continuous murmur heard all over the chest (due to the developmen
t of collaterals between the hypertensive and hypoperfused vessels).
. Rib notching caused by the dilatation of the collateral chest wall vessels is
specific for coarctation.
. Mitral stenosis:
__________________
. also causes a diastolic rumble but does not typically cause a pansystolic mur
mur at the left lower sternal border unless there is tricuspid regurgitation as
well.
. Other features to suggest rheumatic fever such as fever, arthritis, or skin l
esions.
. Tricuspid atresia:
____________________
. Suspect tricuspid atresia in a cyanotic infant with left axis deviation.
. This condition is characterized by an absent connection between the right hea
rt cavities, and a hypoplastic or absent right ventricle.
. Ventricular septal defect (holosystolic murmur on auscultation) occur in 90 %
of cases.
. Transposition of the great arteries occur in 30% of cases (which is not likel
y to be in a case where the chest x- ray does not demonstrate pulmonary overcirc
ulation).
. The associated heart defects, such as atrial septal defect (ASD), ventricular
septal defect (VSD), or patent ductus arteriosus (PDA), are necessary for survi
val.
. Venous blood passes through the ASD to reach the left cavities, and then thro
ugh the VSD back to the outlet portion of the right ventricle to reach the pulmo
nary circulation.
. Sometimes, there is an associated pulmonary stenosis, and the blood passes th
rough the PDA to reach the pulmonary circulation.
. Patients with normal arteries (without TGA) present in the first two weeks of
life with progressive cyanosis, tachypnea, easy fatigability, and poor feeding.
. EKG reveals left ventricular hypertrophy, which occurs since the left ventric
le handles both pulmonary and systemic venous returns.
. Echocardiography shows a fibromuscular membrane in the place of the tricuspid
valve, a variably small right ventricle, ventricular septal defect, and a large
left ventricle.
. The treatment generally includes PGE1 (to keep the ductus arteriosus open) an
d balloon atrial septostomy
(if the ASD is not large enough to allow an adequate flow from the right to l
eft atrium)
. postpericardiotomy syndrome:
______________________________
. It is reactive pericarditis with a pericardial effusion that present after su
rgery for congenital heart disease.
. Symptoms usually occur 1-6 weeks after surgery.
. Although the cause is not known, it is thought to be an autoimmune response,
possibly to a viral infection.
. Most children develop mild symptoms which are self limited. In infants, peric
ardial effusions can present with abdominal pain, vomiting, and decreased appeti
te.
. Older children may complain of chest pain Fever is often present On examinati
on, findings are consistent with pericardial and/or pleural inflammation,
including tachycardia, poor perfusion, pulses paradoxus, distant heart tones,
and jugular venous distention.
. If the effusion is large enough to affect the function of the heart , pericar
dial tamponade can occur.
N.B:
- Most cardiac murmurs in childhood are benign (innocent) and require only obse
rvation. Know the following features of a benign murmur:
systolic ejection quality.
varies with position;
Asymptomatic patient
Murmur intensity grade 2 or less
Normal S2
No audible clicks
Normal pulses
No other abnormalities.
- Pathological murmurs may indicate or lead to congenital heart disease, and ar
e very likely when the patient has any of the following:
symptomatic patient
Murmur intensity more than grade 2.
Pansystolic murmur
Murmur loudest at upper left sternal border
Absent or diminished femoral pulses
Murmur's quality is unchanged with position.
. Rheumatic fever:
__________________
. Suspect rheumatic fever in a child with sore throat, low-grade fever, pericar
ditis, arthritis, chorea and subcutaneous nodules.
. Other features include erythema marginatum, elevated ESR and prolonged PR int
erval on EKG.
. Rheumatic fever is caused by is group A streptococcus.
. Diagnosis is made if two major or one major and two minor criteria (Jones cri
teria) are satisfied, in addition to
evidence of recent streptococcal infection (via detection of antistreptolysin
antibodies, cultures and other various antigen detection kits).
. Jones criteria:
-----------------
. The five major criteria are:
- Polyarthritis.
- Carditis.
- Chorea.
- Subcutaneous nodules.
- Erythema marginatum.
. The three minor criteria are:
- Fever.
- Arthralgia.
- Previous rheumatic fever.
. The treatment is benzathine penicillin G.
. Patients with chorea, pericarditis and arthritis may require additional thera
py with anti-epileptics, salicylates, and codeine, respectively.
. Jervell-Lange-Nielson syndrome:
_________________________________
. Is an autosomal recessive disease characterized by congenital deafness and QT
interval prolongation on EKG.
. QT interval prolongation predisposes to a particular type of ventricular tach
ycardia called torsades de pointes.
. Torsades de pointes cause syncopal episodes and sudden death.
. The clue to the diagnosis is a syncopal episode without following disorientat
ion (post-episode confusion is more characteristic for a seizure), hearing impai
rment & family history.
. If the patient is asymptomatic or does not have a clearly documented syncope,
beta blocker alone is sufficient.
. If the patient is symptomatic or has a documented episode of syncope, the tre
atment will be beta-blocker plus a DDD pacemaker.
. Wolff-Parkinson-White (WPW) syndrome:
_______________________________________
. Characterized by an accessory pathway between the atrium and ventricle result
ing in preexcitation and an increased risk for tachyarrhythmias.
. WPW is usually seen in otherwise healthy children or adolescents.
. Affected patients can either be asymptomatic or present with chest pain, palp
itations, syncope, or cardiac arrest.
. In WPW, an accessory pathway conducts antegrade from the atria to the ventric
les faster than the conduction through the AV node, which
allows part of the ventricle to depolarize early.
. This results in the classic EKG findings of a shortened PR interval, a slurre
d initial portion of the QRS (the delta wave), and a widened QRS complex.
. If there is retrograde conduction from the ventricles to the atria, supravent
ricular tachycardia (SVT) can result.
. The EKG features of WPW will not be apparent during episodes of SVT, but the
delta wave should be visible once the rhythm is slowed.
. Sudden death can occur from dysrhythmias if WPW is untreated.
. A patent ductus arteriosus (PDA):
___________________________________
. Usually associated with a continuous flow murmur due to constant movement of
blood from the high-pressure aorta to the low-pressure pulmonary artery.
. Small PDAs are often asymptomatic and detected incidentally on routine cardia
c auscultation.
. Physical examination is often unremarkable in small PDA, although mildly acce
ntuated peripheral pulses can occur.
=============================================================== ENT ============
=================================================================
. Epiglottitis:
_______________
. In unimmunized children H. influenza type B is the most likely cause.
. In Hib vaccinated patients:H. influenzae type A and nontypable strains, H. pa
rainfluenzae, Streptococcus pneumoniae
. Sudden onset of; fever, sore throat, dysphagia and drooling.
. Airway obstruction is the most concerning complication of epiglottitis.
. This is a pediatric emergency and should be managed emergently with endotrach
eal intubation; however, since intubation of such patients is difficult,
preparation for possible tracheostomy is also standardly performed.

. Allergic Rhinitis:
____________________
. Allergic rhinitis is characterized by an immunoglobulin E (lgE) mediated hype
rsensitivity to fo reign allergens.
. It may be acute or chronic, and can be confused with recurrent colds.
. It may present with itchy eyes and tearing, swollen mucosa, headaches and nas
al obstruction,if the age of onset is in the second decade of life.
. Diagnosis is by allergy testing and findings of eosinophilia in the nasal dis
charge.
.N.B:
- The most common predisposing factor for acute bacterial sinusitis is a viral
upper respiratory infection.
. Choanal atresia: Extremely high yield question for USMLE.
__________________
. Suspect choanal atresia in an infant who presents with cyanosis that is aggra
vated by feeding and relieved by crying.
. Failure to pass a catheter through the nose 3-4 cm into the oropharynx is sug
gestive of the diagnosis.
. The diagnosis is confirmed by CT scan with intranasal contrast.
. First step in management consists of placing an oral airway and lavage feedin
g.
. Definitive treatment involves repairing the obstruction with surgery or endos
copy.
. Brain abcess after otitis media:
__________________________________
. An acute onset of headaches and focal neurologic symptoms after an episode of
acute otitis media or sinusitis most likely has a brain abscess.
. Hypothermia, hypotension.
. Ring-enhanc ing lesions are usually seen on CT or MRI scan.

. Acute bacterial sinusitis:
____________________________
. Streptococcus pneumoniae is the most common cause of acute sinusitis in child
hood, followed by Haemophilus influenzae and Moraxella catarrhalis.
. Staphylococcus aureus and anaerobes are common etiologic agents of chronic si
nusitis, and are rarely seen in acute cases.
. Diagnosis of acute bacterial sinusitis for children <6 years of age should be
based on clinical rather than radiographic criteria.
. The treatment is antibiotics, in uncomplicated sinusitis, the treatment of ch
oice is amoxicill in 45-50 mg/kg/day.
. Cholesteatomas:
_________________
. Cholesteatomas in children can either be congenital or acquired secondary to
chronic middle ear disease.
. Congenital cholesteatomas typically found in younger patients around the age
of five.
. New-onset hearing loss or chronic ear drainage despite antibiotic therapy are
typical presenting symptoms of acquire cholesteatomas, and
granulation tissue and skin debris may be seen within retraction pockets of t
he tympanic membrane on otoscopy.
. Complications of cholesteatomas include hearing loss, cranial nerve palsies,
vertigo, and life-threatening infections as brain abscesses o rmeningitis.
. Should be referred to an otolaryngologist for a dedicated otologic exam, poss
ibly accompanied by a CT and/or surgical visualization to confirm the diagnosis.
. Acute otitis media:
_____________________
. The most common causative organism is Streptococcus pneumoniae (40% of cases)
, followed by non-typable Haemophilus influenzae & Moraxella catarrhalis.
. Acute otitis media should be considered in any patient with symptoms of ear d
rainage and difficulty hearing.
. Ear pain is also common, but may be absent in young patients.
. Nonspecific systemic symptoms: fever, irritability, and diarrhea can sometime
s be present.
. The first-line treatment is 10 day course of amoxicillin.
. juvenile angiofibroma (JNA):
______________________________
. Any adolescent with a nasal obstruction, visible nasal mass, and frequent epi
staxis is considered to have a juvenile angiofibroma (JNA) unless proven otherwi
se.
. This is typically found in the back of the nose or upper throat (nasopharynx)
of adolescent boys.
. It is a benign growth, but is capable of eroding and locally invading.
. Removal is often difficult because the tumor is unencapsulated and may be dee
ply invasive.
. Recurrence of the tumor after surgical resection is common.
. Retropharyngeal abscesses:
____________________________
. Present with: fever, irritability, and fatigue along with a sore throat, dysp
hagia, trismus, a muffled or "hot potato" voice, and/or neck stiffness.
. On examination, unilateral cervical lymphadenopathy and decreased range of mo
tion of the neck are common.
. The oropharynx may be erythematous and a unilateral pharyngeal bulge may be p
resent if the child is able to open the mouth.
. Respiratory distress, if present, is concerning for airway obstruction.
. Diagnosis can be confirmed with either plain X-ray or a CT scan of the neck.
. Lateral neck X-ray often show widening of the soft tissue space between the t
rachea and the spine.
. Due to false +ve & -ve results of X-ray, so the diagnosis should be confirmed
by CT, which will delineate the abscess and help distinguish between an abscess
and cellulitis.
. N.B:
- Inflamed, fluctuant cervical lymph nodes are typically caused by streptococca
l or staphylococcal infection, The antibiotic of choice is dicloxacillin.
- dicloxacillin will treat infections caused by methicillin-sensitive Staphyloc
occus aureus (MSSA) but not methicillin- resistant Staphylococcus aureus (MRSA).
. Croup:
________
. Also known as laryngotracheitis or laryngotracheobronchitis (LTB).
. Is characterized by laryngeal inflammation that results in hoarseness, a bark
ing cough, and varying degrees of respiratory distress over time.
. The typical patient is less than 3 years of age, and the most common causativ
e agent is Parainfluenza virus.
. Croup is usually a clinical diagnosis Lateral neck x- rays show subglottic na
rrowing.
. Give a trial of epinephrine in cases of croup before intubation.
. A trial of racemic epinephrine should precede any invasive procedure in cases
of croup, as this decreases the need for intubation.
. Epinephrine acts by its alpha-adrenergic that is beneficial by reducing bronc
hial secretions and mucosal edema and
. Beta-adrenergic effects that help croup patients who are also wheezing by pro
moting smooth muscle relaxation.
. Laryngomalacia or congenital flaccid larynx :
________________________________________________
. is the most common cause of chronic inspiratory noise in infants.
. Laryngoscopy shows flaccidity of the larynx, and collapses during inspiration
.
. It is a self-limiting condition in most cases, and generally subsides by 18 m
onths of age.
. The mother should be instructed to hold the child in an upright position for
half an hour after feeding, and to never feed the child when he is lying down.
================================================================= Ophthalmology
==================================================================
. Neonatal Conjunctivitis:
__________________________
. Gonococcal conjunctivitis: A copious amount of purulent drainage in newborns
who are 2-5 days old is most consistent with gonococcal conjunctivitis.
. Chlamydia trachomatis conjunctivitis: caused by Chlamydia trachomatis is usua
lly milder and presents > 5 days after birth.
. Chemical conjunctivitis can result from prophylactic silver nitrate eye drops
, but it is usually fairly mild.
. viral conjunctivitis:
_______________________
. The conjunctiva is red with copious, watery discharge.
. Children are more commonly infected through contaminated swimming pools.
. It is mostly caused by adenovirus type 3.
. Chemical conjunctivitis:
__________________________
. It is the most common cause of a red eye that presents within the first 24 ho
urs of life.
. Approximately 80% of patients who receive silver nitrate prophylaxis (to prev
ent gonococcal conjunctivitis)
experience mild conjunctival irritation and tearing that generally resolve wi
thin 24 hours.
. Gonococcal conjunctivitis:
___________________________
. is acquired through contact with infected genital secretions, and occurs 2-5
days after birth.
. It presents as a hyperacute and highly purulent conjunctivitis with copious,
purulent eye discharge with swollen eyelids and chemosis.
. It is the most destructive neonatal eye infection, since it may result in cor
neal perforation and permanent blindness if left untreated.
. The treatment is ceftriaxone.
. Chlamydial conjunctivitis:
___________________________
. Develops a few days to several weeks after birth ( > 5 days after birth).
. Manifests with conjunctival congestion, edema, and mucoid or frank purulent d
ischarge.
. Pneumonia usually appears 3 to 19 weeks after birth, and symptoms include cou
gh, tachypnea, and rales; there is no fever, and wheezing is rare.
. The latter two features permit to differentiate chlamydial pneumonia from RSV
bronchiolitis.
. The treatment is oral erythromycin for 14 days, as topical agents are ineffec
tive.
. Trachoma:
___________
. caused by Chlamydia trachomatis serotype A-C. It is a major cause of blindnes
s worldwide.
. The active phase of the disease is characterized by follicular cionjunctiviti
s and pannus (neovascularization) formation in the cornea.
. conjunctivitis usually presents on the 5th to 14th day of life as congestion
and discharge that may be scant, mucoid or frankly purulent.
. Concurrent infection occurs in the nasopharynx, leading to nasal discharge.
. The diagnosis can be made by Giemsa stain examination of conjunctiva! scrapin
gs.
. Topical tetracycline or oral azithromycin should be started immediately.
. The treatment is erythromycin, which has to be administered systemically (ora
l) to decrease the risk of chlamydial pneumonia.
. Repeated infections can lead to scarring of the cornea.
. Retinal hemorrhages:
______________________
. Common findings in child abuse. Multiple retinal hemorrhages that differ in s
ize and color support the suspicion of child abuse.
. A precipitating factor (stepfather/mother, financial issue) is usually presen
t in the history In addition, there may be
bruises that usually have associated swelling and tenderness.
. In this case, nothing in the history and physical findings is suggestive of c
hild abuse; therefore, reporting to the authorities is not necessary.
. Herpes simplex keratitis:
___________________________
. Presents as pain, photophobia, and decreased vision.
. Dendritic ulcer is the most common presentation.
. There may also be minute clear vesicles in the corneal epithelium.
. Orbital cellulitis:
_____________________
. Is an infection that is posterior to the orbital septum which is unilateral a
nd more common in children with paranasal sinus infection.
. Patients present with an abrupt onset of fever, proptosis, restriction of ext
raocular movements and swollen, red eyelids.
. Differentiating preseptal cellulitis and orbital cellulitis is important in a
ny patient who presents with a swollen and painful eye accompanied by fever.
. Pain with eye movement is more suggestive of orbital cellulitis it can occur
in preseptal cellulitis as well.
. Both proptosis and decreased visual acuity are almost always seen in orbital
cellulitis.
. CT can be used to confirm the extent of infection and to identify a potential
abscess.
. Treatment requires intravenous broad-spectrum antibiotics.
. Preseptal cellulitis:
_______________________
. Is an infection of the soft tissue anterior to the orbital septum, that is mo
st commonly caused by contiguous spread of infection from local facial or eye li
dtrauma.
. It is often present with: eyelid swelling, tenderness, erythema or discolorat
ion.
. The presence of decreased eye movements, decreased visual acuity, proptosis o
r double vision is more suggestive of orbital cellulitis.
. Case of leukocoria (white reflex):
____________________________________
. Every case of leukocoria is considered a retinoblastoma, until proven otherwi
se.
. So, this child needs prompt referral to an ophthalmologist.
. Retinoblastoma is the most common intraocular tumor of childhood.
. The underlying pathology involves inactivation of the Rb suppressor gene, whi
ch may be familial or sporadic.
. Retinoblastoma is a highly malignant tumor, and failure to diagnose and treat
the disease early may lead to death from liver and brain metastases.
. The other manifestations of the disease may include strabismus, decreased vis
ion, ocular inflammation, eye pain, glaucoma, and orbital cellulitis.
. The diagnosis is highly suspected with US or CT scan findings of a mass with
calcifications.
. strabismus:
_____________
. an esodeviation (medial deviation of the eye), which is the most common type
of strabismus, representing over 50% of all cases.
. Strabismus is the most common cause of amblyopia.
. The cover test: asking the child to fix his sight on a target as the examiner
alternately covers one eye while observing the movement of the other.
. A normal eye keeps the same position and does not move, whereas a misaligned
eye shifts to refixate the object when the normal eye is covered.
. The standard of treatment is occlusion of the normal eye.
. This procedure forces the affected eye to correct itself in order to be prope
rly functional, thus stimulating proper visual maturation.
. In case the amblyopia is secondary to abnormalities of refraction, appropriat
e lenses should be prescribed so as to have a well-formed retinal image.
. The normal or less severely affected eye is then covered.
. If the amblyopia is caused by an opaque media, surgical removal of the media
should be performed .before occlusion therapy.
========================================================================= Neurol
ogy ==========================================================
. Night Terrors:
________________
. Occurs in young children 2-12 years during Non-REM sleep.
. Characherized by fear, craying or screaming, decreased level of consciousness
.
. and amnesia of the event next morning.
N.B.:
- Todd's palsy is characterized by transient hemiplegia that occurs after a sei
zure.
. Migraine headaches:
_____________________
. are the most common cause of headaches in the pediatric population, occurring
in 50% of cases before the age of 20 years.
. The aura can be visual (e g , blurred vision, scotoma, photophobia, distortio
n of objects) or
sensory (e g perioral paresthesia, numbness of extremities, shoulder pain, ab
dominal pain, otalgia).
. Migraine headache is a clinical diagnosis, and further investigations are not
usually indicated.
. Neuroimaging is required only when there are behavioral changes, decline in s
chool performance, decline in growth parameters,
early morning headaches, seizures, orabnormal neurologic findings.
. In complicated migraines, neurologic signs (e g , basilar signs, ophthalmople
gia, or hemiparesis) may be present, although the work-up reveals nothing abnorm
al.
. These neurologic symptoms may last only during the headache or persist for se
veral days or weeks.
. Brain abscesses:
_________________
. can present with fever, headache, focal neurologic changes, seizure, spastici
ty, or signs of increased intracranial pressure.
. Congenital heart disease (particularly right-to-left shunts), head trauma, in
fections of the jaw or mouth, infections of the face or scalp, meningitis, and
cranial instrumentation increase the risk of developing a brain abscess.
. Absence (petit mal) seizures:
_______________________________
. Characterized by a sudden cessation, without warning, of ongoing mental activ
ity.
. Each episode rarely lasts longer than 30 seconds.
. A typical absence seizure is characterized by brief (typically lasting for a
few seconds) periods of impaired consciousness.
. Patients may also present with automatisms, but do not have a post- ictal sta
te.
. Hyperventilation during the EEG reveals a generalized 3Hz spike-and-wave patt
ern on a normal background.
. Minor motor symptoms are common, but complex automations and clonic activitie
s do not occur.
. Best diagnosed with EEG studies.
. An EEG with activation procedures (hyperventilation, photic stimulation, slee
p) helps in further diagnosis and classification of seizures.
. Ethosuximide is used almost exclusively for childhood absence seizures & valp
roic acid is the 2nd choice.
.N.B:
- An atypical absence seizure lasts longer.
- The characteristic EEG pattern is slow spike-and-wave activity with a frequen
cy less than 2.5Hz
. Seizures:
___________
. Seizures are classified as partial or generalized:
A) Generalized seizures involve the brain diffusely from the beginning of the e
vent.
B) Partial seizures arise from a discrete focus in the brain.
. In Partial seizures there are initial symptoms related to a specific focus i
n the brain e.g. an unusual smell could be classified as an olfactory hallucinat
ion,
referred to as an "aura" which is indicative of a partial seizure arising fro
m a specific focus in the brain.
. Partial seizures can be further classified into simple partial seizures, com
plex partial seizures, and partial seizures with secondary generalization.

1. Simple partial seizures: No Loss of consciousness.
2. Complex partial seizure: Loss of consciosness (failure to respond to various
stimuli during the episode) + automatisms during their loss of consciousness
as chewing, picking movements of the hands, or lip smacking.
- The EEG pattern is usually normal or may show brief discharges.
. Partial seizure with secondary generalization: usually have tonic-clonic mani
festations.
. A post-ictal state lasting several hours can be seen with both complex partia
l seizures and partial seizures with secondary generalization so this is not
a helpful differentiating factor.
. The presence of blood-tinged sputum is suggestive that the patient bit his to
ngue and would make a partial seizure with secondary generalization more likely.
. Loss of bladder or bowel control is also more likely in seizures with seconda
ry generalization.
. Phenytoin & carbamazepine are used as first-line drugs for ttt of 1ry general
ized tonic-clonic seizures or partial seizures with or without 2ndry generalizat
ion.
. Todd's paralys:
_________________
. Represents a postictal condition that usually rapidly improves with restorati
on of motor function within 24 hours.
. May follow generalized as well as focal seizures.
. The exact pathophysiology of this condition is not well understood, but most
probably involves alteration in neuronal electrical activity.
. It indicates that a structural abnormality underlying the seizure is present.
. Cephalohematoma:
__________________
. Is a subperiosteal hemorrhage; hence, it is always limited to the surface of
one cranial bone.
. There is no discoloration of the overlying scalp, and swelling is usually not
visible until several hours after birth
because subperiosteal bleeding is a slow process.
. Most cases do not require any treatment and resorb spontaneously within 2 wee
ks to 3 months, depending on the size.
. Rarely, phototherapy may be necessary to improve the hyperbilirubinemia.
.N.B.: Caput succedaneum:
-------------------------
- is a diffuse, sometimes ecchymotic, swelling of the scalp.
- It usually involves the portion of the head presenting during vertex delivery
.
- It may extend across the midline and across suture lines.
. Parinaud's syndrome:
______________________
. Consists of paralysis of vertical gaze that may be associated with pupillary
disturbances and eyelid retraction (Collier's sign).
. The lesion is on the rostral midbrain at the level of the superior coll iculu
s and CN III.
. It is most commonly caused by germinomas and pinealomas at this region.
. The endocrine syndrome results from interruption of hypothalamic inhibiting p
athways, and sometimes beta-hCG secretion and consequent Leydig's cell stimulati
on.
.N.B.:
- In 90% of cases, medulloblastoma arises from the cerebellar vermis, and is no
t associated with Parinaud's syndrome.
- Neuroblastoma is the third most common malignancy in the pediatric population
, It arises mostly from the adrenal glands and sympathetic paraspinal ganglia.
- Although craniopharyngioma can also cause an endocrine syndrome, it results i
n visual field defects owing to its sellar location.
. Myotonic muscular dystrophy (MMD):
____________________________________
. an autosomal dominant disease which is also known as Steinert disease.
. It is the second most common muscular dystrophy in the United States.
. The pathology is distinct in that all types of muscles (i.e. smooth, striated
, cardiac) are involved.
. The patient initially appears normal at birth, then slowly develops muscle we
akness and progressive muscle wasting;
especially in the distal muscles of the hands, posterior forearm muscles, and
anterior compartment of the lower legs.
. The characteristic facial appearance: temporal wasting, thin cheeks, and an u
pper lip in the shape of an inverted V.
. Pertinent physical findings: emaciated extremities, atrophy of the thenar and
hypothenar eminences, proximal muscle weakness, positive Gowers sign,
winged scapula, and myotonia Myotonia is defined as delayed muscle relaxation
, and the classic example is the inability to release the hand after a handshake
.
. In addition, abnormalities of the endocrine, immunologic, and nervous systems
occur.
. Endocrine manifestations include diabetes mellitus, testicular atrophy, front
al baldness and hypothyroidism
. Breath holding spells:
________________________
. are episodes of apnea that are sometimes associated with a loss of consciousn
ess, and are precipitated by frustration, anger, or pain.
. These episodes usually occur in children ages 6-18 months.
. Classically, the child gets frustrated and holds their breath, which may lead
to loss of consciousness followed by spontaneous resolution.
. Unlike a seizure, there is no incontinence or postictal phase associated with
breath holding spells.
. These spells can be simple, cyanotic, pallid, or complicated.
. In a simple breath holding spell, there is no change in circulation or oxygen
ation.
. Cyanotic spells are associated with cyanosis during the spell, and may be ass
ociated with hypoxia and decreased blood flow to the brain.
. However, children with cyanotic breath holding spells usually have no long-te
rm adverse effects from the episode.
. Pallid spells usually occur after painful events or minor trauma, and the aff
ected child has pallor.
. Complicated breath holding spells are a more severe form of the cyanotic or p
allid types with associated seizure-like activity However, EEG is normal.
. Breath holding spells are diagnosed based on the clinical history.
. Since iron deficiency anemia may be associated with breath holding spells, pa
tients are generally tested to rule-out anemia as a predisposing cause.
. The most important step in managing affected patients is reassuring the paren
ts that the episodes are not harmful and will not have any long-term effects.
. No treatment is necessary for breath holding spells, and affected children wi
ll eventually stop having episodes.
. Anemic patients, however, should be treated with iron supplementation.
. Brain tumors:
_______________
. In the pediatric population, CNS tumors are the most common solid tumors and
the second most common malignancies (after leukemias).
. Approximately 60% of these tumors are infratentorial, 25% are supratentorial,
and 15% arise in the midline.
. Astrocytomas are the most common histologic type for both supratentorial and
infratentorial groups.
. Medulloblastoma:
__________________
. Is the second most common posterior fossa tumor (after cerebellar astrocytoma
) in children.
. It is highly radiosensitive and can metastasize through the CSF tract Over 90
% of medulloblastomas develop in the vermis.
. This patient has posterior vermis syndrome (truncal dystaxia & horizontal nys
tagmus).
. Craniopharyngioma:
_____________________
. A young boy with symptoms of increased intracranial pressure ( headaches, vom
iting), bitemporal hemianopia, & a calcified lesion above the sella has a
craniopharyngioma until proven otherwise.
. Craniopharyngiomas are derived from epithelial remnants of Rathke's pouch.
. It is not a true pituitary tumor, and is characterized by nests of squamous c
ells in a loose stroma, resembling the appearance of embryonic tooth bud enamel.
. Its location is suprasellar and inferior to the optic chiasm, which is why it
can cause bi-temporal hemianopia (by pressing the optic chiasm).
. Associated endocrine symptoms such as diabetes insipidus, and growth failure
associated with either hypothyroidism or growth hormone deficiency may occur.
. The diagnosis is usually made by (CT) or (MR): Presence of a cystic calcified
parasellar lesion on MRI is almost diagnostic of craniopharyngioma.
. Surgical removal is the treatment of choice.
. pituitary adenoma may present with similar symptoms; however, the condition i
s more frequent in women.
. Furthermore, prolactinoma is an important part of the syndrome, and calcifica
tion of the gland does not occur.
. Neurocutaneous syndromes:
___________________________
A) Type 1 neurofibromatosis:
----------------------------
. Characterized by cafe-au-lait spots, axillary freckles, Lisch nodules of the
iris, neurofibromas, and bony lesions.
B) Type 2 neurofibromatosis:
----------------------------
. Is associated with brain tumors, especially bilateral acoustic neuromas.
. Bilateral acoustic neuromas are diagnostic of neurofibromatosis.
. Patients with neurofibromatosis have a tendency to form tumors in the central
nervous system (CNS), peripheral nervous system, skin and viscera.
C) Sturge-Weber syndrome: A neurocutaneous syndrome
-------------------------
. Characterized by a congenital unilateral cavernous hemangioma along trigemina
l nerve distribution & intra-cranial calcifications that resemble a tramline in
X-ray.
. Also present with: focal or generalized seizures, mental retardation, and a p
ort wine stain or nevus flammeus along the branches of trigeminal nerve.
. Other pertinent findings are hemianopia, hemiparesis, hemisensory disturbance
, and ipsilateral glaucoma.
. Treatment is aimed at controlling the seizures and reducing intraocular press
ure Argon laser therapy is successful in removing the skin lesions.
D) Tuberous sclerosis:
----------------------
. Ash leaf hypopigmentation, cardiac rhabdomyomas, kidney angioleiomyomas, men
tal retardation, seizures.
N.B.:
- The characteristic features of neurofibromatosis 1: cafe-au-la it spots, macr
ocephaly, feeding problems, short stature, and learning disabilities.
. Patients may later develop fibromas, neurofibromas or different tumors.
- The characteristic features of neurofibromatosis 2: are bilateral acoustic ne
uromas and cataracts.
. Strokes in children:
______________________
. are uncommon but When they occur, they are often the result of a congenital a
bnormality, infection, or systemic illness.
. Many childhood strokes are caused by sickle cell anemia, and suspected by (pa
tient's race, history of dactylitis, and prior pain crisis are all consistent wi
th sickle cell disease).
. The mechanism of strokes in children with sickle cell anemia is not fully und
erstood, but RBCs adherence to the endothelium, activation of van Willebrand's f
actor,
and hyperviscosity are all thought to contribute.
. Acute strocke syndrome:
_________________________
. Children who have trauma to the soft palate with a sharp object can either co
mpress the internal carotid artery (causing a thrombosis that embolizes
to the brain and causes stroke) or dissect the internal carotid artery (leadi
ng to ischemic stroke).
. The onset of symptoms can be delayed up to 24 hours after the traumatic episo
de.
. The diagnosis should be suspected clinically and can be confirmed with MRl/MR
A of the brain.
. Treatment is somewhat controversial and ranges from close observation with su
pportive care to aggressive treatment with anticoagulation, with similar outcome
s.
. Epidural hematomas:
_____________________
. usually caused by injury to meningeal blood vessels & do not usually cross su
ture lines because of the better dural attachment at the sutures.
. The classic history of an epidural hematoma consists of a direct head injury
followed by a lucid interval and then
. rapid neurologic deterioration with headache, vomiting, seizures, confusion,
and lethargy.
. Affected patients can progress to coma and death due to herniation if not tre
ated.
. Infants with open fontanelles may present with bulging fontanelles, irritabil
ity, seizures, and hypotonia.
. Older children and adolescents usually present with more classic symptoms of
headache, vomiting, and deteriorating mental status.
. CT scan of the head is the diagnostic test of choice --> a biconvex mass.
. The key to evaluating a child with an epidural hematoma is to search for the
presence of clinical features that necessitate an emergent craniotomy.
. which include any of the following: GCS < 8, signs of increased ICP, pupillar
y abnormalities, hemiparesis, or cerebellar signs.
. Febrile seizure:
___________________
. Diagnostic Criteria of Febrile seizures:
- Seizure associated with a temperature >38C (1004F).
- Age <6 years.
- No CNS infection, No acute systemic metabolic cause of seizure & No history
of previous afebrile seizures.
. classified as: simple or complex.
. A simple febrile seizure is a generalized tonic-clonic seizure that lasts <15
minutes and usually occurs once in a 24-hour period.
. It does not cause permanent brain injury or significantly increase the child'
s future risk of epilepsy.
. Although febrile seizures can recur, children who experience simple febrile s
eizures are less likely to have a recurrence.
. A complex febrile seizure is diagnosed if the seizure is focal, lasts >15 min
utes, or occurs more than once with a total duration of seizure activity >30 min
utes.
. Children with complex febrile seizures are at increased risk for future febri
le or afebrile seizures, especially if there is family history of epilepsy in a
parent or sibling.
. Febrile seizures are associated with viral or bacterial infections (e.g. otit
is media) However, serious intracranial infections (e.g. meningitis) must be rul
ed out.
. Once an intracranial infection has been ruled out, the patient can be treated
for the fever and underlying infection.
. The patient can then be discharged home with parental education about the use
of antipyretics and seizure precautions.
. Cerebral palsy:
_________________
. Cerebral palsy is a non-progressive disorder characterized by impaired motor
functioning.
. The most common cause is cerebral anoxia.
. Present as: hypotonia, hyperactive deep tendon reflexes, learning disabilitie
s, along with an intrapartum history of prolonged labor and low APGAR scores at
birth.

. Hydrocephalus:
________________
. Symptoms: Poor feeding, irritability, decreased activity, Vomiting.
. Physical examination: Tense and bulging fontanelle, Prominent scalp veins, wi
dely spaced cranial sutures, rapidly increasing head circumference.
. The best diagnostic approach in symptomatic children with rapidly increasing
head circumference is to perform diagnostic imaging.
. A CT scan of the brain is the best initial choice in an infant who is acutely
symptomatic & will reveal ventricular dilation as well as the infant's anatomy.
. In otherwise stable and asymptomatic infant, a sedated MRI could be considere
d to spare the child radiation exposure.
. Both CT and MRI provide greater detail than ultrasound, which requires a wide
ly open anterior fontanelle and is most useful in infants under 6 months.
. Treatment: a shunt that is placed from the ventricle to the peritoneum, pleur
a, or right atrium; which allows the excess CSF to drain.
. Guillain-Barre syndrome:
___________________________
. Suspect Guillain-Barre syndrome in a child who presents with an ascending pol
yneuropathy one week after an apparent viral infection (e.g. diarrhea).
. The underlying pathology involves mainly the peripheral motor nerves, althoug
h sensory and autonomic nerves may also be affected.
. Friedreich Ataxia:
_____________________
. an autosomal recessive condition and genetic counsel ing is recommended for p
renatal diagnosis for parents with one affected child.
. FA is associated with necrosis and degeneration of cardiac muscle fibers lead
ing to myocarditis, myocardial fibros is and cardiomyopathy.
. Cardiac arrhythmia and congestive heart failure contribute to a significant n
umber of deaths.
. Klumpke's paralysis:
_____________________
. is a brachial palsy that occurs in newborns following excessive traction on t
he arm.
. It consists of hand paralysis and ipsilateral Homer's syndrome (ptosis and mi
osis).
. It is secondary to injury to seventh and eighth cervical nerves and first tho
racic nerve.
. Confirmation MRI, which demonstrates nerve root avulsion or rupture.
. Treatment depends on the severity of the injury and, generally, it consists o
f partial immobilization and appropriate positioning to prevent contractures.
. Gentle massages and range-of-motion exercises can be started by 7-10 days of
age.
. If by 3-6 months there is no improvement, neuroplasty, neurolysis, end-to-end
anastomosis, and nerve grafting may be attempted.
. Erb-Duchenne palsy:
_____________________
. is another type of brachial palsy in which the injury involves the fifth and
sixth cervical nerves.
. It presents with: absent Moro reflex and intact grasp reflex of the affected
arm.
. Patients present with a characteristic position, which consist of adduction a
nd internal rotation of the arm with pronation of the forearm.
. Subarachnoid hemorrhage (SAH):
________________________________
. SAH can be caused by an intraventricular hemorrhage, which is common in prema
ture infants.
. Accumulation of the blood in the subarachnoid space may lead to destruction o
f the arachnoid villi and cisterns, thereby blocking the flow or decreasing the
absorption of CSF, and leading to communicating hydrocephalus.
. SAH is the most common cause of communicating hydrocephalus.
. CT scan: dilation of the entire ventricular system with distinct enlargement
of the subarachnoid space over the cerebral cortex is very suggestive of nonobst
ructive
or communicating hydrocephalus secondary to a subarachnoid hemorrhage (SAH).
.N.B:
- Dandy-Walker anomaly and Chiari malformation will both reveal CT findings con
sistent with obstructive or noncommunicating hydrocephalus.
. Dandy-Walker Anomaly will demonstrate a cystic expansion of the fourth ventri
cle, and Chiari malformation will reveal protrusion
of the structures of the posterior fossa through the foramen magnum.
===============================================================================
Hematology ===========================================================
. Acquired aplastic anemia:
___________________________
. present by: Normocytic or macrocytic anemia, Leukopenia, reticulocytopenia an
d thrombocytopenia.
. B.M. biopsy (essential for diagnosis) --> profound hypocellularity in all cel
ls with fatty infiltration.
. Result from B.M. supression due to acquired or congenital causes:
A) Acquired Causes of Aplastic Anemia:
- Idiopathic.
- Drugs (e.g, NSAIDs, sulfonamides, etc).
- Toxic chemicals (e.g. benzene, glue, etc ).
- Viral infections (e.g. HIV, EBV, etc ).
- Immune disorders.
- Thymoma.
B) Congenital causes of aplastic anemia --> Fanconi's anemia.

. Fanconi's anemia:
____________________
. are more common in children, and Fanconi anemia (FA) is the most common conge
nital cause.
. It is an autosomal recessive or X-linked disorder associated with the clinica
l manifestations summarized below.
. Most patients with FA are diagnosed by the age of 16 years and have a predisp
osition for developing cancer.
. Numerous genes, all believed to involve DNA repair, have been implicated.
. Bone marrow: Aplastic anemia and progressive bone marrow failure.
. Appearance: Short stature, microcephaly, abnormal thumbs, upper limb anomalie
s, renal malformations and hypogonadism.
. Skin: Hypopigmented/hyperpigmented areas, cafe au lait spots, and large freck
les.
. Eyes/ears: Strabismus, low-set ears, and middle ear abnormalities (e.g. hemor
rhage, incomplete development, chronic infections, deafness, etc ).
. Diagnosis of FA is made by chromosomal breaks on genetic analysis combined wi
th the clinical findings.
. The patient likely has bleeding secondary to thrombocytopenia, fatigue from m
acrocytic anemia, and pounding in his ears
from possible conduction deifects or chronic hemorrhage.
. The definitive treatment for aplastic anemia is hematopoietic stem cell trans
plantation.
. Blood counts start to decrease at the age of 4-12 years.
. Intial manifestations: Thrombocytopenia followed by neutropenia then anemia.
. Diamond-Blackfan anemia (DBA): congenital hypoplastic anemia
______________________________
. Congenital pure red cell aplasia.
. Macrocytic anemia, low reticulocyte count, and congenital anomalies.
. The majority of cases are sporadic, although dominant and recessive inheritan
ce is found in 15 % of cases.
. The primary pathology is an intrinsic defect of erythroid progenitor cells wh
ich results in increased apoptosis.
. Present in the 1st 3 months with pallor and poor feeding.
. Congenital anomalies: Cleft palate, webbed neck, sheilded chest, triphalangea
l thumbs and cardiac anomalies.
. The macrocytic anemia of DBS is distinct from that of megaloblastic anemia as
there is no hypersegmentation of the nucleus in neutrophils & other blood cells
in the former.
. Electrophoresis reveals elevated fetal Hb levels
. Chromosomal studies are normal.
. Therapy is mainly corticosteroids. For unresponsive patients, transfusion the
rapy is indicated.
. CBC --> Normocytic or macrocytic anemia with reticulocytopenia.
. WBCs and Platelet counts are normal.

. Transient Erythroblastopenia of childhood (TEC):
__________________________________________________
. Acquired red cell aplasia which occurs in healthy children between 6 months a
nd 5 years.
. Gradual onset of symptoms as pallor and dcreased activity.
. Lab. --> Normocytic normochromic anemia with Hb level 3-8 mg/dl and extremely
low reticulocytic count.
. Glucose-6-phosphate dehydrogenase (G6PD) deficiency:
__________________________________________________
. The most common RBC enzyme deficiency causing anemia is (G6PD) deficiency.
. In affected patients, oxidant drugs (e g , antimalarials and sulfas) and infe
ction can cause episodic hemolysis.
. Thalassemias:
_______________
. Autosomal recessive disorders of hemoglobin seen most commonly in people of M
editerranean descent.
. Clinical symptoms can range from minor to severe depending on the number of g
lobin chains that are affected.
. Individuals with thalassemia trait usually have no symptoms and are diagnosed
when routine laboratory studies reveal a microcytic anemia with a normal RDW.
. Clinically, thalassemia is confused with iron deficiency anemia; If microcyti
c anemia does not respond to empiric oral iron therapy, iron studies should be d
one.
. If the patient has normal iron studies, which rules out iron deficiency and m
akes thalassemia trait much more likely.
. Hemoglobin electrophoresis can be performed to confirm the diagnosis.
. For individuals with thalassemia trait, no treatment is usually necessary.
. Sickle cell disease:
______________________
. Characterized by chronic hemolysis of sickled cells, leading to a high RBC tu
rnover and anemia.
. Patients with sickle cell anemia will have sickle cells and reticulocytes on
their peripheral blood smear.
. Reticulocytes are present because the bone marrow is attempting to compensate
for the chronic hemolysis characteristic of sickle cell anemia.
. Painful crisis, the most common manifestation of sickle cell anemia.
. These episodes due to intermittent vasoocclusion in connective tissue & muscl
e, are characterized by severe acute pain & tenderness, fever, tachycardia, and
anxiety.
. Hemolysis is mainly extravascular and leads to reticulocytosis, hyperbilirubi
nemia and elevated serum LDH with low serum haptoglobin.
. The hematocrit is generally 20-30 percent, owing to the decreased RBC volume.
. Iron deficiency anemia is not common in SCD as the hemolysis of RBC is extrav
ascular, and the iron is usually restored and reused;
. however, iron deficiency secondary to increased utilization or urinary iron l
oss can be present in up to 20% of patients.
. Megaloblastic anemia occurs in vitamin B12 or folic acid deficiency, which is
not usually seen with SCD;
although folate deficiency secondary to increased folate utilization can be s
een in some individuals.
. Anemia of chronic disease may occur in SCD if iron reuptake and use is decrea
sed due to infection, inflammation or some chronic illness.
. Iron deficiency, folate deficiency, and anemia of chronic disease occur less
frequently in SCD patients.
. Sideroblastic anemia is seen in inherited or acquired defects affecting the b
iosynthesis of heme within red cell precursors not related to SCD.
. Salmonella and Staph aureus are the most common cause of osteomyelitis in pat
ients with sickle cell disease.
. Pneumococcal vaccination plus penicillin prophylaxis can prevent almost all c
ases of pneumococcal sepsis in patients with sickle cell anemia.
. Those with sickle cell trait have some protection against malaria.
. Complications of sickle cell disease:
--------------------------------------
. Sickle cell disease is a chronic, well-compensated hemolytic anemia with appr
opriate reticulocytosis.
. An acute drop in hemoglobin is can occur secondary to a hyperhemolytic crisis
, splenic sequestration, or an aplastic crisis.
1. An aplastic crisis: a transient arrest of erythropoiesis that results in a se
vere drop in hemoglobin and virtual absence of reticulocytes on peripheral smear
(reticulocytes < 1%).
. It may be caused by infections such as parvovirus 819.
. Treatment generally consists of a blood transfusion.
. It is important to note that an aplastic crisis in sickle cell disease differ
s from aplastic anemia, which occurs in other patients & characterized by pancyt
openia.
2. A hyperhemolytic crisis: is a rare complication of sickle cell disease that i
s characterized by sudden, severe anemia accompanied by an appropriate reticuloc
ytosis.
3. Splenic sequestration: occurs in sickle cell patients who have not yet develo
ped auto-splenectomy.
. This is caused by vasoocclusion and pooling of red cells within the spleen, w
hich may lead to severe hypotensive shock.
. It is characterized by a dramatic drop in hemoglobin concentration that is ac
companied by persistent reticulocytosis.
. The classic physical examination finding is a rapidly enlarging spleen.
. Splenic sequestration carries a mortality of 10-15% and a 50% chance of recur
rence, so splenectomy is usually recommended after the first episode.

4. Acute chest syndrome: is characterized by the presence of fever, chest pain,
and an infiltrate on chest X-ray.
. The etiology of acute chest syndrome is thought to be multifactorial and rela
ted to pulmonary infarction and infection.
. While a drop in hemoglobin may be seen, severe anemia without associated reti
culocytos is is not seen in acute chest syndrome
5. A vasoocclusive (painful) crisis: is characterized by acute onset of pain and
is caused by vasoocclusion secondary to the sickling of red blood cells.
. These crises may be precipitated by changes in weather, dehydration, or infec
tion.
. Treated by adequate hydration and opioid analgesics.
. Hydroxyurea is indicated in sickle cell patients with frequent, acute, painfu
l episodes, as it tends to increase the Hb F levels.
. Hb F: retard sickling, so increased HbF levels lead to reduced sickling of re
d blood cells and consequently, decrease episodes of vaso-occlusion.
. Severe anemia and a low reticulocyte count are not seen in vasoocclusive cris
es
.N.B:
- patient has sickle cell trait, which is characterized by a Hb S concentration
ranging from 35-40% (sickle cell disease Hb S > 40%).
- Individuals with sickle cell trait have a heterozygous genotype (AS) and are
generally asymptomatic.
- Symptoms occur very rarely, and the most common of these is painless hematuri
a.s
- In a patient with a chronic hemolytic anemia and compensatory reticulocytosis
, increased demand for folic acid can lead to folic acid deficiency,
- For this reason, patients with sickle cell anemia should be on folic acid sup
plementation
- vitamin B12 is also required However, in contrast to folic acid, B12 stores c
an be adequately maintained by most every patient via diet alone.
. Hereditary Spherocytosis:
___________________________
. Is a common cause of hemolysis and hemolytic anemia in the newborn.
. Indicators of hemolysis: reticulocytosis and hyperbilirubinemia.
. A positive Coombs' test points towards autoimmune hemolytic anemia, and a pos
itive osmotic fragility test indicates hemolysis confirms hereditary spherocytos
is.
. The peripheral smear may reveal anisocytosis and polychromatophilic reticuloc
ytes and spherocytes.
. Severe anemia and hyperbilirubinemia may require phototherapy or exchange tra
nsfusions.
. HS is an autosomal dominant trait and is the most common hereditary hemolytic
anemia in white population.
. There is congenital RBC membrane defect in HS resulting in extravascular hemo
lysis occurring only in the presence of spleen.
. The osmotic fragility test is the next best test for the diagnosis of the pat
ient.
.N.B: Other types of anemia:
----------------------------
1- Iron deficiency anemia often presents with pallor, pica, and fatigue, althou
gh these symptoms are often not present in children.
- Laboratory studies typically show a microcytic, hypochromic anemia with a lo
w reticulocyte count, high ROW, low serum iron, high TI BC, and low serum ferrit
in.
2- Anemia of chronic disease is unlikely in a child with no medical problems.
- This type of anemia can be normocytic or microcytic, and laboratory studies
will show a low serum iron and low TIBC.
3- Vitamin B12 deficiency presents as a macrocytic anemia with an elevated MCV.
4- Reticulocytosis is a physiologic response of the bone marrow to anemia provi
ded adequate iron stores are present.
5- In hemolytic anemia (spherocytosis), the reticulocyte counts are much higher
(sometimes as high as 9%) Spherocytosis is unlikely with just 3% reticulocyte c
ount.
.N.B.:
- Approximately 5%- 15% of the patients with thymic tumors have pure red cell a
plasia, This finding is most common in older women.
- Sugar water test is done for the diagnosis of Paroxysmal Nocturnal Hemoglobin
uria (PNH).
. Anemia of premature infant:
_____________________________
. Premature, 8 weeks of age, pallor is suggestive of mild anemia.
. This condition usually presents at the second or third month of life, and the
common symptoms and signs are pallor, tachycardia, and tachypnea.
. Although the infant may be getting iron via breast feeding, iron supplementat
ion in the form of oral ferrous salts or iron-fortified milk formula is still wa
rranted.
. Anemia of prematurity:
_________________________
. is the most common anemia in premature and low birth weigh infants.
. The pathology involves a combination of diminished RBC production, shortened
RBC life span, and blood loss.
. Iron supplementation does not prevent falling hemoglobin levels, and iron def
iciency is not the cause of anemia of prematurity.
. The treatment involves iron supplementation, periodic hemoglobin checking and
blood transfusion, if needed. Erythropoietin is not routinely used.
. Iron deficiency anemia:
_________________________
. is common in infants and toddlers who drink excessive amounts of cow's milk.
. Empiric oral iron therapy is appropriate for children with microcytic, hypoch
romic anemia.
. Term infants usually have adequate iron stores to sustain them for the first
six months of life.
. After six months, dietary factors (insuffic ient intake, malabsorption) becom
e the most important cause of iron deficiency.
. Early introduction to or excessive intake of cow's milk is of particular conc
ern because cow's milk is low in iron and can cause occult intestinal blood loss
in infants.
. Children should not be started on cow's milk until one year of age,
. Microcytic anemia:
____________________
. caused by iron deficiency can often be differentiated from thalassemia by an
elevated RDW, which is typically greater than 20% in iron deficiency.
. The reticulocyte count is low in patients with iron deficiency due to decreas
ed erythropoiesis.
. N.B: Howell-Jolly bodies:
------
. These bodies are nuclear remnants within RBCs that are typically removed by t
he spleen.
. They are present on peripheral blood smear as single, round, blue inclusions
on Wright stain.
. Their presence indicates physical absence of spleen or functional hyposplenis
m due to splenic autoinfarction, infiltrative disorders of spleen, or splenic co
ngestion.
. Leukemia:
___________
. Leukemic patients can present with numerous infections, diarrhea and failure
to thrive.
. Although such patients present with more serious bacterial and fungal infecti
ons.
. Hepatomegaly and splenomegaly may be found.
. Laboratory studies reveal: leukocytosis, thrombocytopenia and anemia. Other f
indings may include hyperuricemia,hyponatremia, elevated LDH and hypokalemia.
. Acute lymphoblastic leukemia:
______________________________
. Acute lymphoblastic leukemia is the most common leukemia in children.
. The first symptoms are nonspecific: anorexia, irritability and lethargy.
. Patients may have a history of viral respiratory infection or exanthem from w
hich they do not fully recover.
. On physical examination, there may be pallor, hepatosplenomegaly, petechiae,
and/or lymphadenopathy.
. Diagnosis of leukemia is suggested by presence of anemia, thrombocytopenia an
d blast cells on peripheral blood smear, but is confirmed by B.M. examination.
. Lymphoblasts lack peroxidase positive granules but often contain cytoplasmic
aggregates of periodic acid Schiff (PAS) positive material.
. Immunostaining for terminal deoxynucleotidyltransferase (TdT) is positive in
more than 95% of patients TdT is expressed only by pre B and pre T lymphoblasts.
. Myeloblasts on the other hand contain peroxidase positive material.
. Acute myeloid leukemia (AML):
______________________________
. Seen more commonly in adults.
. It can present similarly to ALL with anemia, thrombocytopenia and high WBC co
unt.
. The main differentiating and diagnostic factor is demonstration of greater th
an 25% of myeloblasts in the bone marrow.
. Chronic lymphocytic leukemia (CLL):
__________________________________
. usually presents in elderly patients.
. with fatigue, lymphadenopathy and splenomegaly.
. Labs show lymphocyte count of greater than 5000/mm3, made of mature-appearing
cells.
. Hodgkins' disease (HD):
_________________________
. The most common presenting sign is Painless, firm, cervical or supraclavicula
r adenopathy.
. Depending on the extent and location of nodal and extranodal disease, there m
aybe symptoms and signs of airway obstruction, pleural or pericardial effusion,
hepatocellular dysfunction, or bone marrow infiltration.
. Although signs and symptoms are similar to ALL, presence of lymphoblasts make
s ALL most probable.
. Burkitt lymphoma:
___________________
. It is a neoplasm of mature B cells. It is associated with the Epstein-Barr vi
rus infection.
. Most patients present with either a mass involving the mandible or abdominal
viscera.
. High mitotic index is typical. Histological examination shows characteristic
"starry sky appearance".
. It is a very aggressive tumor but responds well to the high dose chemotherapy
.
. Myelodysplastic syndromes (MOS):
__________________________________
. They are clonal stem cell disorders which may progress to acute leukemias.
. These are usually seen in elderly patients, and are characterized by pancytop
enia.
. Henoch-Schonlein Purpura:
___________________________
. Is an lgA-mediated vasculitis of small vessels, affecting children more than
adults.
. Many cases follow an upper respiratory tract infection.
. The clinical manifestations: a classic tetrad of rash, arthralgias, abdominal
pain, and renal disease.
. The rash is typically purpuric and distributed symmetrically over the lower l
egs, buttocks and arms.
. Arthralgias most commonly affect the knees and ankles, these symptoms are alw
ays transient, and there is no permanent damage to the joints.
. GIT symptoms most commonly colicky abdominal pain (mostly due to local vascul
itis) that is frequently associated with vomiting,
. Two common pathologies which should be ruled out emergently are GI bleeding a
nd intussusception ( a surgical emergency, and is treated with air/barium enema)
.
. Renal involvement relatively mild disease characterized by asymptomatic hemat
uria & proteinuria with a normal or slightly elevated plasma creatinine; however
,
. More marked findings may occur including the nephrotic syndrome, hypertension
, & acute renal failure (treatment includes steroids and monitoring of renal fun
ction).
. Other organs as the lung and central nervous system, may be involved.
. Confirmation of the diagnosis requires evidence of tissue deposition in the s
kin or kidney of lgA by immunofluorescence microscopy.
N.B.:
1- Minimal change disease: electron microscopy uasually shows Podocyte fusion i
n the glomerulous.
2- Membranous nephropathy: electron microscopy shows Glomerular basement thicke
ning & is considered the most common cause of adult nephrotic syndrome.
3- focal segmental glomerulosclerosis: electron microscopy shows Focal and segm
ental sclerosis.
4- Goodpasture's syndrome: electron microscopy shows Linear deposition of lgG o
n the basement membrane is seen.
. Lymphadenitis in children:
_____________________________
. Cervical lymphadenopathy is common in children.
. Lymphadenitis is diagnosed when the lymph node becomes tender and erythematou
s in addition to being enlarged.
. Lymphadenopathy maybe acute or subacute/chronic, and unilateral or bilateral.
. Acute, unilateral lymphadenitis in children is usually caused by bacterial in
fection.
. Staphylococcus aureus is the most common followed by group A streptococcus.
. Patients with bacterial lymphadenitis are usually less than 5 years old and n
ontoxic appearing.
. The affected lymph node is tender, warm, erythematous, and usually 3 to 6 cm
in size.
. In some cases, the infection can progress to induration and fluctuance.
N.B.: Other causes of unilateral lymphadenitis:
1- Tularemia: caused by Francisella tularensis, can present with acute unilater
al cervical lymphadenopathy Affected children.
. usually have fever, chills, headache, and malaise in addition to the lymphad
enopathy.
. In addition, tularemia is a zoonosis and presents after contact with an infe
cted animal (e g rabbits, hamsters, or blood-sucking arthropods).
2- Peptostreptococcus is an anaerobic bacteria that can cause acute, unilateral
lymphadenitis However,
it is usually seen in older children with a history of periodontal (gum) dis
ease.
3- Nontuberculous mycobacteria (most commonly Mycobacterium avium-intracellular
e)
. are one cause of unilateral subacute-chronic lymphadenopathy Affected childr
en are usually less than 5 years old and
. present with firm, nontender lymphadenopathy that is usually less than 4 cm
in size.
. The skin over the lymph node often thins and develops a violaceous color.
. Fever and tenderness are unusual with this infection.
4- Epstein-Barr virus usually presents with bilateral subacute-chronic lymphade
nopathy along with
systemic symptoms such as fever, pharyngitis, hepatosplenomegaly and lymphoc
ytosis.
. GeneticB-cell deficiencies:
_____________________________
. Patients with genetic B-cell deficiencies begin to develop recurrent infectio
ns after passing 6 months (when the newborn's levels of maternal antibodies drop
).
. The deficient humoral immune response in these patients impairs the body's ab
ility to destroy encapsulated organisms.
. Hence, recurrent sinopulmonary infections with H. influenzae and S. pneumonia
e are common.
. Lack of lgA also predisposes to Giardia infection.
. Severe combined immune deficiency (SCID):
__________________________________________
. is a life-threatening syndrome due to adenosine deaminase deficiency & is an
autosomal recessive.
. Patients typically present with recurrent sinopulmonary infections, oral cand
idiasis, persistent diarrhea, opportunistic infections and viral infections.
. The diagnosis is confirmed by the following clinical features absent lymph no
des and tonsils, lymphopenia, absent thymic shadow on chest x-rays,
. Lymphopenia is a classic finding.
. And abnormal T, B, and natural killer cell enumeration by flow cytometric ana
lysis.
. Bruton's agammaglobulinemia: X-linked agammaglobulinemia
______________________________
. Also known as X-linked agammaglobulinemia
. is an X-linked recessive disorder characterized by a defect in Bruton's tyros
ine kinase, a signaling molecule expressed in B cells.
. Patient's presentation is classic a male infant who is initially asymptomatic
until 6-9 months of age,
after which he begins to experience recurrent pyogenic (S. pneumoniae and H.
influenzae) infections.
. absent tonsils and other palpable lymphoid tissue
. There is normal number of T lymphocytes (CD3-positive) but a very low number
of B lymphocytes (CD19-positive).
. The low number of B lymphocytes leads to decreased immunoglobulin (Low Serum
lgG, lgM and lgA), causing decreased ability of immune system to attack bacteria
.
. The maternal lgG antibodies are responsible for keeping the infant free from
infections in the first 6-9 months of life.
. The diagnosis is confirmed by decreased serum concentrations of lgG, lgA, lgM
and lgE, along with absent or markedly decreased B cells on the smear.
. Treatment intravenous immune globulin ( IVIG) infusion.
. Fortunately, patients receiving regular infusions of IVIG may have an almost
normal life.
. Hyper-lgM syndrome (HIM):
____________________________
. Characterized by high levels of lgM with deficiency of lgG, lgA and poor spec
ific antibody responses to immunizations.
. HIM presents with recurrent sinopulmonary infections and Pneumocystis jirovec
i pneumonia.
. The unique susceptibility to opportunistic infections and neutropenia, with h
igh lgM levels, distinguishes HIM from XLA or other hypogammaglobulinemias.
. Common variable immunodeficiency (CVID):
__________________________________________
. Also known as acquired hypogammaglobulinemia.
. Similar presentation to Bruton's agammaglobulinemia; however, patients with (
CVID) usually manifest with less severe symptoms at a later age (about 15-35-yrs
old).
. The serum concentrations of lgG, lgA, lgM and lgE may also be decreased, but
there is no absence or decrease in the number of circulating B cells.
. Furthermore, there is no sexual predominance in CVID.
. Transient hypogammaglobulinemia (THI):
________________________________________
. Characterized by decreased lgG levels, normal lgA levels, and variable lgM le
vels.
. These immunoglobulin levels all normalize by 6-11 months of age.
. lgA deficiency:
_________________
. Selective lgA deficiency is characterized by decreased lgA levels (less than
50mcg/ml) with normal serum concentrations of other immunoglobulins,
although lgG2 subclass deficiency may occur.
. There is no other evidence of any immune defects.
. Patients commonly present with respiratory, gastro intestinal, and genitourin
ary infections + transfusion reaction.
. Recurrent sinopulmonary (Streptococcus & Hemophilus) and GI infections (Giard
ia), a consequence of lgA's role in mucosal barrier protection.
. Patients with lgA deficiency may also form antibodies to lgA, predisposing th
em to anaphylactic transfusion reactions.
. DiGeorge syndrome:
____________________
. DiGeorge syndrome is an example of a contiguous gene syndrome in which neighb
oring genes on a chromosome are deleted.
. DiGeorge syndrome is specifically caused by the microdeletion of 22q11.
. The underlying pathology is a defect in the development of the 3rd and 4th ph
aryngeal pouches, leading to: cyanotic heart disease,
. craniofacial skeleton anomalies (low-set ears and micrognathia), absent thymu
s, absent parathyroid glands, recurrent infections, or cognitive impairment.
. Absence of the parathyroid glands result in hypocalcemia; therefore, the pati
ent's calcium levels must be monitored during surgery.
. Prolonged QT intervals may be caused by hypocalcemia.
. Severe calcium deficiency can lead to laryngeal spasm, convulsions (a neonate
with hypocalcemic seizures), and cramping.
. Thymic aplasia and consequent T cell deficiency, these children are susceptib
le to fungal infections.
. Other congenital defects are esophageal atresia, anomalies of the great vesse
ls, mandibular hypoplasia.
. Chronic granulomatous disease (CGD):
_______________________________________
. Is a defect of phagocytic cells due to dysfunction of the NADPH oxidase enzym
e complex (impaired oxidative metabolism within the phagocytes) leading to:
. Recurrent and uncontrolled infections with catalase-positive organisms, as S.
aureus, Serratia marcescens, Burkholderia cepacia, Klebsiella, and Aspergillus
sp.
. Patients are not susceptible to catalase-negative organisms (Streptococcus py
ogenes, Streptococcus pneumoniae, and Haemophilus influenzae).
. CGD should be suspected in all patients presenting with unexplained infection
s caused by Aspergillus, Serratia marcescens, and Burkholderia cepacia.
. The most common findings are lymphadenopathy, hypergammaglobulinemia, hepatom
egaly, splenomegaly, anemia of chronic disease,
underweight, chronic diarrhea, short stature, gingivitis, and dermatitis.
. Neutrophilic functions such as chemotaxis, phagocytosis and degranulation are
intact in these patients; only intracellular killing is deficient.
. Thus neutrophils filled with bacteria are a classic finding on Gram stain.
. The diagnosis is made by nitroblue tetrazolium (NBT) slide test, flow cytomet
ry, or cytochrome C reduction.
. Treatment includes prevention of infection with daily trimethoprim-sulfametho
xazole and gamma-interferon three times a week.
. Bone marrow transplantation is experimental but curative.
. Wiskott-Aldrich syndrome (WAS):
__________________________________
. An X-linked disorder characterized by the triad of thrombocytopenia, eczema,
and recurrent bacterial infections.
. Recurrent infections are usually due to Streptococcus pneumoniae, Neisseria m
eningitidis, and Haemophilus influenzae.
. The thrombocytopenia is caused by decreased platelet production, and the few
platelets that exist are typically quite small.
. Platelet counts in patients with WAS are typically less than 50,000/mm3 and t
he mean platelet volume is also usually reduced.
. Decreased platelet production is the primary pathophysiologic cause of thromb
ocytopenia in patients with WAS.
. Idiopathic thrombocytopenic purpura ( ITP):
_____________________________________________
. An immune-mediated disorder caused by antibodies that bind to platelets and f
acilitate their removal from the circulation.
. Affected children typically present with easy bruisability or bleeding.
. Intraventricular hemorrhage ( IVH):
_____________________________________
. IVH is most commonly seen in premature and LBW infants.
. Patients may present with pallor, cyanosis, hypotension, seizures, focal neur
ologic signs, bulging or tense fontanel, apnea and bradycardia.
. However, many cases remain asymptomatic, thus mandating transfontanel ultraso
und for all newborns with predisposing risk factors.
. Studies have shown that the incidence of IVH is inversely proportional to bir
th weight (the lower the birth weight, the greater the likelihood of IVH).
. Pelvic dystocia, prenatal infections, congenital anomalies, and macrosomia ar
e not directly incriminated in IVH.
. Hemorrhagic disease of the newborn (HDN):
___________________________________________
. Routine perinatal care, includes parenteral injection of vitamin K after deli
very.
. This shot is given to prevent hemorrhagic disease of the newborn (HON), a pot
ential consequence of vitamin K deficiency.
. Humans obtain vitamin K from two sources diet and via the gut flora.
. Deficiency in newborn babies is the result of poor placental transfer, absent
gut flora, and inadequate levels in breast milk.
. HDN results from deficiency of vitamin K-dependent clotting factors (II, VII,
IX, X).
. Signs include bruising, bloody stools, and (less commonly) intracranial hemor
rhage.
. Prolonged PT and PTI support the diagnosis, but the diagnosis is confirmed by
reversal of symptoms with vitamin K administration.
. Mild vitamin K deficiency may present with an elevated PT level and a normal
PTT level.
. Polycythemia:
_______________
. Defined as a central venous hematocrit level greater than 65%.
. The most common cause of polycythemia in term infants is delayed clamping of
the umbilical cord resulting in excess transfer of placental blood.
. As the hematocrit rises, the viscosity of the blood increases as well as the
arterial oxygen content, this change in blood flow may affect various organs.
. In newborns, the hematocrit level peaks within 12 hours of birth and then dec
reases over the subsequent 12 hours.
. Not all infants with polycythemia become symptomatic However, symptomatic inf
ants may present with manifestations to any organ.
. The most common findings are plethora and CNS disturbances like lethargy, irr
itability, jitteriness, and seizures.
. Other common symptoms are respiratory distress, tachypnea, and cyanosis, caus
ed by the decrease in pulmonary blood flow due to the hyperviscosity of blood.
. Poor feeding, hypoglycemia, and hypocalcemia are also commonly seen in polycy
themic infants.
. Treatment includes hydration and, if symptomatic, partial exchange transfusio
n.
. Purpura in children:
______________________
. The common causes of purpura in children: thrombocytopenia, clotting factor d
eficiencies, and vasculitis.
. Nearly 2.5% of the normal population have a platelet count of< 150,000/?L, an
d clinical manifestations of thrombocytopenia (e g petechiae, purpura) usually d
o
not occur unless the platelet count is < 100,000/?L.
. Common clotting factor deficiencies causing purpura in children: van Willebra
nd disease, hemophilia A (factor VIII deficiency) & hemophilia B (factor IX defi
ciency).
. These conditions do not usually cause abdominal pain and other renal findings
(proteinuria).
. If there is no thrombocytopenia (paltelets > 100.000), then vasculitis should
be high in suspecious, especially if there is no abdominal pain or renal affect
ion.
. Henoch Schonlein purpura (HSP): a small vessel vasculitis that usually presen
ts with the classic tetrad
. lower extremity palpable purpura, arthritis/arthralgias, abdominal pain, and
renal disease.
. HSP is the most common form of systemic vasculitis in children.
. 50% of patients develop HSP after upper respiratory infection & have other no
nspecific symptoms as subcutaneous edema, joint pains, bloody stools, and scrota
l edema.
. Small bowel intussusception is a common complication of HSP.
. Laboratory testing is usually normal (including a normal platelet count), alt
hough hematuria or proteinuria may be found.
. Diagnosis is usually based on clinical findings, and skin biopsy is rarely ne
cessary.
. Treatment is usually supportive, but NSAIDS are sometimes given to abdominal
pain.
.N.B: Purpura fulminans:
- seen with bacterial infections (e.g. N. meningitidis, S. pneumoniae) However
, patients are usually very ill with fever, hypotension, and evidence of DIC.
. Immune thrombocytopenia:
________________________
. usually occurs in children between 2 and 6 years of age.
. The pathogenesis involves antibodies that bind to platelets, and subsequent d
estruction of these complexes in the spleen.
. The condition is usually preceded by a viral infection and presents with purp
ura, petechiae, hematuria or GI bleeding & there is no adenopathy.
. Laboratory studies usually show no abnormalities, except thrombocytopenia.
. The course is self-l imited, and spontaneous recovery occurs in the majority
of patients.
. There is controversy on treatment, but corticosteroids are drugs of choice in
all age groups for thrombocytopenia less than 30,000/mm3, and/or for severe sym
ptoms.
. Patients with a platelet count of more than 30,000/mm3 usually have very few
symptoms and do not require treatment (Observation).
. Hemophilia:
_____________
. Presence of spontaneous hemarthrosis and soft tissue hematomas raise the susp
icion for hemophilia, for which factor VI 11 assay is diagnostic.
. Spontaneous hearthrosis is very unlikely with any other form of bleeding diso
rder, including Von Willebrand's disease.
. The best next step is a complete set of coagulation studies followed by facto
r VIII and IX levels.
. Prolonged PTI, normal prothrombin time, normal bleeding time, normal fibrinog
en level and low serum factor VIII activity are the typical lab findings.
. The standard treatment for hemophilia is to replace the factor VIII.
. However, mild hemophilia may be treated with desmopressin (DDAVP), which caus
es release of factor VIII from the endothelial cells.
. Leukocyte adhesion defect:
____________________________
. An immune deffeciency disease present with: recurrent bacterial infections an
d necrotic periodontal infection.
. Delayed separation of the umbilical cord (>3 weeks) is characteristic and pre
sents an important clue to the correct diagnosis.
. The leukocytes fail to express some adhesion molecules on their surface.
. The leukocyte number is increased, but the inter-leukocyte communication is d
efective; therefore, chemotaxis and cytotoxicity are impaired.
. Normal lymphocyte count and gamma globulin concentration help to differentiat
e this condition from a variety of cell and/or humoral immune defects.
. Hemolytic uremic syndrome: Extremely high-yield question for the USMLE!!!
____________________________
. It is usually preceded by an acute diarrheal illness due to the pathogens Esc
herichia coli serotype 0157 H7, Shigella, Salmonella, Yersinia, and Campylobacte
r.
. It is less commonly preceded by an upper respiratory infection.
. GI bleeding is common, Physical examination frequently reveals purpura and hy
pertension.
. The hallmark finding is microangiopathic hemolytic anemia.
. Other typical features: acute renal failure, fever, oliguria (or anuria) and
thrombocytopenia
. The peripheral smear reveal schistocytes (which represent fragmented RBCs) an
d giant platelets.
. lntravascular hemolysis results in elevated levels of (LDH) and indirect bili
rubin, as well as reticulocyte count BUN and creatinine levels are markedly elev
ated.
. Moderate leukocytosis may be present.
. The urine contains hemoglobin, hemosiderin, albumin, RBCs, WBCs, and casts.
. Suspect HUS when: a diarrheal illness and presents with acute R.F., microangi
opathic hemolytic anemia, fever, thrombocytopenia and peripheral smear of schist
ocytes.
.N.B:
- Howell-Jolly bodies: are nuclear remnants of RBCs present in sickle cell atie
nts & are generally removed by a functioning spleen.
- Their presence in peripheral smear suggests functional asplenia in sickle cel
l patients (Sickle cell patients usually have infarcted spleens by the first 18
to 36 months of life).
- Heinz bodies: are aggregates of denatured hemoglobin & are commonly seen in p
atients with hemolysis due to G6PD deficiency and thalassemia
- Helmet cells are fragmented red blood cells, their presence is suggestive of
traumatic hemolytic conditions such as DIC, HUS and TIP.
- Basophilic stippling are ribosomal precipitates which appear as blue granules
& seen with thalassemias, as well as lead or heavy metal poisoning.
=========================================================== Pulmonary ==========
=============================================================================
. Pseudomonas Aeruginosa :
________________________
. Is a common cause of severe pulmonary infection in patient with cystic fibros
is (CF).
. So the best treatment for a patient with severe exacerbation of cystic fibros
is is
combination of aminoglycosides (Tobramycine) and antipseudomonas penicillines
(piperacillin).
.N.B.: Staphylococcal aureus is a frequent cause of mild pulmonary infection in
patient with cystic fibrosis SO;
when pulmonary infection is mild (cough and mucous production only) oral
anti-staphylococcal antibiotic is preferred (Dicloxacillin).
.N.B.:
- Mothers with gestational diabetes mellitus (GDM) usually give birth to large
babies with the most common complications:
- Clavicular fracture which is usually greenstick fracture and heal rapidly wit
hout complications.
. The characteristic laboratory findings of:
____________________________________________
1) Iron deficiency anemia are: decreased serum iron, decreased percent of satur
ation (serum iron/ TIBC) & increased TIBC.
2) Sideroblastic anemia: is characterized by increased serum iron levels and no
rmal TIBC.
3) In dimorphic anemia: two distinct forms of red cells are circulating
4) Megaloblastic anemia is characterized by an elevated MCV, elevated MCH, and
normal MCHC.
5) Anemia of chronic disease is associated with decreased TIBC.
. Cystic fibrosis:
________________
. Is an autosomal recessive disorder that is more common in Caucasian people.
. The cause is a defect in the CFTR (Cystic fibrosis transmembrane conductance
regulator) protein, which leads to impaired chloride transport in tissues
. and consequent multi-system involvement, particularly:
(1) increased salt content in sweat gland secretions.
(2) thick, viscous secretions in the lungs, pancreas, reproductive tract, and l
iver.
. Young child presents with recurrent upper respiratory tract infection, persis
tent nasal discharge and bilateral nasal polyps.
. Also can be present with recurrent upper respiratory tract infections, bronch
iectasis and failure to thrive.
. The patient may have pulmonary manifestations, which begins as a persistent,
productive cough, and progresses to obstructive airway disease.
. A deficiency of pancreatic enzymes leads to fat and protein malabsorption, th
ereby causing bulky, greasy, foul-smelling stools and
subsequent deficiency of fat-soluble vitamins (A, D, E and K).
. Vitamin A deficiency presents as dry skin, and Vitamin K deficiency presents
as epistaxis.
. Vitamin K is an important cofactor of several coagulation factors factors II
, VII , IX, and X as well as proteins C and S.
. Failure to thrive is the result of chronic malabsorption from pancreatic insu
fficiency.
. Other possible presentations are meconium ileus at birth and infertility.
. Meconium ileus is virtually diagnostic for cystic fibrosis, an autosomal rece
ssive disorder.
. A mutation of a single gene localized on chromosome 7 is responsible for this
disorder.
. patient is suffering from an acute exacerbation of lung disease, and his pres
entation (shortness of breath, excessive use of accessory respiratory muscles, h
ypotension) suggestive of severe attack.
. The most common etiologic agent is Pseudomonas aeruginosa.
. The three most common organisms that cause pneumonia in patients with cystic
fibrosis are Haemophilus, Pseudomonas, and Staphylococcus.
. The treatment is rapid administration of empiric antibiotics and the usual ch
oice is a combination of two agents with coverage against Pseudomonas aeruginosa
,
(ceftazidime or a penicillin derivative such as ticarcillin + an aminoglycosid
e such as amikacin or gentamicin).
.N.B: It is essential to memorize the following for the USMLE
- Gram-positive diplococci - Streptococcus pneumoniae.
- Gram-positive cocci in clusters - Staphylococcus.
- Gram-negative cocci - Neisseria.
- Gram-positive rods - Listeria and Bacillus.
- Gram-negative rods - Pseudomonas, Haemophilus, Klebsiella, Legionella.
. Pertussis:
____________
. Caused by Bordetella pertussis infection.
. It is a highly contagious infection, but its incidence has dramatically decre
ased today because of immunization.
. It usually presents with severe bouts of coughing spells after an upper respi
ratory tract infection.
. The coughing spells can be so severe that they can cause rectal prolapse, epi
staxis and pneumothoraces.
. These spells may last from two to ten weeks
. In patients with apparent subcutaneous emphysema secondary to severe coughing
paroxysms, chest x-rays must be obtained first to rule out pneumothorax(same me
chanism).
. Presence of leukocytosis with predominant small and normal-appearing lymphocy
tes further supports the diagnosis.
. The recommended first line treatment is a macrolide antibiotic (erythromycin,
azithromycin, or clarithromycin), regardless of the age or the immunization sta
tus.
. Treatment is given whenever pertussis is suspected or confirmed, and regardle
ss of the stage of the disease.
. For pertussis prevention, all close contacts should be given erythromycin for
14 days, regardless of age, immunizations, or symptoms.
. Foreign body aspiration:
__________________________
. A sudden onset of respiratory distress may be caused by foreign body aspirati
on.
. Direct laryngoscopy & rigid bronchoscopy is the procedure of choice for both
diagnostic and therapeutic purposes.
. Flexible bronchoscopy is a useful diagnostic tool but not theraputic.
. Segmental lung resection is used in some cases where rigid bronchoscopy fails
to remove the foreign body.
Vascular rings can compress the trachea:
________________________________________
. Most often due to a double aortic arch, right-sided aorta, pulmonary sling, o
r anomalous innominate or left carotid artery, causing tracheal compression.
. Patients present with signs of chronic upper airway obstruction including str
idor, wheezing, coughing, and shortness of breath.
. Symptoms are often worse while supine and relieved with neck extension.
. Patients are commonly misdiagnosed as having reactive airway disease but will
not respond to inhaled bronchodilators and corticosteroids.
. The treatment for severe disease is surgery.
. Asthma:
_________
. Characterized by airway hyperreactivity, bronchospasm and inflammation.
. It is a common illness in childhood, and about 10% of children present to the
ED with unremitting asthma (i.e. continuous wheezing despite adequate treatment
).
. Of these patients, less than 10% require mechanical ventilation; but, hospita
lization is mandatory.
. If the child has a "silent chest" or absent air entry, and continues to desat
urate despite prednisone treatment; so, the best option is hospitalization and m
echanical ventilation.
. Theophylline is an option when wheezing is severe;but it must be given I.V.an
d levels must be monitored as the drug has a tendency to increase the heart rate
.
. For acute status asthmaticus, theophylline does not help much.
.N.B.
- Tracheostomy is a surgical procedure when the upper airways are obstructed. I
t is nearly always an elective procedure, and never done to relieve asthma.
- Racemic epinephrine may help a little in moderate asthma, but in severe cases
, its administration will just delay the initiation of mechanical ventilation.
- Racemic epinephrine has a better role in the management of croup.
- Antibiotics are not indicated if there is no evidence of infection.
. Kartagener's syndrome:
________________________
. This syndrome is an autosomal recessive disorder due to dysmotile cilia.
. Characterized by a classic triad of situs inversus, recurrent sinusitis, and
bronchiectasis.
. The typical radiographic finding is dextrocardia (the apex of the heart is in
the right chest).
. The aberrant production or attachment of dynein arms can frequently be verifi
ed on electron microscopy,
and results in impaired cilial function, poor clearance of secretions, and con
sequent chronic secondary infections.
. N.B:
. A large thymic shadow is a normal chest radiograph finding in children less t
han 2 years old.
. Because the thymus is a soft organ, it can appear as a scalloped border.
. It can also have a straight inferior border which usually appears on the righ
t side and is called a "sail" sign because it resembles the sail of a ship.
. Hyaline membrane disease (HMD): or Respiratory distress syndrome (RDS)
_________________________________
. Occurs primarily in premature infants who are less than 28 weeks gestational
age (the incidence of RDS is inversely proportional to the gestational age).
. Other risk factors: male sex, cesarean section without labor, perinatal asphy
xia, and maternal diabetes.
. Maternal diabetes increases the incidence of RDS in several ways Most importa
ntly, maternal diabetes delays the maturation of surfactant production in the lu
ngs.
. The mechanism is that fetal hyperinsulinism antagonizes the actions of cortis
ol and may delay the lung maturation process.
. The decreased production and secretion of surfactant is the 1ry cause.
. In the absence of surfactant, atelectasis ensues and results in perfused but
non-ventilated alveoli, and consequently hypoxia.
. HMD presents as: tachypnea, prominent grunting, intercostal and subcostal ret
ractions, nasal flaring, and duskiness within a few minutes after birth.
. Breath sounds may be normal or diminished with a harsh tubular quality, & on
deep inspiration, fine rales may be heard, especially over the lung bases poster
iorly.
. The characteristic chest-x ray: fine reticular granularity of the lung parenc
hyma.
. Treatment includes early mechanical ventilation and surfactant administration
.
. Transient tachypnea:
_______________________
. usually follows an uneventful normal term vaginal delivery or cesarean delive
ry.
. It is characterized by the early onset of tachypnea, sometimes with retractio
ns or expiratory grunting, and cyanosis that is relieved by minimal oxygen.
. The lungs are usually clear without rales or rhonchi & chest-x ray shows prom
inent pulmonary vascular markings, fluid lines in the fissures, overaeration,
a flat diaphragm, and occasionally, pleural fluid. Hypoxemia, hypercapnia, an
d acidosis are uncommon.
. The distinguishing feature from (HMD) is the x-ray finding
. Persistent pulmonary hypertension of the newborn (PPHN):
__________________________________________________
. Should be suspected in all term and post-term infants with cyanosis with or w
ithout fetal distress.
. Persistence of fetal circulatory pattern of right-to-left shunting through th
e PDA and foramen ovale after birth is due to very high pulmonary vascular resis
tance.
. The associated hypoxia is universal and unresponsive to 100% oxygen.
. The chest-x ray may be normal or may show parenchymal opacification in the ch
est, depending on the etiology.
. Although the clinical presentation of PPHN is indistinguishable from HMD, the
x-ray findings can differentiate.
. Meconium aspiration syndrome:
_______________________________
. Usually occurs in term or post-term infants, either in utero or more often wi
th the first breath.
. Thick & particulate meconium is aspirated into lungs, resulting in small air
way obstruction & consequent respiratory distress,that present within the 1st ho
ur of birth.
. Partial obstruction of some airways may lead to pneumothorax or pneumomediast
inum.
. Patchy infiltrates, coarse streaking of both lung fields, increased anteropos
terior diameter, and flattening of the diaphragm characterize the typical chest-
x ray
. Intracranial hemorrhage:
___________________________
. In neonates classically presents as periods of apnea, pallor or cyanosis, poo
r suckling, abnormal eye signs, high-pitched, shrill cry, muscular twitching,
convulsions, decreased muscle tone or paralysis, metabolic acidosis, shock, a
nd a decreased hematocrit.
. The fontanel may be tense and bulging.
. The condition is rarely present at birth and is diagnosed on the basis of the
history, clinical manifestations, and trans-fontanel cranial (CT).
. Bronchiolitis:
________________
. is defined as the first episode of wheezing associated with an upper respirat
ory tract infection.
. The infection is usually caused by respiratory syncytial virus.
. It affects 50% of children in the 1st 2 years of life, especially those who a
re prone to airway reactivity, & there is increased incidence of asthma later in
life.
. The WBC count is normal, and the chest x-ray may show air trapping or atelect
asis.
. The treatment is supportive care with humidified oxygen and bronchodilators.
. Ribavirin may be administered in high- risk children.
================================================================== Rheumatology
===============================================================================
. Septic Arthritis:
___________________
. Septic arthritis can occur following skin or upper respiratory tract infectio
ns.
. Arthrocentesis is both diagnostic and therapeutic, and is mandatory in all su
spected cases.
. Blood cultures and synovial fluid cultures must be obtained prior to administ
ering the antibiotics.
. Empiric antibiotic therapy ( IV nafcill in or IV cefazolin) should be started
with pending synovial fluid cultures.
. Clubfoot (talipes equinovarus):
______________________________
. Presents with equinus and varus of the calcaneum and talus, varus of the midf
oot, and adduction of the forefoot.
. This is a common foot deformity and may be congenital, teratologic, or positi
onal (in utro).
. Initial treatment involves, stretching and manipulation of the foot, followed
by serial plaster casts, malleable splints, or taping.
. Because conservative treatment corrects the majority of cases, so Surgical tr
eatment is indicated if conservative management
gives unsatisfactory results, and is preferably performed between 3 and 6 mon
ths of age.
. Remember that the treatment of clubfoot should be started immediately.
. Spondylolisthesis:
____________________
. Is a developmental disorder characterized by a forward slip of vertebrae (usu
ally L5 over S1 ) that usually manifests in preadolescent children.
. In the typical clinical scenario, back pain, neurologic dysfunction (e g , ur
inary incontinence), and
a palpable "step-off" at the lumbosacral area are present if the disease is se
vere.
. Hemophilic arthropathy:
_________________________
. patients with coagulopathies (Hemophilia) --> Recurrent hemarthroses may then
lead to a joint injury called "hemophilic arthropathy".
. Although the exact mechanism underlying the joint damage is not known, iron d
eposition and synovial thickening with fibrosis are characteristic.
. Iron deposition and cytokines released from the blood stimulate synovial prol
iferation, fibrosis and cartilage injury.
. Growing pains:
________________
. Common in children between the ages of two and twelve.
. It is usually poorly localized and common in the legs below the knees and bil
ateral.
. It awakens the child at night and responds to reassurance, massages or analge
sics.
. In all cases, it resolves in the morning.
. The diagnosis of growing pain is a diagnosis of exclusion, all the physical a
nd laboratory findings are negative.
. X- rays are not required if the physical exam is unremarkable.
. All such children are observed, and parents are assured that this condition w
ill resolve with time.
. Transient synovitis:
______________________
. Is a frequent cause of hip pain in children, typically occurring in male chil
dren ages 3-10 years old.
. The cause of transient synovitis is unknown, but the condition usually follow
s mild trauma or viral infection.
. Transient inflammation of the joint synovium leads to pain and decreased rang
e of motion.
. Patients usually have a history of a recent viral infection and present with
a limp and/or unilateral hip or knee pain A low grade fever may be present, but
patients are generally afebrile.
. On examination, the affected hip will be flexed, slightly abducted, and exter
nally rotated, There is mild limitation of motion.
. The patient may complain of pain with palpation or passive motion.
. Laboratory findings characteristic of transient synovitis include a slightly
elevated white blood cell count and erythrocyte sedimentation rate.
. Four clinical criteria have been shown useful in differentiating septic arthr
itis from transient synovitis;
white blood cell count > 12,000/mm3; temperature > 39C (102F); erythrocyte sedi
mentation rate > 40 mm/h; and refusal to bear weight.
. If at least three of these four criteria are met, further work-up is indicate
d to rule out septic arthritis.
. Radiographs of the hip should be done to exclude bony lesions and Legg-Calve-
Perthes disease.
. Widening of the joint space or an enhanced pericapsular shadow may be seen wi
th transient synovitis.
. Additional work-up is not usually necessary, unless the diagnosis is uncertai
n.
. Treatment consists of rest and non-steroidal anti-inflammatory medications (N
SAIDs).
. Most patients experience resolution of symptoms within several days, although
transient synovitis may contribute to the development of arthritis later in lif
e.
. Compartment syndrome:
_______________________
. supracondylar humerus fractures may be complicated by neurovascular injury or
compartment syndrome.
. Compartment syndrome is characterized by severe pain, pallor, poikilothermia,
paresthesias, and the late findings of pulselessness and paralysis.
. Patients with predisposing injuries should be continually monitored for the d
evelopment of compartment syndrome, particularly as swelling from the injury inc
reases.
. Initial treatment includes removal of any bandages, measurement of compartmen
t pressures, and emergent orthopedic evaluation for possible fasciotomy.
. N.B.:
1- The United States Preventive Services Task Force (USPSTF) recommends vision
screening for children aged 0-5 years,
primarily to identify those with strabismus, amblyopia, and refractive error
s.
Early diagnosis and treatment are being emphasized, because poor visual acui
ty resulting from the above conditions may impair
a child's future academic performance and selfimage,and may even lead to bli
ndness.
2- Lead toxicity causes microcytic anemia and permanent neurologic damage, so i
dentification of affected patients is desirable at an early stage.
Risk factors for environmental lead exposure include minority race or ethnic
ity, low socioeconomic status, pre-1950 housing,
occupational exposure from parents, and recent immigration.
- The USPSTF recommends no screening for asymptomatic children aged 1-5 years
at average (no) risk of lead toxicity.
3- The Centers for Disease Control (CDC) recommend beginning the meningococcal
vaccination series between 11-12 years.
Children who are at high risk of the disease (i.e , asplenic) may be vaccina
ted as early as 2 years of age.

4- The CDC recommends administering the rotavirus vaccine between 2 and 8 month
s.
first dose should be administered between 6 and 14 weeks of age Rotavirus.
vaccination should not be initiated for infants aged 15 weeks and older.
The final dose should not be given beyond 8 months of age.
. Hand-foot syndrome or dactylitis:
____________________________________
. Is the earliest manifestation of vaso-occlusion in sickle cell anemia, so nee
ds a complete workup for previously asymptomatic sickle cell patients.
. Patients usually present at the age of 6 months to 2 years with an acute onse
t of pain and symmetric swelling of the hands and feet.
. Although only soft tissue swelling is initially seen, fever is sometimes pres
ent.
. The pathophysiology of dactylitis involves vascular necrosis of the metacarpa
ls and metatarsals, which may be seen on plain radiographs as osteolytic lesions
.
. Ewing's sarcoma:
__________________
. A highly malignant tumor that is found in the lower extremity more than the u
pper extremity.
. The most common sites are the metaphysis and diaphysis of the femur, followed
by the tibia and humerus.
. It is very aggressive and metastasizes early to the lungs and lymph nodes.
. Patients are typically white males in their first or second decade of life.
. Presents with pain and swelling for weeks or months, Erythema and warmth of t
he local area are sometimes seen.
. Patients may initially be diagnosed with osteomyelitis, due to the misleading
presentation of intermittent fevers, leukocytosis, anemia, and increased ESR.
. But, Ewing's sarcoma is characterized radiologically with its lamellated appe
arance or "onion skin" periosteal reaction.
. This lesion is usually lytic, central, and accompanied by endosteal scallopin
g
. The "onion-skin" appearance is often followed with a "moth-eaten" or mottled
appearance and extension into soft tissue.
. The treatment includes surgery, radiation, and multi-drug chemotherapy.
. Osteogenesis imperfecta: Extremely high yield question for USMLE step-1 and st
ep-2.
__________________________
. An autosomal dominant disease characterized by mutations in the gene coding f
or type I collagen.
. There are four types of (OI). All types can have joint hyperlaxity, hypotonia
, wormian bones, and early hearing loss.
. Type II is the most severe form and is usually lethal within the first year o
f life.
. Types I, III , and IV can all be further categorized by the presence or absen
ce of dentinogenesis imperfecta.
. Dentinogenesis imperfecta is a disorder of tooth development The teeth are us
ually discolored (bluish gray or yellow-brown), translucent, and weak.
. Both primary and permanent teeth are affected.
. Patients with the severe type II form of this disease typically expire in ute
ro due to multiple intrauterine and/or perinatal fractures.
. Since type I collagen is an important structural protein that is present in t
he skin, sclera, bone, tendon and ligament,
. patients with this disorder present with multiple recurrent fractures, blue s
clera, hearing loss, joint laxity, short stature, and scoliosis.
. Clinical findings include limb deformities, growth retardation, multiple frac
tures and blue sclerae.
. Cardiac anomalies such as aortic root dilatation are not usually seen in (OI)
. Aortic root dilatation can be seen in disorders such as Marfan syndrome.
. Horseshoe kidneys are not a feature of (OI). Patients with Turner syndrome ca
n have horseshoe kidneys
. Patients with (OI) have normal intelligence not mental retardation.
. Ash leaf macules are hypopigmented macules seen in patients with tuberous scl
erosis.
. A lytic bone lesion in a child:
_________________________________
. Differential diagnosis for a lytic bone lesion in a child:
- infectious (Brodie abscess from osteomyelitis), - endocrine (hyperparathyroid
osteitis fibrosa cystica),
- neoplastic (Ewing sarcoma, Langerhans cell histiocytosis, metastases) and - i
diopathic (benign bone cyst, aneurysmal bone cyst).
. If there is concomitant hypercalcemia, it narrows the differential diagnosis
to hyperparathyroid state versus lytic bone neoplasm.
. Parathyroid adenoma is the most common cause of primary hyperparathyroidism,
and typically occurs in patients over 50 years of age.
. A lytic bone lesion is most likely occurs in children.
. Langerhans cell histiocytosis (LCH, Langerhans cell granulomatosis, histiocyt
osis X) is known to causes solitary, lytic, long bone lesions.
. Eosinophilic granuloma, the least severe form of histiocytosis X, generally p
resents in children and young adults as a solitary bone lesion.
. This lesion may be painful, have overlying tender swelling, and cause patholo
gical fractures.
. Though these tumors can be locally destructive, they typically resolve sponta
neously and are therefore regarded as benign and treated conservatively.
. Aseptic necrosis of the femoral head: Extremely high yield question for USMLE!!
!
_______________________________________
. Osteonecrosis = A vascular necrosis.
. is a common complication of sickle cell disease.
. It involves occlusion of end arteries supplying the femoral head, bone necros
is, and eventual collapse of the periarticular bone and cartilage.
. The femoral head has two main sources of blood supply - ascending arteries an
d the foveal artery, which lie within the ligamentum teres.
. The foveal artery is patent early in life, but may become obliterated in olde
r patients.
. This explains why aseptic necrosis of the femoral head is uncommon in childre
n.
. Traction apophysitis (Osgood-Schlatter disease):
__________________________________________________
. is a common cause of knee pain, particularly in adolescent male athletes.
. During early adolescence (ages 13-14 for males, and ages 10-11 for females),
there are periods of rapid growth in which
the quadriceps tendon puts traction on the apophysis of the tibial tubercle w
here the patellar tendon inserts.
. This traction apophysitis is worsened by sports that involve repetitive runni
ng, jumping, or kneeling, and it improves with rest.
. Approximately 1/4 of affected individuals have bilateral disease.
. Physical examination, there is edema and tenderness over the tibial tubercle,
a firm mass can sometimes be felt due to heterotopic bone formation.
. Pain can be reproduced by extending the knee against resistance.
. Radiographic findings are nonspecific: anterior soft tissue swelling, lifting
of tubercle from the shaft, and irregularity or fragmentation of the tubercle.
. Treatment consists of activity restriction, stretching exercises, and non-ste
roidal anti-inflammatory medications.
. Clavicular fracture in neonat:
_________________________________
. Clavicular fracture presents with irregularity, crepitus, and fullness over t
he fracture site, and decreased movements of the arm.
. Predisposing factors are shoulder dystocia, traumatic delivery, and large siz
e of the infant.
. Generally, no specific treatment is required (reassurance).
. Acquired torticollis (wryneck):
_________________________________
. Refers to neck twisting usually due to asymmetric muscle activity.
. The most common causes of acquired torticollis are upper respiratory infectio
ns, minor trauma, and cervical lymphadenitis.
. More serious causes: retropharyngeal abscess and atlantoaxial subluxation.
. Cervical spine radiographs is needed in children with torticollis to ensure t
here is no cervical spine fracture or dislocation, which requires extreme cautio
n.
. Metatarsus adductus:
______________________
. A congenital foot deformity, which is most frequent in first-born infants & i
s attributed to the molding effect of the primigravid uterus.
. Approximately 10% of patients also have an associated acetabular dysplasia; h
ence, careful hip examination is required.
. Metatarsus adductus is subdivided into three types:
1- Type I metatarsus adductus:
. characterized by deformity of the feet, specifically adduction of the anter
ior aspect of the foot with a convex lateral border and concave medial border.
. The ankle movements are normal, and passive and active movement of the foot
overcorrects the deformity into abduction.
. AP radiographs reveal mild adduction of the metatarsals at the tarsometatar
sal articulation, and an increased angle between the 1st and 2nd metatarsals.
. These cases tend to spontaneously correct by themselves; therefore, treatme
nt is not necessary (reassurance).
2- Type II metatarsus adductus:
. characterized by feet that correct to the neutral position with passive and
active movements;
. this is managed with orthosis or corrective shoes, and sometimes plaster ca
sts if initial treatment gives no results.
3- Type III metatarsus adductus is characterized by rigid feet and do not corre
ct; these are managed with serial casts.
. Surgical treatment may be required if there is significant residual metatar
sus adductus in children 4 years of age.
. Osteomyelitis:
________________
. Staphylococcus aureus is the most common cause of osteomyel itis in both infa
nts and children.
. 2nd common: Group B streptococcus and Escherichia coli in infants, and Strept
ococcus pyogenes in children.
. Salmonella and Staph aureus are the most common cause of osteomyelitis in pat
ients with sickle cell disease.
. Staphylococcus epidermidis is a frequent cause of osteomyelitis associated wi
th prosthetic devices.
. Septic arthritis:
___________________
. Like osteomyelitis in a child, a septic joint is usually hematogenous in orig
in and frequently follows an upper respiratory tract infection.
. The most common organisms causing septic arthritis in children are Staphyloco
ccus aureus and streptococcus.
. It is characterized by severe pain, leukocytosis and an elevated ESR.
. The typical patient generally refuses to walk, and keeps the affected limb ex
ternally rotated (the external rotation position allows for maximal pus accumula
tion).
. Ultrasound guided aspiration of the synovial fluid should be performed immedi
ately.
. The synovial fluid white cell count of more than 100,000/ul indicates a defin
ite septic arthritis.
. An x-ray is often normal.
. Empiric antibiotics: in infants a combination of antistaphylococcal agent (na
fcillin or vancomycin) and third generation cephalosporin and
for children over age 5 years antistaphylococcal agent (nafcillin or vancomyc
in) alone is a reasonable empiric antibiotic therapy.
. Septic joint in a child is a true surgical emergency and needs immediate drai
nage.
. A delay of even 4-6 hours can lead to avascular necrosis of the femoral head.
. Lyme arthritis:
_________________
. occurs as a result of untreated Lyme infection. It is caused by Borrelia burg
dorferi, a spirochete carried by the deer ticks.
. It spreads via blood to various areas of the body, including the joints.
. The early symptoms are mild and are easily overlooked, arthritis is the hallm
ark of late disease.
. It tends to involve the knee in most patients Warmth, swelling from effusion
and restriction of movements differentiate it from arthralgias, which occur earl
y in the disease.
. The first episode occurs within six months of having erythema migrans, the ep
isodes gradually disappear in about ten years, if left untreated.
. In United States, Lyme disease is prevalent in: Connecticut, Rhode Island, Ne
w York, Pennsylvania, New Jersey, Delaware, Maryland and Wisconsin.
. Slipped capital femoral epiphysis (SCFE):
___________________________________________
. is a common hip disorder seen in adolescents.
. SCFE occurs when the capital femoral epiphysis displaces from the femoral nec
k.
. Boys > girls, and the usual age is 10 to 16 years old.
. Obesity is a significant risk factor, additional risk factors: hypothyroidism
, panhypopituitarism, and growth hormone deficiency or supplementation.
. Children with endocrine issues are more likely to have bilateral disease and
to present at an earlier age.
. Commonly present with an insidious onset of knee or hip pain and a limp, usua
lly without a history of trauma.
. Sometimes, minor trauma can increase the pain and bring the patient to medica
l attention.
. Patients tend to hold the hip in passive external rotation and exhibit decrea
sed internal rotation, abduction, and flexion.
. Diagnosis is made with plain radiographs of the hip (AP and frog leg lateral
views), which show the posteriorly and inferiorly displaced femoral head.
. Treatment: emergent orthopedic consultation and surgical fixation at the curr
ent degree of slippage to avoid the risk of avascular necrosis.
. Supracondylar fractures:
__________________________
. are the most common fractures in the pediatric population.
. The most common complication is entrapment of the brachial artery, resulting
in loss of the radial artery pulse.
. therefore, all patients with a supracondylar fracture must have their radial
pulse checked.
. After reduction of the fracture, the radial pulse must be reassessed.
. Duchenne muscular dystrophy:
______________________________
. should be suspected in a child under the age of 5 who presents with proximal
muscle weakness (difficulty climbing stairs),
Gower's sign (use his hands to "walk up" his legs in order to assume an uprig
ht position), diminished reflexes, and pseudohypertrophy of the calf muscles.
. Mental retardation.
. Cardiomyopathy.
. Serum CK (and aldolase)levels are used for screening the muscular dystrophies
.
. Muscle biopsy can confirm the diagnosis in most cases.
. The gold standard is genetic studies, which is required in atypical cases.
. Prognosis: most of patients are wheelchair bound by age of 12 years.
. Becker muscular dystrophy:
____________________________
. Similar to Duchenne muscular dystrophy but:
. After age of 5 years (usually around 12 y).
. Milder than Duchenne muscular dystrophy.
. Caulf pain with exercise.
. Normal or near normal mentality.
. Prognosis: patients are able to walk untile early childhood.
. Nursemaid's elbow:
____________________
. occurs when infants or children are lifted or pulled by the hand or arm.
. This pulling injury occurs when the radial head slips through parts of the an
nular ligamen.
. The child typically keeps the hand in a pronated position, and refuses (cries
out in pain) attempted fo rearm supination
. Rotating the hand and forearm to a supinated position with pressure over the
radial head usually reduces the annular ligament with an audible click, and
restores full, normal use of the extremity.
. The response to reduction of the displaced ligament is diagnostic.
============================================================ GIT ===============
===================================================================
. Congenital abdominal wall defects:
____________________________________
. Diagnosis Congenital abdominal wall defects can be made antenatally with mate
rnal serum-AFP measurements and ultrasonography.
. The two types of abdominal wall defects are described in the table below:
* Gastroschisis:
----------------
. Bowel protrudes through a defect on the right side of the umbilical cord.
. Bowel is not covered by a protective membrane.
. Bowel looks "angry" and matted.
. Not typically associated with any other abnormalities outside the GI tract.
. If the diagnosis was made antenatally, management would begin with planned sp
ontaneous vaginal delive ry at a tertiary neonatal surgical unit,
. Caesarean section is performed only in the presence of the usual obstetric in
dications.
. After delivery, the next step in management is to immediately wrap the expose
d bowel with sterile saline dressings and
. Cover with plastic wrap in order to prevent insensible heat and large fluid l
osses.
. The neonate is then maintained in a thermo-neutral environment.
. Further steps in the management of gastroschisis include inserting an orogast
ric tube (to decompress the stomach), establishing peripheral intravenous access
(to
provide fluids), and administration of broad-spectrum antibiotics.
. Definitive treatment is surgical; however, surgery should be preceded by the
above measures.
. Primary closure is successful in 70% of neonates, but if it is unsuccessful,
staged closure with Silastic silo can be used.
* Omphalocele:
--------------
. Intra-abdominal contents protrude through the umbilical ring The abdominal he
rniat ion usually includes small bowel and may include large bowel and liver.
. Bowel is covered by an amnioperitoneal membrane.
. Can be associated with other congenital abnormalities ( e g , heart, kidney).
. The management of omphalocele is similar to that of gastroschisis:
. Delivery is also planned at a tertiary care center, and caesarean section is
reserved for the usual obstetric indications,
(This is based on the lack of evidence that caesarean delivery improves the o
utcome of patients with uncomplicated omphalocele ).
. Immediate care of the newborn with omphalocele also involves, sterile wrappin
g of the bowel,insertion of an orogastric tube,
stabilizing the airway (to ensure adequate ventilation), and establishing per
ipheral intravenous access.
. Small defects (< 2 cm) can be repaired with primary closure, but most defects
will require a staged procedure with Silastic silo.
. Umbilical hernia:
___________________
. Is due to an imperfect closure or weakness of the umbilical ring, it is espec
ially common in low birth weight, female, and black infants.
. It appears as a soft swelling covered by skin that protrudes during crying, c
oughing or straining, and can be reduced easily through the fibrous ring at the
umbilicus.
. The hernia consists of omentum or portions of the small intestine.
. Most umbilical hernias disappear spontaneously by 1 year of age.
. Surgery is advised if the hernia persists to the age of 3-4 years, exceeds 2
cm in diameter, causes symptoms, becomes strangulated,
or progressively enlarges after the age of 1 to 2 years.
. Necrotizing enterocolitis:
____________________________
. Suspect necrotizing enterocolitis in any preterm or low birth weight infant w
ith fever, vomiting, abdominal distension, bloody diarrhea, leukocytosis & pneum
atosis intestinalis.
. These symptoms usually occur after the introduction of formula feeding.
. The radiologic finding of pneumatosis intestinalis (i.e. intramural air) in i
nfants is diagnostic.
. Increased gastric residual volume in a preterm neonate is highly suspicious f
or necrotizing enterocolitis.
. The condition usually presents at 3-10 days after birth, and is due to bowel
wall injury resulting from perinatal asphyxia.
. Preterm neonates are at high risk for other complications such as hyaline mem
brane disease,
which presents with respiratory distress and ground glass appearance of the l
ungs on chest x- rays.
N.B:
____
. Trachea-esophageal fistula: presents with excessive drooling, choking, coughi
ng, and cyanosis due to aspiration of feedings.
. Duodenal atresia: Bilious vomiting without abdominal distention is the cardin
al sign for duodenal atresia.
. Meconium aspiration syndrome: Clinical features of meconium aspiration syndro
me include thick, greenish amniotic fl uid
in the mouth and throat at birth, accompanied by cyanosis and respiratory dis
tress.
. Pyloric stenosis is characterized by projectile nonbilious vomiting and palpa
tion of an olive-shaped mass immediately after the infant has vomited.
. Celiac disease:
_________________
. The presence of dermatitis herpetiformis and chronic non-bloody diarrhea in a
child of 12-15 months is suggestive of celiac disease.
. The child has Kwashiorkor-like clinical features associated with dermatitis h
erpetiformis (erythematous vesicles symmetrically,
distributed over the extensor surfaces of elbows and knees).
. This scenario is suggestive of celiac disease, which is also called gluten-se
nsitive enteropathy.
. It is due to abnormal hypersensitivity to gluten and presents characteristica
lly at 12-15 months of age, when gluten-containing foods
such as wheat, rye or barley are introduced into the child's diet.
. Pyloric stenos:
_________________
. Is a common congenital anomally typical presentation is non-bilious projectil
e vomiting which gradually becomes more frequent and
forceful in a 4-8 week old infant Pertinent physical findings are a palpable
abdominal mass and visible peristaltic waves in the upper abdomen.
. Hypokalemic alkalosis occurs due to the frequent episodes of vomiting.
. Abdominal ultrasound is the most useful tool for confirming the diagnosis, an
d shows a thick hypoechogenic ring in the pyloric region.
. Additionally, the loss of large volumes of fluid via vomiting leads to contra
ction alkalosis due to the action of aldosterone.
. In order to compensate for the metabolic alkalosis, the respiratory system re
sponds via hypoventilation to create a secondary respiratory acidosis.
. i.e. have a primary metabolic alkalosis with respiratory compensation.
. This is characterized by a plasma pH greater than 7.45, PaC02 greater than 40
mm Hg and HC03- greater than 24 mEq/L.
. Pyloric stenosis is treated su rgically; however, surgery should be undertake
n only after the infant's hydration status and electrolyte levels have been stab
ilized.
. Meckel's diverticulum:
________________________
. Typically presents with painless melena in 2 to 3-year-old children.
. It is present in 2-3% of the population, and is the most common anomaly of th
e GIT.
. It results from the failure of the vitelline duct to obliterate during the fe
tal development.
. Heterotropic gastric tissue may be present in the diverticulum, which results
in ulcerations and bleeding.
. The diagnosis of a Meckel's diverticulum is best made with technetium-99m per
technetate scanning (uptake by heterotopic gastric mucosa).
.N.B.:
1- Peptic ulcer disease may present in preschool children with epigastric pain
related to meals with a positive family history.
2- Anal fissure is a painful condition associated with constipation it may occu
r in infancy, and presents with blood streaked stools.
3- lntussusception may present in an infant or a young child with irritability,
vomiting, red currant-jelly stools and abdominal mass.
4- Inflammatory bowel disease may present in preschool children with diarrhea,
abdominal pain, low-grade fever and malaise.
. A choledochal cyst:
_____________________
. a congenital abnormality of the biliary ducts characterized by the dilatation
of intra or extra-hepatic biliary ducts or both.
. It has a multifactorial origin, but most of the cases are related to an anoma
lous pancreaticobiliary junction, which
. leads to weakness and dilatation of the biliary wall due to the reflux of alk
aline pancreatic secretions into the biliary tree.
. Various types of choledochal cysts are:
- Type 1: Most common type, features the dilatation of the entire common hepati
c and common bile ducts or segments of each.
- Type 2: Relative isolated protrusions or diverticulae from the common bile du
ct wall.
- Type 3: Cyst found in the intraduodenal part of common bile duct
- Type 4: Multiple dilatations in the intra and extra hepatic biliary tree.
- Type 5: Isolated dilatation of intrahepatic bile ducts.
.N.B.:
- Caroli's syndrome is a congenital disorder characterized by intrahepatic dila
tation of bile ducts.
. Pseudo-pancreatic cyst:
________________________
. is a complication of acute or chronic pancreatitis characterized by retroperi
toneal/epigastric mass and high amylase.
. However, it will rarely cause a right upper quadrant mass and very mild jaund
ice by compressing the common bile duct.
. It is easily diagnosed by ultrasonogram.
. Intestinal atresia:
_____________________
. It can occur anywhere from the duodenum to the colon.
. Jejunal atresia is thought to occur due to an intrauterine vascular accident
that causes necrosis and resorption of a segment of bowel.
. The severity of the obstruction can vary from a membranous web to full atresi
a and loss of bowel length.
. Prenatal ultrasounds can diagnose intestinal atresia.
. If not discovered prenatally, the infant will develop vomiting and abdominal
distention along with feeding intolerance shortly after birth.
. Duodenal atresia appears as a "double bubble" on radiography.
. Jejunal atresia presents as a "triple bubble" on radiographs, indicating dila
tion of a larger amount of small bowel than that seen in duodenal atresia.
. Treatment should initially be focused on resuscitation and stabilization of t
he patient, followed by surgical correction.
. Duodenal atresia usually presents with bilious vomiting a few hours after the
first feeding.
. It is usually associated with other congenital anomalies, and can be a featur
e of Down's syndrome.
. Midgut volvulus:
___________________
. usually presents in a child less than one month old with bilious vomiting, ab
dominal distension and passage of bloodstained stools.
. Volvulus is associated with malrotation of the gut, and can be complicated by
perforation and peritonitis.
. lntussusception:
__________________
. is the most common cause of intestinal obstruction in the first two years of
life.
. The classic presentation: is an infant with colicky abdominal pain, vomiting,
and red currant jelly stools.
. The currant jelly stools are caused by bowel ischemia, which leads to bleedin
g and mucus production.
. Between episodes of abdominal pain, the child appears well.
. On physical examination, the abdomen is usually soft, nontender, and nondiste
nded, A sausage-shaped mass is often palpated.
. An abdominal radiograph may show air fluid levels due to obstruction.
. An ultrasound commonly shows a targetoid lesion in which one bowel segment is
nested inside another bowel segment.
. An air contrast enema is both diagnostic and therapeutic in the majority of c
ases.
. Emergent laparotomy is indicated for the treatment of intussusception when ai
r contrast enema is unsuccessful.
. However, laparotomy becomes the treatment of choice if the child presents wit
h peritoneal signs.
. The most common type of intussusception is ileocolic.
. Hirschsprung's disease:
________________________
. usually presents with failure to pass meconium within the first 24 hours.
. In this disease, an aganglionic segment of the colon causes the intestinal ob
struction.
. Cyclical vomiting:
__________________
. Recurrent self-limiting episodes of vomiting and nausea in children in the ab
sence of any apparent cause.
. The etiology of this condition is unclear; however, its incidence is high in
children whose parents have a history of migraine headaches.
. Complications that may arise from the condition are anemia and dehydration.
. Treatment consists of anti-emetics and reassurance of the parents.
. Infantile gastroesophageal reflux disease (GERD):
___________________________________________________
. The child typically has frequent vomiting, but maintains adequate weight gain
.
. Symptoms usually begin in the first few months of life, peak around 4 months,
and generally resolve by 1 year
. Conservative therapy is first-line management in these infants, and make sure
that the feedings are the appropriate volume and are given at regular intervals
.
. Breast milk or formula can be thickened with rice cereal, which can decrease
the frequency of vomiting.
. The infant should also be positioned to help decrease intraabdominal pressure
by keeping the child's head elevated or laying the child prone when awake.
. Parents should be reassured that most children will have resolution of their
symptoms by 12 months.
. If infants develop respiratory symptoms due to GERO such as stridor, apnea, o
r failure to thrive, a more detailed evaluation is necessary including
. an upper gastrointestinal series, pH probe monitioring, or endoscopy.
. These children may require pharmacotherapy if conservativetreatments do not i
mprove their symptoms.
. N.B:
- Batteries lodged in the esophagus on x-ray should be removed immediately unde
r endoscopic guidance to prevent mucosal damage and esophageal ulceration.
- Batteries located distal to the esophagus pass uneventfully in most cases and
need only to be observed with stool examination and/or follow up x-rays to conf
irm excretion.
. Hemolytic-uremic syndrome (HUS):
__________________________________
. Caused by a toxin released from Escherichia coli.
. The toxin enters the systemic circulation and injures the endothelial cells i
n the kidney.
. When there is progressive elevation of BUN and creatinine, the chances for im
provement of the kidneys' function is poor.
. When the kidneys are damaged, the mortality is 5-10%.
. Turcot's syndrome:
____________________
. It is autosomal recessive and mainly occurs in teens.
. An association between brain tumors (primarily medulloblastomas and gliomas)
& FAP (Familial Adenomatous polyposis) or HNPCC (Hereditary nonpolyposis colorec
tal cancer).
. Gardner's syndrome:
_____________________
. is autosomal dominant where colonic polyps are seen with prominent extraintes
tinal lesions.
. Includes: desmoid tumors, sebaceous or epidermoid cysts, lipomas, osteomas (e
specially mandible), supernumerary teeth & juvenile nasopharyngeal angiofibroma.
. Peutz-Jeghers syndrome:
_________________________
. An autosomal dominant inherited disorder characterized by intestinal hamartom
atous polyps in association with mucocutaneous melanocytic macules.
. Esophageal atresia:
_____________________
. The most common esophageal anomaly is esophageal atresia with a tracheoesopha
geal fistula.
. This is characterized by an atretic esophageal pouch that communicates distal
ly with the trachea just above the carina.
. This anatomic arrangement allows air to enter the stomach, and this leads to
gastric distention.
. The discontinuous esophagus prevents the infant from completely swallowing, t
hereby resulting in drooling or regurgitation during feeding.
. In addition, gastric fluid ascends into the distal esophagus through the fist
ula, into the trachea and lungs, thereby
producing aspiration pneumonia Pneumonitis and atelectasis occur frequently,
and rattles are heard during breathing.
. The inability to pass a feeding tube into the stomach is suggestive of esopha
geal atresia with or without tracheoesophageal fistula.
. Infantile colic:
___________________
. is defined as excessive crying in an otherwise healthy infant for more than 3
hours a day, more than 3 days a week, and more than 3 weeks in a month.
. Colic usually presents within the 1st 3 weeks of life and resolves spontaneou
sly by four months of age.
. Most parents report that the crying occurs at the same time of day, typically
in the early evening.
. The crying begins suddenly, and the child generally cannot be comforted.
. The cause of colic is not known, it maybe due to a digestive tract origin (eg
, trapped gas) leading to abdominal pain.
. Because the etiology is not known, there is no accepted treatment (resolves s
pontaneously by four months of age).
. Proposed treatments: soothing measures, simethicone (which decreases the surf
ace tension of gas bubbles), or probiotics.
. Congenital diaphragmatic hernia:
__________________________________
. The first step is immediate placement of an orogastric tube & connecting it t
o a continuous suction, to prevent bowel distension and further lung compression
.
. Endotracheal intubation and mechanical ventilation are also priorities for al
l infants with severe CDH who present in the first hours of life.
=============================================================== Neonatology ====
=================================================================
. The Apgar score is measured in newborns at 0 and 5 minutes of life. It has fiv
e components, and is scored as follows:
A) Color of the newborn
-----------------------
0 body and extremities are blue/pale
1 body is pink and extremities are blue
2 body and extremities are pink.
B) Heart rate
-------------
0 heart shows no activity
1 HR <100 beats/min
2 HR > 100 beats/min
C) Reaction to nasal stimulation:
---------------------------------
0 no response to stimulation
1 grimace
2 active cough.
D) Tone/ Activity:
------------------
O limp
1 some flexion of extremities
2 active flexion of extremities.
E) Respirations:
----------------
0 completely absent
1 slow and irregular
2 good respiratory effort.
. Breast milk:
______________
. The protein in human milk is 70% whey and 30% casein, and the protein content
is highest at birth and decreases over the first month of life.
. Whey is more easily digested than casein and helps to (improve gastric emptyi
ng).
. Human milk also contains lactoferrin, lysozyme, and secretory immunoglobulin
A proteins that confer improved immunity to the infant.
. The main carbohydrate in both human milk and standard infant formulas is lact
ose.
. Although calcium and phosphorus content is significantly lower in human milk
when compared to formula, these minerals are better absorbed from human milk.
. Breast milk has an inadequate supply of vitamin D and exclusively breast-fed
infants must receive supplemented vitamin D.
. Breast feeding:
_________________
A) Advantages of breast feeding:
---------------------------------
. It confers protection against infections such as meningitis, bacteremia, necr
otizing enterocolitis, diarrheal illnesses, otitis media, and respiratory infect
ions.
. Mothers who breastfeed also benefit by having decreased postpartum bleeding,
more rapid uterine involution, decreased menstrual blood loss, increased child s
pacing,
earlier return to pre-pregnancy weight, and decreased risk of breast and ovar
ian cancer.
B) contraindications to breastfeeding:
---------------------------------------
. Infants with certain inborn errors of metabolism such as galactosemia, phenyl
ketonuria, and urea cycle defects.
. Other contraindications: maternal use of certain medications such as radioact
ive isotopes, antimetabolites, and chemotherapeutic agents.
. Mothers using drugs of abuse should be counseled to quit using these drugs an
d should not breastfeed if they are continuing to abuse drugs.
. Breastfeeding is also contraindicated with some maternal infections including
herpes simplex (if there are lesions on the breast), active tuberculosis, and H
IV.
. Tobacco smoking, hepatitis C infection, mastitis nor maternal alcohol use.
. Neonatal sepsis:
__________________
. Group B streptococcus is the most common cause of neonatal sepsis, it is part
of the normal vaginal flora of women and
is transmitted to infants during passage th rough the birth canal.
. In neonates, infection presents either as early-onset sepsis or late-onset se
psis.
. Early sepsis presents within the first week of life and usually involves seve
ral organs Symptoms include:
. Respiratory failure, meningitis, DIC, acute tubular necrosis and peripheral g
angrene.
. It is usually refractory to therapy and quickly evolves to shock, coma and de
ath.
. Late-onset GBS infection is usually a focal infection, most frequently mening
itis (75%),
although arthritis, osteomyelitis, cellulitis and urinary tract infection may
also occur.
. Meningitis presents with fever, lethargy, poor feeding, hypotonia, seizures a
nd a bulging fontanel.
. The diagnosis is confirmed by positive blood or cerebrospinal fluid cultures,
although all newborns with fever and sepsis should have full workup for sepsi
s, including urine cultures.
. If the mother has already received antibiotics, culture results may be negati
ve and a latex agglutination test may be more helpful.
N.B.
1- Escherichia coli meningitis is less frequent than GBS meningitis It is the s
econd most common cause of neonatal meningitis.
2- Listeria is the third most common cause of neonatal meningitis It also tends
to result in multiple abscesses and pneumonia, in addition to meningitis.
3- Congenital toxoplasmosis classically presents with microcephaly, microphthal
mia, hepatosplenomegaly and chorioretinitis.
4- Herpes simplex virus encephalitis usually presents with focal neurologic sig
ns. Herpes involves temporal lobes, so patients may present with seizures.
. Neonatal sepsis:
__________________
. Sepsis in the neonate often presents with fever or hypothermia, jaundice, let
hargy, and poor feeding.
. Infants with a serious bacterial infection such as meningitis rarely present
with classic findings such as neck stiffness or Kernig's or Brudzinski's signs.
. As a result, all infants with a suspected diagnosis of sepsis should be evalu
ated with blood cultures and a lumbar puncture
. Jaundice in the newborn has a broad list of differential diagnoses including
sepsis, breast milk jaundice, and breastfeeding jaundice.
.N.B: Breast milk jaundice:
. Temporary cessation of breastfeeding is the most appropriate next step in an
infant with suspected breast milk jaundice.
. Breast milk jaundice, which is a caused by a factor in human breast milk, res
ults from increased intestinal absorption of bilirubin and generally peaks
around two weeks of age.
. Liver function tests (Albumin, AST, ALT, alklaline phopshatase) should be obt
ained in infants with a direct or conjugated hyperbilirubinemia,
to assess for conditions such as biliary atresia.
. Milk protein intolerance:
___________________________
. Suspected in infant with vomiting, bloody diarrhea, RBCs and eosinophils in s
tool, and there may be a family history of an atopic disorder.
. It is a hypersensitivity reaction to cow's milk proteins, and therefore usual
ly occurs in babies who are fed with cow's milk;
however, it may occur in breastfed babies, as the mother's milk may contain p
roteins from ingested cow's milk.
.N.B.:
- viral gastroenteritis: the associated diarrhea is usually non-bloody.
- Meckel's diverticulum typically presents as painless melena in a child who i
s approximately 2 years of age.
- Hirschsprung's disease may present with failure to pass meconium within the
first 24 hours of life and/or failure to thrive.
.N.B.: HIV testing in pregnant females:
---------------------------------------
- It should be done to all pregnant women in the first trimester to prevent pos
sible transmission to the infant.
- Persistent oral thrush, lymphadenopathy and hepatosplenomegaly & maybe intrac
table diarrhea, refractory infections and fa ilure to thrive the presenting symp
toms.
- In neonates, serologic testing is not useful for HIV diagnosis because of the
passage of maternal antibodies to the fetal circulation through the placenta.
- PCR, viral culture and p24 antigen testing are more appropriate; HIV infectio
n is confi rmed if at least two of these tests are positive.
. Contraindications to breastfeeding:
_____________________________________
1. Certain active maternal infections (HIV, tuberculosis, herpes simplex lesion
s on or near the nipple, malaria, sepsis, typhoid fever),
2. Eclampsia, nephritis, substance abuse, and breast cancer.
3. Transmission of HIV by breastfeeding is well documented; therefore, the pres
ence of maternal HIV infection is a contraindication to breastfeeding.
N.B.: Situations that are not a contraindication to breastfeeding:
1- Mastitis --> we encourage breastfeeding since this prevents engorgement, alo
ng with other subsequent symptoms such as fissures and cracking of the nipple.
2- Maternal rubella infection --> there is currently insufficient evidence rega
rding the associated risks.
3- Breast milk jaundice --> Mothers of such infants are instructed to switch th
eir babies to formula-feeding for 1-2 days.
This allows the increased indirect bilirubin levels of the infant to return
to normal values. After 2 days, the mother resumes breastfeeding,
and further hyperbilirubinemia usually does not recur.
4- Hemolytic disease of the newborn (erythroblastosis fetalis) --> breastfeedin
g because antibodies in the mother's milk are inactivated
in the intestinal tract and do not contribute to further hemolysis of the in
fant's RBCs.
. Physiological jaundice:
_________________________
. usually presents after 24- 36 hours of birth.
. The pathophysiology involves a combination of increased bilirubin production,
decreased bilirubin clearance, and increased enterohepatic circulation.
. Breastfeeding jaundice:
_________________________
. Breastfeeding jaundice is an exaggeration of physiologic jaundice caused by t
he relative dehydration that can occur in breastfed infants in the first week of
life.
. Breastfed infants usually breastfeed for about 15-20 minutes on each breast,
8 times/day, make about 4-6 wet diapers/day mixed with 8-12 stools/day,
& lose 10% of their birth weight in the first week.
. Ineffective breastfeeding in the first few days of life causes inadequate ent
eral intake, prolongs the intestinal transit time, and leads to increased absorp
tion of
unconjugated bilirubin through enterohepatic circulation.
. The infant can also become relatively dehydrated from the limited fluid intak
e and lose more than the expected 10% of the birth weight in the first week of l
ife (further increases the bilirubin level).
. In otherwise healthy infants, the best treatment for breastfeeding jaundice i
s to increase the frequency and duration of feedings to stimulate more milk prod
uction.
. As the milk production increases, the infant will become more hydrated, and
the bilirubin level will decrease.
. Sphingolipidosis:
___________________
1- a sphingolipidosis due to a deficiency in sphingomyelinase (Niemann-Pick's d
isease); characterized by cherry red macula, protruding abdomen,
- hepatosplenomegaly, lymphadenopathy, and regression of developmental milesto
nes.
- Sphingomyelin accumulates in the reticuloendothelial cells of liver, spleen,
bone marrow and brain.
2- Sphingolipidosis due to a deficiency in hexosaminidase A is known as Tay-Sac
hs'disease.
- It is characterized by hyperacusis, mental retardation, seizures, cherry red
macula, but not hepatosplenomegaly or cervical lymphadenopathy.
3- Sphingolipidosis due to a deficiency in glucocerebrosidase is known as Gauch
er's disease.
- It is characterized by hepatosplenomegaly, anemia, leucopoenia and thrombocy
topenia, but not cherry red macula.
4- Sphingolipidosis due to a deficiency in galactocerebrosidase is known as Kra
bbe's disease.
- It is characterized by hyperacusis, irritability and seizures.
5- Mucopolysaccharidoses are characterized by coarse facial features, hydroceph
alus and umbilical hernia.
. Neonatal tetanus:
___________________
. Is generally seen in infants born to unimmunized mothers, frequently followin
g umbilical stump infection.
. Affected infants initially present in the first two weeks of life with poor s
uckling and fatigue, followed by rigidity, spasms and opisthotonus.
. Mongolian spot:
_________________
. The classic description (ie , well-demarcated, flat blue/gray lesion on the s
acral or presacral area) of a Mongolian spot.
. This lesion is seen more commonly in dark skinned children.
. It is caused by entrapment of melanin-containing melanocytes during their mig
ration from the neural crest into the epidermis in fetal development.
. and usually disappears in the first few years of life, most cases do not requ
ire any treatment.
. Mostly located at the base of the spine, lower back, and buttocks, it can als
o be seen in other parts such as the shoulders, arms, wrists, legs, ankles or ab
domen.
. The face, palms and soles are usually spared
N.B.:
- Cafe-au-lait spots are well-demarcated, tan or light brown flat lesions that
can vary in number, size, and distribution.
. This finding may indicate neurofibromatosis if the diameter is larger than 0.
5 mm and if more than 5 lesions are found.
- Cutis Marmorata appears as a lace-like pattern on the skin in response to col
d or stress.
. It can persist in some diseases such as Down's syndrome and trisomy 18.
- A salmon patch is a flat salmon-colored lesion commonly seen over the glabell
a, eyelids, and neck.
. It is a vascular lesion that usually disappears in early childhood.
. Indications of the evaluation of neonatal jaundice include:
_____________________________________________________________
1. Conjugated hyperbilirubinemia (> 2 mg/dL)
2. Jaundice that appears in the first 24 - 36 hours of life.
2. Serum bilirubin rising at a rate faster than 5 mg/dl/24 hours.
3. Serum bilirubin greater than 12 mg/dl in full-term (especially in the absence
of risk factors) or 10 - 14 mg/dl in preterm infants.
4. Jaundice persists after 10 -14 days of life.
5. The presence of signs or symptoms.
N.B.: Conjugated hyperbilirubinemia (> 2 mg/dL):
- Association with light colored stools, hepatomegaly, and direct (conjugated)
hyperbilirubinemia.
- Is indicative of neonatal cholestasis and impaired hepatic excretion of bilir
ubin, either by extrahepatic obstruction or liver cell injury.
- With conjugated neonatal hyperbilirubinemia, priority should be given to cond
itions that require prompt diagnosis and treatment, such as
sepsis, endocrinopathy (hypothyroidism). and nutritional hepatotoxicity cause
d by metabolic diseases (galactosemia, tyrosinemia).
- After these diagnoses are ruled out, the final step is to differentiate bilia
ry atresia from neonatal hepatitis.
. Breast-milk jaundice:
_______________________
. Appears in the second week of life; however, the hyperbilirubinemia is indire
ct (unconjugated).
. The unconjugated bilirubin levels may rise as high as 10-30 mg/dl Levels drop
rapidly as soon as breastfeeding is stopped,
and the infant is given milk formula for 1-2 days.
. After 2-3 days the breastfeeding can be resumed, and usually there is no retu
rn of the hyperbilirubinemia.
. Although it is a benign condition in some instances, phototherapy may be indi
cated.
. Physiologic jaundice:
_______________________
. Consists of moderate unconjugated hyperbilirubinemia (< 12-14 mg/dL) appears
after the first 24 hours of life and resolves before the end of the first week.
. It is a benign condition and is more common in preterm infants, infants of di
abetic mothers, and infants of Asian or Native American descent.
. Crigler-Najjar and Gilbert's syndrome:
________________________________________
. Are inherited deficiencies of UDP-glucuronyl transferase that result in uncon
jugated hyperbilirubinemia.
. In Gilbert's syndrome, the deficiency is mild, and patients are asymptomatic
due to the mild indirect hyperbilirubinemia.
. In Crigler-Najjar syndrome, the enzyme is absent; patients present early in l
ife, and die within their first few years.
. Erythroblastosis fetalis:
___________________________
. is characterized by unconjugated hyperbilirubinemia and anemia.
. The diagnosis is suggested by a positive Coombs' test.
. Care of a neonate:
____________________
. Early neonatal care in an uncomplicated pregnancy include:
. initial physical assessment, removal of airway secretions, drying the infant
& keeping him warm, & early preventive measures (gonococcal ophthalmia preventio
n, vitamin K supplementation).
=========================================================================== Endo
crinology & Genetics ===========================================================
. Precocious pubarche (Puberty):
_________________________________
. It is very important to differentiate between precocious puberty that is caus
ed by premature activation of the hypothalamus-pituitary-gonad (HPG) axis,
and precocious pseudo-puberty that is caused by a gonadotropin-independent pr
ocess, typically an excess of sex steroids.
. In case of precocious pseudo-puberty: there is signs of severe androgen exces
s (i. e. severe cystic acne, significant growth acceleration) which suggests pre
cocious
pseudo-puberty It can be caused by late-onset congenital adrenal hyperplasia
(21-hydroxylase defficiency).
. Hypothalamic dysfunction leading to precocious puberty is usually less dramat
ic in presentation Sequential development of testicular enlargement, penis enlar
gement, pubic hair
growth, and then growth spurt is typically present.
. Severe hypothyroidism is a rare cause of precocious puberty, and is character
ized by slowing (not acceleration) of growth.
. Klinefelter's syndrome may present with a height that is higher than normal,
but signs of androgen excess are not typical.
. 47, XYY karyotype may manifest as severe acne, but precocious puberty is not
characteristic.
. Premature adrenarche: Extremely high yield question for USMLE
_______________________
. characterized by the isolated appearance of axillary hair before the age of s
ix years.
. This change results from premature androgen secretion of the adrenal glands.
. The condition is generally benign and has no clinical significance.
. On the other hand, premature pubarche (pubic hair growth before the age of 8
years) is more alarming, as it is associated in 50% of cases with a CNS disorder
.
. Congenital adrenal hyperplasia (CAH):
_______________________________________
. Congenital adrenal hyperplasia (CAH): is a group of syndromes characterized b
y a deficiency in one of the enzymes responsible for steroid synthesis.
. The most common syndrome is 21-hydroxylase deficiency, which results in exces
s 17-alpha-hydroxyprogesterone metabolite that is shunted to androgen,
thereby resulting in hirsutism or virilism.
. This deficiency also leads to a decreased production of mineralocorticoids an
d glucocorticoids, and consequent hyponatremia and hyperkalemia.
. Complete deficiencies can present at birth with ambiguous genitalia, salt was
ting and dehydration.
. In partial deficiencies, patients usually present during puberty or adulthood
with virilism, which may or may not be associated with salt wasting.
. The diagnosis is suggested by increased levels of 17-alpha-hydroxyprogesteron
e and confirmed with ACTH stimulation test.
. Adolescent onset of hirsutism and virilism, with normal menstruations and ele
vated 17-hydroxyprogesterone, are diagnostic of congenital adrenal hyperplasia.
N.B.:
1- Thyroid dysgenesis is the most common cause of congenital hypothyroidism in
United States.
2- Iodine deficiency or endemic goiter is the most common cause of congenital h
ypothyroidism worldwide, but is essentially not seen in the United States.
.N.B:
- Mammary gland enlargement and non-purulent vaginal discharge are common findi
ngs in newborn infants.
. These are transitory physiologic events due to infant's physiologic target-or
gan response to transplacentally acquired maternal hormones (estrogens).
. Therefore, such infants only require observation and routine care.
. Primary amenorrhea:
_____________________
. The most common cause of primary amenorrhea is Turner syndrome, a 45,XO karyo
type chromosomal disorder.
. It may also result from anatomic abnormalities (imperforate hymen, absent ute
rus), hypothalamic/pituitary dysfunction, hyperandrogenism or pseudohermaphrodit
ism.
. Turner syndrome is characterized by short stature, webbed neck, hypogonadism
(streak ovaries), lymphedema, high-arched palate,
congenitally bicuspid aortic valves, and coarctation of the aorta.
. Most commonly, ovarian failure in Turner syndrome manifests with delayed pube
rty, though at least 1/5 of patients will have a normal puberty followed by earl
y menopause.
. The decreased femoral pulses may indicate aortic coarctation, which occurs in
approximately 10% of patients with Turner syndrome.
. This clinical diagnosis should be confirmed by karyotype analysis.
.N.B.:
- A progesterone challenge: is used in the diagnostic evaluation of amenorrhea
in patients with both a uterus and normally developed breasts.
- Hyperprolactinemia can cause secondary amenorrhea as prolactin decreases GnRH
production and release.
- 17-hydroxyprogesterone measurement is indicated when congenital adrenal hyper
plasia is suspected as a possible cause of primary amenorrhea.
. Serum 17-0H progesterone is elevated in 21- and 11-hydroxylase deficiencies a
nd is decreased in 17-hydroxylase deficiency
. McCune-Albright syndrome:
___________________________
. is a rare condition characterized by precocious puberty, cafe au lait spots a
nd multiple bone defects (polyostotic fibrous dysplasia).
. It is responsible for 5% of the cases of female precocious puberty, and may b
e associated with other endocrine disorders,
such as hyperthyroidism, prolactin- or GH-secreting pituitary adenomas, and a
drenal hypercortisolism.
. McCune-Albright syndrome is sporadic and has been recently attributed to a de
fect in the G-protein cAMP-kinase function in the affected tissue, thereby resul
ting
in autonomous activity of that tissue.
. Remember the 3 P's of McCune-Albright syndrome precocious puberty, pigmentati
on (cafe au lait spots) and polyostotic fibrous dysplasia.
.N.B.: Adrenal tumors result most commonly in heterosexual precocious puberty (i
.e , premature development of male secondary sexual characteristics in a female)
.
. Cri-du-chat syndrome:
_______________________
. Is due to 5p deletion and presents as a cat-like cry.
. Also hypotonia, short stature, microcephaly with protruding metopic suture, m
oonlike face, hypertelorism, bilateral epicanthal folds,
high arched palate, wide and flat nasal bridge, and mental retardation.
. Gaucher's disease:
____________________
. Is due to the deficient activity of the lysosomal enzyme, acid beta-glucosida
se.
. The typical patient is an Ashkenazi Jewish adolescent with chronic fatigue,ea
sy bruisability, bone pain, and pathological fractures.
. Diagnosis is confirmed with radiologic (Erlenmeyer flask deformity of the dis
tal femur) and bone marrow studies (Gaucher cells with wrinkled paper appearance
).
. Niemann-pick disease:
_______________________
. Types A and B result from the deficient activity of sphingomyelinase.
. this is a fatal disorder of infancy Clinical manifestations include failure t
o thrive, hepatosplenomegaly, and
. a rapidly progressive neurodegenerative course that eventually leads to death
by age 2-3 years.
. Beckwith-Wiedemann syndrome:
______________________________
. The exact cause is unknown, but sometimes associated with duplication of chro
mosome 11 p.
. This region contains the gene encoding for IGF-2, which may explain the macro
somia.
. Present with macrosomia, macroglossia, visceromegaly, omphalocele, hypoglycem
ia, hyperinsulinemia, prominent eyes, prominent occiput, ear creases & pancreati
c hyperplasia.
. It is usually sporadic, but occasional cases have familial inheritance.
. Sometimes, the hypoglycemia may be severe and intractable, and subtotal pancr
eatectomy may be needed.
. Patients have an increased risk of neoplasms such as Wilms' tumor, hepatoblas
toma, and gonadoblastoma
. Lesch-Nyhan syndrome:
_______________________
. Is secondary to a deficiency in hypoxanthine-guanine phosphoribosyl transfera
se (HPRT).
. Symptoms: self-mutilation (self-injury, especially biting of the upper extrem
ities), neurologic features (mental retardation, dystonia, choreoathetosis, spas
ticity).
. Gouty arthritis, and tophus formation.
. Gout is usually seen in patients above 50 years of age; therefore, suspect Le
sch-Nyhan syndrome if you see a boy with gout.
. All victims of Lesch-Nyhan syndrome are male.
. Prader-Willi syndrome (PWS):
______________________________
. Is a sporadic disorder, in 50-70 % of cases, there is a deletion in the long
arm of chromosome 15.
. PWS displays a particular type of genetic transmission called genomic imprint
ing, wherein the phenotype expression depends on whether
the genetic defect is inherited from the mother or the father.
. presentation: severe hypotonia at birth or infancy, hyperphagia, obesity, sho
rt stature and mental retardation.
. The typical craniofacial features are narrow bifrontal diameter, diamond-shap
ed eyes and a small, down-turned mouth.
. Hypothalamic dysfunctions (GH deficiency and hypogonadotropic hypogonadism) m
ay be present.
. The associated short stature, obesity and hypotonia usually respond to GH adm
inistration; however,
the implication of GH deficiency accompanying PWS in the development of these
features is still controversial.
.N.B:
- If you see a vignette with a child that is >2-years-old, it is unlikely that
the diagnosis is Patau's or Edward's syndrome.
. Macrosomia secondary to maternal diabetes:
________________________________________
. Important differ. diag. of Beckwith-Wiedemann syndrome; but here infants do n
ot present with dysmorphic features as omphalocele, prominent occiput & macroglo
ssia.
. Moreover, the prenatal and birth histories of the patient maternat D.M.
. The common congenital problems that in an 'infant of diabetic mother:
1. Caudal regression syndrome
2. Transposition of great vessels.
3. Duodenal atresia and small left colon.
4. Anencephaly and neural tube defects.
. WAGR syndrome:
________________
. Characterized by Wilms' tumor, aniridia, genitourinary anomaly and mental ret
ardation.
. It is related to a deletion in chromosome 11 involving the gene WT1. (Wilms'
Tumor 1 gene) and aniridia gene PAX6.
. Galactosemia:
_______________
. Is a metabolic disorder caused by galactose-1-phosphate uridyl transferase de
ficiency, eading to elevated blood levels of galactose.
. Manifest a few days or weeks after the infant starts taking formula or breast
milk.
. These include liver failure (hepatomegaly, direct hyperbilirubinemia, disorde
rs of coagulation), abnormal renal function, emesis, anorexia, acidosis & glycos
uria.
. Present with: infant or newborn with failure to thrive, bilateral cataracts,
jaundice and hypoglycemia.
. Other common manifestations: aminoaciduria, hepatic cirrhosis, hypoglycemia,
and mental retardation.
. Such patients are at increased risk for E.coli neonatal sepsis.
. Galactosemia is NOT a self-limiting condition.
. Early diagnosis and treatment by el imination of galactose from the diet are
mandatory.
. phenylketonuria:
__________________
. an autosomal recessive disorder.
. It occurs in approximately 1/10,000 births, and is more frequent in the Cauca
sian and Asian populations.
. Pathology: a deficiency in phenylalanine hydroxylase, that breaks down phenyl
alanine into tyrosine.
. This deficiency leads to the accumulation of phenylalanine and its metabolic
products in the blood and body tissues (particularly in the brain).
. If untreated, the defect can produce mental retardation and seizures.
. The most commonly used screening test is the determination of blood phenylala
nine levels.
. Guthrie test, which is a qualitative (coloration) test, can also be used as i
t detects the presence of metabolic products of phenylalanine in the urine.
. Treatment: a low-phenylalanine diet, since little amounts of phenylalanine ar
e still necessary for growth and development.
. Cereals, starches, fruits, vegetables, and phenylalanine-free milk formulas a
re recommended.
. High-protein foods should be avoided.
. Early diagnosis and treatment can improve the prognosis, with most (treated)
patients having normal mental development and a normal life span.
. Congenital hypothyroidism:
____________________________
. The most common cause is thyroid dysgenesis (ie , aplasia, hypoplasia, or ect
opic gland).
. Other causes: inborn errors of thyroxin synthesis, and transplacental materna
l thyrotropin- receptor blocking antibodies.
. Infants initially appear normal at birth, but gradually develop apathy, weakn
ess, hypotonia, large tongue, sluggish movement, abdominal bloating & umbilical
hernia.
. Other signs: pathologic jaundice, difficult breathing, noisy respiration, hyp
othermia, and refractory macrocytic anemia.
. Infants initially appear normal due to the presence of moderate amounts of ma
ternal hormones in the infant's circulation.
. So, screening is mandated in all states at birth to allow for the early detec
tion, treatment, and consequent improvement of the prognosis.
. Screening is done by measuring serum T4 and TSH levels.
. The treatment is levothyroxine.
. Fragile X syndrome:
_____________________
. Male infant with a characteristic appearance (la rge head, long face, promine
nt forehead and chin, protruding ears), joint laxity, and large testes.
. Behavioral abnormalities: hyperactivity, short attention span, and autism, ar
e common.
. It results from a full mutation in the FMR1 gene caused by an increased numbe
r of CGG trinucleotide repeats accompanied by aberrant methylation of the FMR1 g
ene.
. Turner syndrome:
__________________
. Presentation: short stature, short webbed neck and broad chest with widely sp
aced nipples and 45 XO karyotype.
. Other features: a low posterior hairline, gonadal dysgenesis, infertility and
primary amenorrhea, which may occur as the child grows.
. A higher incidence of cardiac anomaly: coarctation of the aorta (COA) and a b
icuspid aortic valve.
. Physical findings of COA include upper extremity hypertension and a delay in
the radial-femoral pulse.
. Congestive heart failure may be seen in infants with severe cases.
. The diagnosis is made with an echocardiogram and the treatment is surgery.
. There is higher risk of renal abnormalities, particularly horseshoe kidney, a
nd should have a screening ultrasound after the diagnosis is made.
. Swollen hands and feet due to congenital lymphedema, which is common in patie
nts with Turner syndrome due to abnormal development of the lymphatic network.
. Edema that is due to lymphedema is generally nonpitting on physical exam.
. Patients are prone to osteoporosis which increases the risk of bone fracture,
this is due to low estrogen levels from gonadal dysgenesis.
. Edward's syndrome:
____________________
. trisomy 18.
. The features: micrognathia, microcephaly, rocker bottom feet, overlapping fin
gers and absent palmar creases.
. Closed fists with index finger overlapping the 3rd digit and the 5th digit ov
erlapping the 4th, and rocker bottom feet.
. Congenital heart disease occurs in greater than 50 % of affected patients; ve
ntricular septal defect is the most common one.
. 80% of affected children die in the first month, 90% die by 1 year and remain
ing 5-10% are mentally retarded.
. Osteomalacia caused by vitamin D deficiency:
_______________________________________________
. Vitamin D deficiency leads to decreased intestinal calcium absorption and hyp
ocalcemia.
. Hypocalcemia stimulates parathyroid glands & secondary hyperparathyroidism re
sults, which brings serum calcium to normal or near normal, especially in early
stages.
. Secondary hyperparathyroidism causes hypophosphatemia by increasing its urina
ry excretion.
. Therefore, vitamin D deficiency causes more marked hypophosphatemia than hypo
calcemia, especially in early stages.
. Labs show low or low-normal serum calcium, low serum phosphate, increased ser
um pTH, low plasma 25-OH vitamin D & normal, low or elevated 1,25 dihydroxy vita
min D (calcitriol).
. In patients with Pseudohypoparathyroidism, labs show low serum calcium, high
serum phosphate and high serum PTH.
. Serum alkaline phosphatase and vitamin D levels are within normal limit.
. Patients with renal failure will have low serum calcium, high serum phosphate
, high serum PTH (due to secondary hyperparathyroidism) and low serum 1,25 dihyd
roxy vitamin D.
. Patients with X-linked hypophosphatemic rickets have low serum phosphate due
to renal phosphate wasting.
. They have normal serum calcium, normal serum PTH and normal serum alkaline ph
osphatase and normal levels of serum 25-hydroxy vitamin D.
. There may also be a functional defect in the activity of 1-hydroxylase and as
a result serum levels of calcitriol may below.
. In type II vitamin D dependent rickets, there is mutation of vitamin D recept
or.
. Therefore, these patients have normal serum levels of calcitriol but it is in
effective and as a result osteomalacia occurs.
. Pubertal gynecomastia: Extremely high yield question for USMLE!!!
________________________
. is seen in approximately one-half of adolescent boys, at an average age of 14
years.
. It is often asymmetric or transiently unilateral, and frequently tender.
. In prepubertal males the testicular size is normally 2 cm in length and 3 ml
in volume.
. The initial management involves reassurance and watchful waiting/observation.
. Down syndrome:
________________
. Patients with Down syndrome may have a wide range in severity of manifestatio
ns.
. The most common congenital heart defect is an endocardial cushion defect of t
he atrioventricular (AV) canal.
. Other congenital heart defects: PDA & ventricular septal defect (condenital h
eart defects are the most common cause of death in childhood).
. AV canal defects are diagnosed with ECho.
. The left to right shunt due to the (AV) defect can develop into pulmonary hyp
ertension,that manifested as a loud P2 on auscultation & has a high morbidity.
. AV canal defects may be partial or complete, but both need early surgical cor
rection to prevent pulmonary hypertension.
. Patients with Down's syndrome have a high predilection for duodenal atresia.
. Other GIT anomalies: Hirschsprung's disease, Esophageal atresia, Pylo ric ste
nosis, Malrotation of the bowel.
. Atlantoaxial instability is commonly seen in Down syndrome, and most commonly
occurs due to excessive laxity in the posterior transverse ligament, which caus
es
increased mobility between the atlas (C1) and the axis (C2).
. Symptoms of atlantoaxial instability: behavioral changes, torticollis, urinar
y incontinence, and vertebrobasilar symptoms as dizziness, vertigo, and diplopia
.
. Also upper motor neuron symptoms such as leg spasticity, hyperreflexia, a pos
itive Babinski sign, and clonus.
. Patients with Down syndrome are normally hypotonic, and they may remain hypot
onic or have increased tone due to atlantoaxial instability.
. It is diagnosed by lateral radiographs of cervical spine in flexion, extensio
n & in a neutral position Open mouth radiographs can also visualize the odontoid
.
. Treatment: surgical fusion of the first cervical vertebrae (C1) to the second
(C2).
. Marfan syndrome:
__________________
. MSF is an autosomal dominant disorder that results from the mutations of the
fibrill in-1 (FBN1) gene.
. It presents with tall stature, long and emaciated extremities, arachnodactyly
, hypermobility of the joints, upward lens dislocation, and aortic root dilation
.
. Homocystinuria:
_________________
. An autosomal recessive disease caused by cystathionine synthase deficiency.
. Her features are characteristic of Marfan's syndrome (tall stature, long emac
iated extremities, arachnodactyly, hyperlaxity of the skin and joints).
. But her clinical presentation of a stroke is highly indicative of homocystinu
ria.
. Remember: Marfan's features + thromboembolic events = classic homocystinuria.
. Thromboembolic events at any age, due to the pathologic changes in the vessel
walls and increased adhesiveness of the platelets (commonly cerebral vessels).
. Lens dislocation (ectopia lentis): In Marfan's syndrome, the lens is dislocat
ed upward, and in homocystinuria, it is dislocated downward.
. Elevation of both homocysteine and methionine in body fluids confirm the diag
nosis.
. The initial treatment: high doses of Vitamin B6.
. Restriction of methionine along with supplementation of cysteine is used for
patients not responsive to Vitamin B6 therapy.
. Glucose-6-phosphatase deficiency:
___________________________________
. is also known as type I glycogen storage disease and Von-Gierkes' disease.
. As its name suggests, this condition is caused by deficient glucose-6-phospha
tase in the liver, kidneys, and intestinal mucosa.
. The typical patient, is 3-4 months of age with hypoglycemia, lactic acidosis,
hyperuricemia, and hyperlipidemia.
. Hypoglycemic seizures may occur.
. The characteristic features: a doll-like face (fat cheeks), thin extremities,
short stature, and a protuberant abdomen (due to the enlarged liver and kidneys
).
. The spleen and heart are normal.
=========================================================================== Neph
rology =================================================================
. Systemic Lupus erythematosus:
_________________________________
. Positive anti-Smith antibodies and/or anti-double stranded DNA antibodies is
specific and confirmatory for the diagnosis of systemic lupus erythematosus
. Transient proteinuria:
________________________
. A urine dipstick can be positive in up to 10% of school-aged children. Protei
nuria in children can be transient (intermittent), orthostatic, or persistent.
. Transient proteinuria is the most common cause of proteinuria and can be caus
ed by fever, exercise, seizures, stress, or volume depletion.
. Orthostatic proteinuria is very common in adolescent boys and is defined as i
ncreased protein when the patient is in an upright position
that returns to normal when the patient is recumbent.
. If the urinalysis shows no hematuria and is otherwise normal, the urine dipst
ick should be repeated on at least two additional specimens.
. If these subsequent tests are negative for protein, the diagnosis is transien
t proteinuria that are usually benign conditions that require no further evaluat
ion.
. Posterior urethral valves:
____________________________
. are the most common congenital obstructive urethral lesion in males.
. There is midline lower abdominal mass probably represents a distended bladder
.
. The finding of a distended bladder indicates that the obstructive lesion is d
istal to the bladder neck.
. Posterior urethral valves are abnormal folds in the posterior urethral wall (
distal prostatic urethra) that obstruct urine flow out of the bladder.
. Affected infants may develop hydronephrosis, azotemia, and failure to thrive.
. A voiding cystourethrogram (VCUG) is the diagnostic test of choice.
. Bladder exstrophy:
____________________
. Results from a ventral defect of the urogenital sinus, which causes separatio
n of the pubic rami, external rotation of the hips,
and separation of the rectus abdominis muscles.
. The resulting ventral midline defect allows protrusion of a malformed bladder
.
. This condition is associated with epispadias, recurrent urinary tract infecti
ons, and urinary incontinence.
. Hypospadias:
______________
. is a congenital abnormality where the penile urethra opens on the ventral sur
face of the penis rather than at the tip.
. It results from incomplete fusion of the urethral folds on the ventral penis.
. urachus:
__________
. is a tubular extension of the allantois that extends from the bladder to the
umbilicus.
. It is normally obliterated during fetal development A patent urachus can resu
lt in an urachal fistula, cyst or sinus.
. None of these conditions would interfere with urine drainage from the bladder
.
. An omphalomesenteric duct cyst:
_________________________________
. is a focal failure of vitelline duct obliteration.
. Such a vitelline cyst may cause a small midline mass deep to the umbilicus.
. The cyst could be attached to the umbilicus and the wall of the ileum by vite
lline remnants and may cause small intestinal volvulus.
. Cryptorchidism:
_________________
. is a fa ilure of one or both testes to descend from the abdomen through the i
nguinal canal(s) into the scrotum.
. Wilms tumor (nephroblastoma):
_______________________________
. Wilms tumor is usually diagnosed between the ages of two and five years.
. It is the most common primary renal neoplasm of childhood.
. 80% of the cases have an asymptomatic abdominal mass that is usually detected
by the mother/caretaker while bathing the child.
. The mass may be bilateral, symptoms may include hypertension, hematuria, abdo
minal pain, and vomiting.
. In a few cases, it may present with lung metastases.
. It is associated with Beckwith-Wiedemann and Denys-Drash syndromes.
. The treatment is nephrectomy.
. If treated in the early stage, majority of the patients have a long-term surv
ival.
. It arises from metanephros, which is the embryologic precursor of the renal p
arenchyma.
. Neuroblastoma (NBL):
______________________
. Neuroblastoma, which is the most common extracranial solid tumor of childhood
.
. The median age at diagnosis is 2 years.
. The tumor arises from neural crest cells, which are also the precursor cells
of the sympathetic chains and adrenal medulla.
. For this reason, NBL may arise from the adrenal gland or any location along t
he paravertebral sympathetic chains.
. The most common site involved is the abdomen, either from the adrenals or ret
roperitoneal ganglia.
. The mass is usually firm and nodular in consistency Calcifications and hemorr
hages are seen on plain x- ray and CT scan.
. Up to 70 % of patients have metastatic disease at time of presentation, and t
he most common metastatic sites are: long bones, skull, bone marrow, liver, L.N.
& skin.
. The levels of serum and urine catecholamines and their metabolites (i.e. HVA
and VMA) are usually elevated;
. however, patients do not present with fainting spells, sweating, palpitations
and hypertension, as in pheochromocytoma.

. Renal tubular acidosis (RTA):
_______________________________
. Is a normal anion gap metabolic acidosis caused by a defect in the ability of
the renal tubules to reabsorb bicarbonate or excrete hydrogen.
. There are three types of RTA:
1. Type 1 or distal RTA occurs due to a defect in hydrogen ion secretion.
These patients are acidotic, hypokalemic, and have an elevated urinary pH In
children, type 1 RTA is often a genetic disorder.
Patients commonly develop nephrolithiasis.
2. Type 2 RTA is caused by decreased bicarbonate reabsorption in the proximal t
ubule. Fanconi syndrome is a common cause in children.
3. Type 4 RTA is caused by a defect in the sodium/potassium exchange in the dis
tal tubule which results in hyperkalemic, hyperchloremic acidosis.
In children, obstructive uropathy, renal disease, or multicystic dysplastic
kidneys are common causes.
. Renal tubular acidosis can present as growth failure and should be considered
in the differential diagnosis for failure to thrive.
. Screening labs will show a low bicarbonate level with an increase in chloride
, producing a normal anion gap metabolic acidosis.
. Minimal change disease:
_________________________
. The most common cause of nephrotic syndrome in patients younger than 16 years
old.
. Light microscopy and immunofluorescence does not usually reveal any change in
kidney architecture.
. Electron microscopy shows diffuse effacement of foot processes of podocytes.
. Minimal change disease is a highly steroid-sensitive condition and is the mos
t common cause of nephrotic syndrome in children.
. For these reasons, empiric steroid therapy is indicated in any child with a c
linical presentation suggestive of nephrotic syndrome
. Steroids are the treatment of choice.
N.B.:
- Renal biopsy is commonly used in adult patients presenting with nephrotic syn
drome.
- Diffuse thickening of glomerular basement membrane & subepithelial spikes are
characteristic for membranous glomerulonephritis, which is the most common
cause of nephrotic syndrome in adults, it is relatively uncommon in younger p
atients.
- Crescent formation is a typical finding for rapidly progressive glomeruloneph
ritis.
. Vaginal foreign bodies:
_________________________
. Common in pre-pubertal children, Present with acute or chronic vaginal discha
rge, foul-smelling odor, and vaginal bleeding.
. If the object is large or has sharp edges, the patient may also complain of p
ain.
. The vaginitis produced by a foreign body can cause the child to have urinary
complaints as well.
. The most common vaginal foreign body found in children is toilet paper.
. Other items: toys or coins that the child has placed into her vagina.
. Any child with vaginal discharge should have a vaginal examination, which is
usually performed by placing the child in a knee to chest or frog-legged positio
n.
. The external genitalia should be examined as well as the vaginal introitus.
. Foreign bodies can often be seen if the child is asked to valsalva during the
examination.
. If needed, a nasal speculum may be used.
. If a foreign body is seen, irrigation with warmed fluid should be performed i
n an attempt to flush out the foreign body.
. If irrigation is unsuccessful, examination and foreign body removal should be
done with sedation or general anesthesia.
. Nocturnal enuresis:
_____________________
. Due to a developmental disorder or maturational lag in bladder control while
asleep.
. The condition is more common in boys and in those with a positive family hist
ory.
. More than 20% of the cases spontaneously resolve before the patients are scho
ol age.
. Reassurance of the parents is usually the first step in management, although
some physicians recommend bladder exercises and scheduled toileting.
. Conditioning with "wet" alarms and waking the child in the middle of the nigh
t have also helped a moderate number of children.
. For patients with persistent nocturnal enuresis, the drug of choice is DDAVP
(desmopressin) .
. The second line medication is imipramine.
N.B.:
- Bedwetting is considered normal before the age of 5 years and no investigatio
ns or medical treatment should be prescribed for it.
. Fibromuscular dysplasia:
_________________________
. The most common cause of secondary hypertension in children is fibromuscular
dysplasia.
. It is responsible for approximately 20% of all cases of renal hypertension.
. Aside from children, fibromuscular dysplasia is also generally seen in premen
opausal women (or women less than 50 years old).
. Physical examination reveals a hum or bruit in the costovertebral angle due t
o well-developed collaterals.
. The right renal artery is more affected than the left.
. Angiography typically shows a "string of beads" pattern to the renal artery.
. Vesicoureteral reflux (VUR):
______________________________
. Is the retrograde flow of urine from the bladder to the ureter and renal pelv
is.
. Reflux is a risk factor for UTI & Repeated attacks of UTI can lead to progres
sive renal scarring,
which is the major cause of end stage renal disease and hypertension in child
ren.
. It is a risk factor for UTI as it facilitates the transport of bacteria from
bladder to the upper urinary tract,
. this explains why VUR is the most likely cause of acute UTI in children.
. VUR is present in 35-40 o/o of children with UTI.
. The diagnosis is made with voiding cystourethrogram (VCUG) followed by renal
imaging.
. Diagnosis of VUR is best made with a voiding cystourethrogram or a radionucli
de cystogram (RNC).
. Renal ultrasonography is less sensitive in detecting reflux nephropathy.
. The American Academy of Pediatrics recommends that all children aged 2 to 24
months with a first UTI should undergo a VCUG or RNC to detect the presence VUR.
. N.B:
- Chronic pyelonephritis is characterized by focal parenchymal scarring and blu
nting of calices on IVP.
- Hydronephrosis is seen on IVP as dilation of the collecting system including
the calyces, pelvis and ureter, depending on the level of obstruction.
- Ureteropelvic obstruction would also lead to hydronephrotic changes in the ki
dney with IVP showing the level of obstruction as a constriction in the flow of
dye.
. Acute pyelonephritis:
_______________________
. usually present with fever, chills, nausea, vomiting and flank or suprapubic
pain.
. Physical examination shows costovertebral angle tenderness.
. Urinalysis shows bacteriuria and pyuria.
. Therapy should be started with empiric antibiotics after withdrawal blood & u
rine for culture and sensitivity and before its results are available.
. Severe disease with systemic manifestations warrants intravenous (IV) antibio
tics.
. If patient is vomiting and hypotensive; therefore, IV antibiotics should be a
dministered.
========================================================================= Infect
ion =====================================================================
. Measles (rubeola):
____________________
. It is caused by Paramyxovirus.
. Characterized by a prodrome of non-productive cough, coryza, non-purulent con
junctivitis, followed by
. Koplik's spots (pathognomonic): red spots with bluish specks over the buccal
mucosa, opposite the premolar tooth & sometimes on the inner conjunctivae & vagi
nal mucosa
. And maculopapular rash initially appearing on the face then spread to involve
the entire body.
. Lab. findings: leukopenia, lymphopenia and Proteinuria may be seen.
. Diagnosis is mostly clinical and can be supported by a fourfold rise in hemag
glutination inhibition antibody titer.
. Leukopenia (T-cell cytopenia) and thrombocytopenia can be seen with measles i
nfection.
. Vitamin A has been shown to reduce the morbidity and mortality rates of patie
nts with measles through immune enhancement.
. It also helps the gastrointestinal and respiratory epithelium to regenerate.
. N.B.: - Atypical measles:
- Occurs in persons who have previously received inactivated measles vaccine (
was available in the 1960's), (the measles vaccine available now is a live one).
- This form is potentially life-threatening, and characterized by atypical rash
(not maculopapular), the absence of Koplik spots, arthritis,
hepatitis and lung involvement Edema of the hands and feet may occur.
. Rubella:
__________
. characterized by low-grade fever, lymphadenopathy (sub-occipital and posterio
r auricular) and rash.
. The rash is erythematous, maculopapular and classically begins on the face, s
preading subsequently down the body.
. congenital rubella infection:
_______________________________
. Transmitted via the placenta, the causative organism is Toga virus.
. Maternal infection manifests after an incubation period of 14 to 21 days with
mild symptoms such as rash, arthralgias and generalized lymphadenopathy.
. Since rubella infection confers permanent immunity, only primary infection in
the pregnant woman carries the risk of fetal disease.
. The severity of fetal disease depends on the time of pregnancy when the trans
mission took place.
. Infections of early pregnancy are the most severe, and the associated adverse
outcomes include spontaneous abortion and congenital rubella syndrome (CRS).
. If transmission occurs in the first 4 weeks of pregnancy, the risk of develop
ing CRS is 50%, drops to 1 % if transmission occurs in the third trimester.
. Features of CRS: IUGR, deafness, cardiac malformations (e g , patent ductus a
rteriosus, atrial septal defects), microphthalmia,
cataract, retinopathy, hepatosplenomegaly, thrombocytopenia, and CNS involvem
ent.
. Chronic infection may result in growth retardation, radiolucent bone disease,
jaundice, hepatosplenomegaly, thrombocytopenia and purple skin lesions
("blueberry muffin spots").
. Maternal infection is confirmed by the presence of lgM to rubella virus, or a
fourfold increase in lgG on two serum samples obtained two weeks apart.
. In the infant, the diagnosis is confirmed by the presence of lgM or persisten
ce of lgG beyond the age of 6 months.
. Prevention of congenital rubella is primarily achieved by administration of r
ubella vaccine to all females of childbearing age.
. If the immunologic status of a pregnant woman is unknown, rubella titers shou
ld be obtained in the first trimester.
. Immunization should not be performed in pregnancy because of a theoretical ri
sk for the fetus, and such women should be advised to avoid anyone with possible
rubella infection.
. classic triad of congenital rubella syndrome (CRS) - sensorineural deafness,
cardiac malformations (e g , PDA and ASD), and cataracts.
. Erythema infectiosum or Fifth disease:
________________________________________
. caused by human parvovirus 819.
. Children have different presentations and develop a rash with a "slapped chee
ks" appearance.
. Fever is not present or very mild in this disease.
. Roseola infantum:
___________________
. Caused by herpes virus 6.
. Characterized by the abrupt onset of high-grade fever, which is then followed
by a maculopapular rash, appearing on the trunk and then spreading peripherally
.
. The patient is no longer febrile when the rash develops.
. There are no positive physical signs such as sore throat or lymphadenopathy d
uring the febrile stage.
. chickenpox (Varicella virus):
_______________________________
. The clinical manifestations of chickenpox in healthy children generally devel
op within fifteen days after the exposure.
. Include a prodrome of fever, malaise, or pharyngitis, followed by the develop
ment of a generalized vesicular rash, usually within 24 hours.
. The lesions are commonly pruritic and appear as successive crops of vesicles
over a three to four day period.
. Patients typically have lesions in different stages of development on the fac
e, trunk and extremities.
. New lesion formation generally stops within four days, and most lesions are f
ully crusted by the 6th day in normal hosts.
. Impetigo :
____________
. Is a superficial skin infection with multiple vesiculopustules on the exposed
areas of the face and extremities.
. Is a contagious disease caused by Staphylococcus aureus, Streptococcus, or bo
th.
. It presents as an erythematous macule, which rapidly evolves into vesicles an
d pustules.
. The pustules later rupture and leave honey-colored, crusted exudates.
. There are 2 forms of impetigo vesiculo-pustular and bullous types Bullous typ
e is caused by Staphylococcus.
. These vesiculopustules eventually rupture, and then appear encrusted with a c
haracteristic golden-yellow color.
. A history of skin trauma or insect bite is common, and local lymphadenopathy
can be present.
. Impetigo is most commonly seen in children, and is associated with post-strep
tococcal glomerulonephritis.
. The etiologic agent is either group-A beta-hemolytic streptococci (GABS) or S
. aureus, the clinical presentations of these organisms are almost similar.
. Factors predispose to impetigo are warm and humid climate, poverty, crowding,
poor personal hygiene, and carriage of GABS or S . aureus.
. Nasal carriage of Staphylococci can cause recurrent impetigo.
. Topical mupirocin is the treatment of choice or oral erythromycin.
. Kawasaki disease or mucocutaneous lymph node syndrome:
________________________________________________________
. Criteria of Kawasaki's disease:
1. Fever for > 5 days, and
2. Four of the following symptoms:
Bulbar conjunctiva! injection.
Desquamation of the finger and toe tips, indurative edema.
Erythema, fissuring, and crusting of the lips, strawberry tongue, and diffuse
mucosal injection of the oropharynx.
Morbill ifo rm truncal exanthem.
Cervical lymphadenopathy.
. Kawasaki disease is one of the most common causes of generalized vasculitis i
n children.
. It is usually self-limited, although it can be fatal because of giant aneurys
m formation, thrombosis or rupture of the coronary arteries, leading to MI.
. 2D echocardiography is used to assess cardiac function and coronary vasculatu
re (Coronary artery aneurysms are the most serious complication of Kawasaki dise
ase).
. A baseline echocardiography is to be performed within 7 days of the disease o
nset, then repeated 6 to 8 weeks later.
. The laboratory of Kawasaki's disease: increased (ESR) and C-reactive protein,
leukocytosis, normochromic-normocytic anemia, and thrombocytopenia.
. Thrombocytopenia is a non-specific finding and does not characterize this ill
ness.
. Fever in Kawasaki's disease poorly responds to acetaminophen.
. All patients with suspected Kawasaki disease should be hospitalized and treat
ed with intravenous immune globulin ( IVIG) and high-dose aspirin.
. The mainstays of systemic treatment of Kawasaki's disease are intravenous imm
unoglobulin (IVIG) and aspirin.
. Aspirin is useful for fever and arthritis.
. This is one of the conditions in which aspirin is recommended in children des
pite concerns about Reye's syndrome.
. Influenza vaccination is recommended in patients with Kawasaki's disease taki
ng life long aspirin therapy.
. IVIG has been shown to reduce the incidence of coronary artery aneurysms and
other complications.
. If untreated, up to 25 % of these patients may develop coronary artery aneury
sms.
. Scarlet fever:
________________
. Caused by strains of Group A streptococcus that produce erythrogenic exotoxin
s.
. Has the same mode of transmission and age of distribution as streptococcal ph
aryngitis.
. The illness may follow a streptococcal pharyngitis, wound infections, burns,
or streptococcal skin infection.
. It begins acutely after an incubation period of 1 to 7 days.
. Initial symptoms include fever, chills, toxicity, abdominal pain, and pharyng
itis.
. The rash initially appears on the neck, axillae, and groin within 12 to 48 ho
urs, and subsequently generalizes within 24 hours.
. The rash characteristically has a punctate or finely papular texture which is
sometimes readily palpable; hence, the "sandpaper-like" description.
. The pharynx is typically erythematous, swollen and possibly covered with gray
-white exudates, strawberry tongue may be present as in cases of Kawasaki diseas
e.
. The area around the mouth appears pale in comparison with the extremely red c
heeks, giving the appearance of "circumoral pallor.
. Towards the end of the first week, desquamation begins in the face, progresse
s down the trunk, and finally extends to the hands and feet.
. The most common condition with which Kawasaki's disease is confused is scarle
t fever; however, scarlet fever will have
a positive streptococcal throat test, and normal-appearing lips, as opposed t
o negative streptococcal throat test and inflamed lips in Kawasaki's disease.
. Latex agglutination test is more rapid but less accurate in the diagnosis of
scarlet fever.
. The treatment of choice for scarlet fever is a ten-day course oif penicillin
V; however, in penicill in-allergic patients, erythromycin or clindamycin can be
used.
. Treatment of scarlet fever with penicillin doesn't prevent post-streptococcal
glomerulonephritis.
. Staphylococcal scalded skin:
______________________________
. Caused by exfoliative strains of S. aureus, and is characterized by the devel
opment of superficial flaccid bullae followed by an extensive exfoliation of the
skin.
. It is most common in infancy, and rarely occurs beyond five years of age.
. Herpangina:
_____________
. is a throat infection caused by enteroviruses, especially Coxsackie A.
. It is characterized by a high fever and a severe sore throat that may result
in a complete inability to swallow, sometimes necessitating IV hydration.
. Ulcerative lesions are found on the palate, tonsils, and pharynx Sometimes,
. these lesions appear on the palms and soles & is called (hand-foot-mouth dise
ase).
. It generally does not produce a rash after taking an antibiotic.
. Infectious mononucleosis:
____________________________
. caused by the Epstein-Barr virus.
. Sometimes detected only when the patient develops a characteristic polymorpho
us rash after taking ampicillin or amoxicillin for an apparent URT infection.
. A prodrome of malaise, fever and adenopathy, the virus is spread via the sali
va, and the condition usually resolves after 2-3 weeks.
. can also present with exudative pharyngitis and lymphadenopathy.
.N.B.:
- Group A beta-hemolytic streptococci (not Group B) is responsible for 20-25% c
ases of pharyngitis in children.
. Group B streptococcus infections in the adult are serious. these are common i
n diabetics and those with peripheral vascular disease.
. Complications include endocarditis, arthritis, pneumonia, empyema and meningi
tis.
. It does not present with a rash after taking amoxicillin.
-
. Toxic epidermal necrolysis:
_____________________________
. is another form of cutaneous hypersensitivity that is sometimes considered to
be a variant of Stevens-Johnson syndrome.
. Most cases are secondary to medications, such as sulfa drugs, anticonvulsants
, and NSAIDs.
. Similar to staphylococcal-scalded syndrome, it presents with extensive erythe
ma, tenderness, and blister formation, followed by denudation of the epidermis.
. Mucous membranes are severely affected, and shedding of the nails may occur.
. Stevens-Johnson syndrome:
__________________________
. A severe variant of erythema multiforme.
. Characterized by skin lesions of erythema multiforme (target lesions), follow
ed by inflammatory bullae of two or more mucous membranes.
. Sometimes, the GI, respiratory, or GU tracts may also be involved.
. Rabies:
_________
. Fatal disease that is transmitted to humans by contact with saliva or nervou
s tissue from an infected animal through a bite, open wound, or mucus membrane c
ontact.
. Bats are a major reservoir for the rabies virus, Bat bites are often so quick
and minor that the victim is not even aware.
. For this reason, any direct contact between bats and humans requires post-exp
osure rabies prophylaxis.
. People bitten by domestic animals suspected of being rabid or not available f
or observation, or
by wild carnivores like raccoons, skunks, and foxes should also receive proph
ylaxis.
. Rabbits and small rodents like squirrels, chipmunks, and rats are ra rely inf
ected with rabies,so Post-exposure prophylaxis following bites is not routine.
. Viral meningitis:
___________________
. usually self-limited inflammation of the leptomeninges caused by a viral infe
ction.
. 90% of cases are caused by non-polio enteroviruses, such as echovirus and cox
sackievirus.
. The incidence of viral meningitis decreases with increasing age Infants are m
ost commonly affected, and disease morbidity and mortality is highest in this gr
oup.
. Present with a viral prodrome of constitutional and upper respiratory symptom
s with low-grade fever.
. Over the next 36-48 hours, the patient develops a high fever, headache, irrit
ability, and nuchal rigidity.
. Focal neurologic signs are absent.
. The patient may also present with seizures. Other symptoms of enteroviral inf
ection may also be seen such as pharyngitis, rash, or herpangina.
. In viral meningitis, (CSF) will show pleocytosis with lymphocytic predominanc
e, although neutrophils may predominate early in the course.
. The protein level is normal to slightly elevated and the glucose level is nor
mal, CSF gram stain will not show any organisms.
. Treatment is supportive; in most patients, symptoms resolve within 7-10 days.
. Viral meningitis can be caused by Epstein-Barr virus, but this is a much less
common cause than the enteroviruses.
. Bacterial meningitis:
_______________________
. caused by Streptococcus pneumoniae or Neisseria meningitidis.
. will have a similar presentation However,
. CSF examination will show an increased cell count with a predominance of neut
rophils, increased protein, and decreased glucose Gram stain will show bacteria.
. Suspect meningococcemia in a neonate with signs of meningitis and a petechial
rash.
. 75% of patients with Meningococcus meningitis present with a petechial rash t
hat is prominent on the axilla, wrists, flanks and ankles.
. It appears within 24 hours of the infection, and the patient generally appear
s sick.
. Even though pneumococcus is the most common organism responsible for meningit
is, it does not cause a rash.
. In an infant with meningococcemia, watch out for Waterhouse-Friderichsen synd
rome, which is
. characterized by a sudden vasomotor collapse and skin rash (large purpuric le
sions on the flanks) due to adrenal hemorrhage Fulminant meningococcemia can occ
ur
after a meningococcus infection, and approximately 10-20% of infants present
with vasomotor collapse, large petechiae and purpuric lesions.
. The condition carries an almost 100% mortality.
. Lumbar puncture (LP) is the key to establishing the diagnosis of meningitis a
nd differentiating between viral and bacterial causes.
. The first steps in management: supportive care with oxygen and fluids, a CBC,
and blood cultures.
. In contrast to suspected meningitis in adults, in whom antibiotics are follow
ed by (CT) scan and LP, children should first have an LP and then antibiotics.
. An LP is quick and easy to obtain in most children, even if they are agitated
.
. Herniation is less likely in infants aged <1 year because the fontanelles hav
e not fully closed.
. This patient should have an LP followed by administration of vancomycin (give
n the high incidence of resistant S. pneumoniae) and a third-generation cephalos
porin
. If the LP is unsuccessful or cannot be performed, then antibiotics should be
given and the LP obtained as soon as possible.
. Although antibiotics given before LP can affect the yield of (CSF) Gram stain
and culture, pathogens other than meningococcus can usually be
identified in the CSF up to several hours after the administration of antibio
tics.
. Blood cultures must be obtained prior to the antibiotics.
. Many experts recommend dexamethasone for all children aged >6 weeks with pneu
mococcal meningitis and for those with Haemophilus influenza type b meningitis
(if given within 1 hour of initial antibiotic therapy) to reduce the incidence
of hearing loss with bacterial meningitis.
. N.B.:
- CSF in tuberculous meningitis also shows a mildly elevated white cell count w
ith lymphocyte predominance; the protein will be very high and glucose will be l
ow.
However, the presentation tends to be subacute rather than acute.
- The long-term neurologic sequelae associated with bacterial meningitis are:
1. hearing loss
2. loss of cognitive functions (due to the neuronal loss in the dentate gyrus
of the hippocampus)
3. seizures
4. mental retardation
5. spasticity or paresis
. TORCHs infections:
___________________
. Toxoplasmosis, rubella, CMV, HSV and syphilis.
. cause a syndrome characterized by microcephaly, hepatosplenomegaly, deafness,
chorioretinitis, and thrombocytopenia.
. Standard prenatal care for high risk women (immegrants) in USA includes:
screening for infection with syphilis, chlamydia, gonorrhea, and HIV, as well
as rubella and hepatitis B immunity.
. N.B.:
1- Folic acid supplementation prior to conception is important to prevent neur
al tube defects such as spina bifida and anencephaly.
2- Zidovudine treatment early in pregnancy in women with confirmed HIV infecti
on can reduce the risk of vertical transmission of HIV to the fetus.
Also Caesarian delivery also reduces vertical transmission.
3- Malaria during pregnancy, causeS maternal anemia, also increases the risks
of fetal loss and IUGR. Microcephaly is not associated with malaria during pregn
ancy.
4- Smoking during pregnancy carries a risk of intrauterine growth retardation,
as well as neurologic and developmental defects. Microcephaly is not a feature.
. Congenital syphilis:
______________________
. Presents early on with hepatosplenomegaly, cutaneous lesions, jaundice, anemi
a, and rhinorrhea.
. Metaphyseal dystrophy and periostitis may be seen on radiography.
. Late manifestations: frontal bossing, high arched palate, Hutchinson teeth, i
nterstitial keratitis, saddle nose, and perioral fissures.
. These late manifestations can be prevented with early treatment of the infant
. Serologic testing: initial screening (VDRL), rapid plasma reagin (RPR), (EIA)
; confirmatory testing is with treponemal tests as the (FTA-ABS) or (TPPA).
. Parenteral penicillin G is the treatment of choice for syphilis.
. Congenital toxoplasmosis:
___________________________
. Remember the classic triad of congenital toxoplasmosis: chorioretinitis, hydr
ocephalus, and intracranial calcifications.
. Microphthalmia, microcephaly, hepatomegaly, diffuse lymphadenopathy, jaundice
and diffuse petechiae may be seen.
. Mumps:
________
. Parotitis secondary to mumps.
. Orchitis is one of the most frequent complications of mumps, developing in ab
out 20% of cases.
. It is most common in postpubertal young men, ages 15-29. Because less than 15
% of orchitis cases of are bilateral, infertility is a rare complication.
. Treatment for mumps is supportive, with application of cold compresses to the
parotid area or testes.
. Other common complications of mumps are aseptic meningitis and encephalitis.
. Eczema herpeticum:
____________________
. is a form of primary herpes simplex virus infection that is usually superimpo
sed on healing atopic dermatitis lesions after exposure to herpes simplex virus.
. Numerous umbilicated vesicles over the area of healing atopic dermatitis are
typical.
. It is frequently accompanied with fever and adenopathy.
. In infants, the infection may be life-threatening, and acyclovir treatment sh
ould be initiated as soon as possible.
. Erythema toxicum:
___________________
. The healthy appearance of the neonate, the evanescent nature of the rash, and
the distinctive red halo surrounding the lesions support the diagnosis of eryth
ema toxicum.
. The presence of numerous eosinophils in the pustules is diagnostic.
. Erythema toxicum is a benign, self-limited condition usually found in newborn
s after the first 2 days of birth.
. Treatment is not necessary.
.N.B.:
- Milia are small pearly white cysts, and are distinct from the rash of erythem
a toxicum.
- Sebaceous hyperplasia presents as little yellowish papules and are commonly f
ound on the face.
- Vaccination against hepatitis B decreases the incidence of hepatocellular car
cinoma, especially,
in regions with high levels of hepatitis B infection such as Asia (china) and
Africa.
- The vaccination schedule for preterm infants should be conformed to the child
's chronologic age, not the gestational age.
- Because prematurity does not markedly change the immune response to vaccines,
and the risk of infection and complications in preterm infants is greater than
term.
- The exception is that children should be 2 kg prior to receiving the first he
patitis B vaccine (which is at birth).
- Small for gestational age infants have a weight under the 10th percentile for
gestational age at birth
- May have complications such as hypoxia, polycythemia, hypoglycemia, hypotherm
ia, and hypocalcemia.
.N.B.:
- Albendazole or mebendazole is the first-line treatment for Enterobius vermicu
Laris infection, Pyrantel pamoate is an alternative.
- Urinalysis is a preliminary investigation that should be performed first in a
ll patients with suspected renal disease.
- All children with recurrent episodes of nocturnal vulvar itching should be ex
amined for pinworms and treated empirically with mebendazole.
- Female infants less than 3 months of age sometimes develop vaginal spotting,
discharge or bleeding.
Due to maternal estrogens crossing the placenta to the fetal blood before bir
th, causing a pubertal effect in the newborn,
which disappears as soon as the hormone is cleared from the infant's circulat
ion, so treatment is reassurance of the mother.
. Lyme disease:
_______________
. The causative agent is the spirochete Borrelia burgdorferi, which is transmit
ted to humans by the bite of an infected tick of the Ixodes species.
. The first clinical manifestation is the typical annular rash, named erythema
migrans, at the site of the bite.
. The rash may be uniformly erythematous, or it may appear as a target lesion w
ith central clearing.
. Erythema migrans may be associated with systemic features: fever, myalgia, he
adache or malaise.
. Individuals who are exposed to tick-infested areas should wear light-colored
clothing so that ticks can be spotted more easily and removed before getting att
ached.
. Wearing long-sleeved shirts and tucking pants into socks or boot tops can hel
p keep ticks from reaching the skin.
. Applying insect repellents containing DEET to clothes and exposed skin, and a
pplying permethrin to clothes, which kills ticks on contact, also reduce the ris
k of tick attachment
. Tinea corporis:
_________________
. Is a superficial fungal infection mostly seen in hot, humid climates.
. The lesions are pruritic, erythematous, scaly, and have a red ring with centr
al clearing.
. Exposure to infected animals, people, and public places are major risk factor
s.
. Tinea corporis is most common in preadolescents.
. It is diagnosed clinically or with a skin scraping and potassium hydroxide ex
amination.
. Topical antifungals ( Terbinafine) are the preferred therapy.

. Reye syndrome:
________________
. also known as fatty liver with encephalopathy.
. A rare illness seen exclusively in children less than 15 years old who were t
reated with salicylates for a viral infection.
. Pathophysiology Reye syndrome is characterized by diffuse mitochondrial injur
y that leads to;
. Present with: vomiting, agitation, and irrational behavior, progressing to le
thargy, stupor, and restlessness, convulsions may occur.
. The liver is enlarged but there is no icterus.
. Laboratory findings: hyperammonemia, normal or slightly elevated bilirubin an
d alkaline phosphatase, prolonged prothrombin time, hypoglycemia,
and moderate to severe elevations in AST, ALT, and lactate dehydrogenase leve
ls.
. Histologically, extensive fatty vacuolization of the liver without inflammati
on is presen
. Biopsy of the liver, kidneys and brain reveals microvesicular steatosis.
. Treatment is supportive
. Aspirin is therefore generally contraindicated in children, except in the tre
atment of Kawasaki disease.
.N.B:
- Newborns of mothers with active hepatitis B infection should be passively im
munized at birth with hepatitis B immune globulin (HBIG) followed by
active immunization with recombinant HBV vaccine.
. Infant botulism:
__________________
. C. botulinum is the most common etiologic agent and is usually transmitted th
rough food, especially honey, which is the carrier in 1/3 of cases.
. In infantile form of botulism, the causative organism gains entry through the
food and produces toxin in the GIT, which subsequently triggers the symptoms.
. It is a protease that blocks acetylcholine release.
. Infants typically present between 2 weeks and 9 months with constipation and
poor feeding.
. This is followed by progressive hypotonia, weakness, loss of deep tendon refl
exes, cranial nerve abnormalities (impaired gag reflex), and respiratory difficu
lties.
. Signs of autonomic dysfunction such as hypotension and neurogenic bladder can
occur early in the course of the disease.
. Staphylococcal scalded skin syndrome (SSSS):
______________________________________________
. is caused by exfoliative toxin-producing strains of S. aureus.
. It starts with a prodrome of fever, irritability, and skin tenderness, which
is followed by generalized erythema and superficial flaccid blisters.
. A positive Nikolsky sign (gentle lateral pressure on the skin surface adjacen
t to a blister causes slipping and detachment of a superficial layer of skin).
. Scaling and desquamation follow, before resolution of the disease process SSS
S usually affects children below age 10.
. but adults with kidney disease or immune compromise may also be affected.
. Cultures from intact bullae are usually sterile, because this is a toxin-medi
ated process.
. The goal of treatment is to eliminate any focus of infection with appropriate
anti-staphylococcal antibiotics & provide supportive wound care of all denuded
areas.
================================================================ Growth and deve
lopment===========================================================
. Rehydration after diarrhia:
_____________________________
. Adequate hydration is very important in the management of diarrhea, replaceme
nt of electrolytes is also essential to prevent complications
such as water intoxication and hyponatremia.
. Water intoxication, hyponatremia, and seizures may result if diarrhea is trea
ted with large amounts of hypotonic or low-solute fluids (e g , water).
. Mild to moderated dehydration secondary to acute diarrhea --> Oral rehydratio
n therapy with Oral Rehydration Solution (ORS).
. Severe dehydration requires hospitalization and IV therapy.
. A healthy full term baby weight:
__________________________________
. Healthy, full term, and appropriate for gestational age infants may lose up t
o 10% of their birth weight in the first week of life.
. The fetus exists in a state of relative total body water and extracellular fl
uid excess.
. After birth, excretion of this excess water accounts for the majority of the
weight loss.
. The birth weight should be regained by 10 days of life.
. Signs of Neonate/Infant Dehydration:
---------------------------------------
- Dry oral mucosa, lips, and tongue.
- Decreased number of wet diapers.
- No tears present when crying.
- Delayed capillary refill time (>2 seconds).
- Decreased skin turgor.
Managment of dehydration:
-------------------------
. The initial step in managing children with dehydration is to determine its se
verity.
. The ideal method of assessing dehydration is to determine the measured change
in weight because 1 kg of acute weight loss equals 1 L of fluid loss.
. A child's weight, however, changes constantly, making it difficult to obtain
an accurate recent "well" weight.
. So, the degree of dehydration often has to be determined by the clinical hist
ory and physical examination & can be divided into:
1. Mild dehydration: presents with a history of decreased intake or increased f
luid loss with minimal or no clinical symptoms.
2. Moderate dehydration; decreased skin turgor, dry mucus membranes, tachycardi
a, irritability, a delayed capillary refill (2-3 seconds),& decreased urine outp
ut.
3. Severe dehydration: cool, clammy skin, a delayed capillary refill (>3 second
s), cracked lips, dry mucous membranes, sunken eyes, sunken fontanelle (if still
present),
tachycardia, lethargy, and minimal or no urine output, Patients can present
with hypotension and signs of shock when severely dehydrated.
- Oral rehydration therapy should be the initial treatment in children with mil
d to moderate dehydration.
- Children with moderate to severe dehydration should be immediately resuscitat
ed with intravenous fluids to restore perfusion and prevent end organ damage.
- Isotonic crystalloid is the only crystalloid solution recommended for intrave
nous fluid resuscitation in children.
. Rehydration:
______________
. The signs and symptoms of hypernatremia are mainly neurologic and include let
hargy, altered mental status, irritability, and seizures.
. Hypernatremia can also cause muscle cramps, muscle weakness, and decreased de
ep tendon reflexes.
. Hypovolemic hypernatremia develops secondary to renal losses (eg, diuretic us
e, glycosuria) or extrarenal losses (eg, gastrointestinal upset, excessive sweat
ing).
. Hypervolemic hypernatremia occurs due to exogenous sodium intake or mineraloc
orticoid excess (eg, hyperaldosteronism).
. When treating a patient with hypernatremia, the sodium must be slowly returne
d to normal.
. In caseof hypernatremia and dehydration, the initial goal is to stabilize the
infant with fluid resuscitation as needed.
. When giving intravenous fluid boluses, only isotonic solutions such as normal
saline or lactated Ringer's should be used.
.N.B:
- Half normal saline (45%) and 5% dextrose are hypotonic solutions, they should
never be used for initial resuscitation.
. because they quickly exit the intravascular system and lower the sodium too r
apidly Precipitating drop in sodium levels can cause cerebral edema.
- Multiple studies have demonstrated that the expensive colloid solutions are n
o better than crystalloids at fluid resuscitation.
. Developemental processes:
___________________________
- Age: 12 months:
----------------
. Fine Motor: Tow finger pincer grasp & turns several pages of a book at a time
.
. Gross Motor: Walks without assistance & - Waves bye & Climbs up on furniture.
. Language: Says 2-3 words & - Says "mama" and "dada" games (can identify each
parent).
. Social: Imitates actions & - Plays reciprocal games (peek-a-boo) & indicates
wants.
- Age: 2 year:
--------------
. Fine Motor: Builds a twer of 6 cubes.
. Gross Motor: Walks up & down stairs
. Language: 200 word vocabulary & uses 2-word phrases
. Social: Follow 2 step commands.
- Age: 3 years:
----------------
. Fine Motor: Copies a circle uses utenisles to feed self & stacks 9 blocks.
. Gross Motor: climbs stairs with alternating feet, rides a tricycle & kicks a
ball.
. Language: uses 3 word sentences, stats first name & 3/4 (75%) of speech is in
telligible.
. Social: wash/dry hands, helps with simple household tasks & group play.
- Age: 4 years:
----------------
. Fine Motor: Copies a cross, draw a person, begins to use scissors & holds a c
rayon with a tripod grasp.
. Gross Motor: Hops on one foot with out losing balance & jumps over objects.
. Language: Counts to 10, tells stories & use lurals and prepositions.
. Social: Cooperative play, has imaginary friends & imitate adults role.
---------------------------------
. Language development:
-----------------------
- Social smile 2 months
- Babbles 6 months
- 2 words, obeys 1-step command 1 year
- 2-3 word phrases, obeys 2-step command 2 years
. Gross motor development:
--------------------------
- Holds head 3 months
- Rolls back to front and front to back 4 months
- Sits well unsupported 6 months
- Walks alone 12 months
- Walks up and down stairs without help 24 months
. Fine motor development:
-------------------------
- Raking grasp 6 months
- Throws object 12 months
- Builds tower of 2 blocks 15 months
- Builds tower of 6 blocks/turn pages of books 24 months
. Social development:
---------------------
- Recognizes parents 2 months
- Recognizes strangers (stranger anxiety) 6 months
- Imitates action/comes when called 12 months
- Plays with other children 18 months
- Parallel play 24 months
N.B:
- Developmentally, a 12 month old should be able to walk holding onto a hand or
object. He should have a neat pincer grasp that allows him to grab small object
s.
- Language development at 1 year old consists of mama and dada said specificall
y to his parents, and at least one other word.
- Socially, a 12 month old can roll a ball and makes postural adjustments when
being dressed
. Toilet training:
__________________
. usually occurs between the ages of 2-4 years old.
. Parents should be counseled that several milestones must be met by the child
to become potty trained.
. Children must be aware of bladder filling, be able to consciously tighten the
external sphincter, have normal bladder growth, and be motivated to stay dry.
. They must also have met motor milestones to be able to walk to the toilet, si
t upright on the toilet, and the language to indicate the need to use the bathro
om.
. The child will demonstrate readiness to begin toilet training when they commu
nicate the need to urinate or defecate prior to passing urine or stool,
and when they can withhold the urine or stool for a brief period of time.
. When a child is ready, toilet training consists of placing the child on the t
oilet at regular times and using positive reinfo rcement as a reward.
. Girls are usually toilet trained faster than boys, but 90-95% of children wil
l achieve daytime continence by 5 years old.
. When a child is not ready for toilet training, forcing him to sit on the toil
et will make him more reluctant and can make potty training very difficult.
. The best step in the management of a reluctant child is to stop toilet traini
ng for several months and allow the child to become interested on his own.
. Vitamin D deficiency rickets:
_______________________________
. This condition usually presents after several months of being Vitamin D-defic
ient.
. The typical pathology is - defective mineralization of growing bone or osteoi
d tissue
. The typical patients are low-birth weight infants, unsupplemented dark-skinne
d infants, infants with inadequate sun exposure, and solely breastfed infants.
. Early manifestations: craniotabes (ping-pong ball sensation over the occiput
or posterior parietal bones), rachitic rosary, and thickening of the wrists and
ankles.
. Other findings: Harrison groove and a large anterior fontanelle.
. Diagnosis is confirmed by obtaining the serum calcifediol level (decreased),
alkaline phosphatase level (increased), and
observing the characteristic radiologic changes(cupping and fraying of the di
stal ends of long bones, and double contour along the lateral outline of the rad
ius).
. Treatment includes oral Vitamin D administration and adequate sunlight (or ar
tificial light) exposure.
. The current recommendation to prevent rickets is oral Vitamin D supplementati
on, beginning during the first 2 months of life and continuing until early adole
scence.
. Sexual developement:
______________________
. Normal sexual behaviors for young children (ages 2-5) include:
. Talking about genitals or reproduction, occasional masturbation, enjoying bei
ng naked, and curiosity about their own and other people's body parts.
. They may play "doctor" with each other or compare their bodies with other chi
ldren's bodies.
. In addition, transient cross-dressing is often common in preschool boys.
. Extensive sexual knowledge as well as simulating foreplay or intercourse are
concerning behaviors in a young child and could be indicators of sexual abuse.
. Conduct disorder:
___________________
. Characterized by disruptive behavioral patterns that violate basic social nor
ms for at least one year in patients less than 18 years old.
. It includes aggressive behavior towards others or animals, behaviors resultin
g in property damage, theft, or violations of societal rules.
. Constitutional growth delay:
_______________________________
. Constitutional growth delay is the most common cause of short stature and pub
ertal delay in adolescents.
. Affected individuals have a normal birth weight and height, but between 6 mon
ths to 3 years of age, the height growth velocity slows, and they drops percenti
les on their growth curve.
. Around 3 years of age, the child regains a normal growth velocity and follows
the growth curve at the 5th to 10th percentile.
. Puberty and the adolescent growth spurt are delayed, but eventually occur.
. The child will have a normal growth spurt and reach a normal adult height.
. Bone age radiographs show a bone age that is delayed compared to the chronolo
gical age.
. Separation anxiety:
_____________________
. Separation anxiety is a normal behavior in young children between 9-18 months
.
. usually manifests when parents leave the child or at night when the child is
put to bed.
. The child responds by crying, clinging to the parent, and becoming upset Sepa
ration anxiety usually lasts 2-4 months and gradually resolves as the child begi
ns to
understand that his parents will return.
.The initial step in the management of children with speech delay is an audiolo
gy evaluation especially when there is history of recurrent otitis media.
===================================================================== Miscellane
ous ==============================================
. Autism:
_________
. patient is usually less than 3 years old and presents with impairment in soci
al interactions and communication, delayed language development,
repetitive activities, and stereotypical behaviors.
. Treatment include special education and behavioral modification techniques, N
o pharmacological agent has been found to be useful in autism.
. Asperger syndrome:
____________________
. These kids are usually more socially aware and communicative. Although patien
ts may have features of stereotypical movements and
self-injurious behavior, their language development is normal.
. Attention-deficit hyperactivity disorder (ADHD):
__________________________________________________
. Children with ADHD have poor impulse control, inattentiveness, and motor over
activity.
. Multiple factors contribute to development of ADHD: genetics, pregnancy or bi
rth complications, maternal drug use, abnormal brain development or traumatic br
ain injury,
and psychological stressors.
. There are three subtypes of ADHD - predominantly inattentive, predominantly h
yperactive-impulsive, or combined.
. To meet the diagnostic criteria for ADHD, a child must exhibit six or more sy
mptoms of inattention or hyperactivity- impulsivity before age 7 years, with the
symptoms present for at least 6 months.
. The symptoms must cause significant impairment in functioning and must occur
in at least two different settings
. Many children with ADHD have a family history of ADHD. However, this is not n
ecessary for the diagnosis.
. Educational testing may be appropriate, as many children with ADHD have coexi
stent learning disabilities however.
. Teacher evaluations must be obtained first to establish the diagnosis of ADHD
.
. Children with ADHD can have sleep problems, which should be addressed if the
diagnosis of ADHD is confirmed by teacher evaluations.
Inattention Symptoms
Hyperactivity-lmpulsivity Symptoms
No attention to detail;makes careless mistakes.
Interrupts others when they are speaking.

Cannot pay attention while completing tasks or while
Has a problem waiting their turn.
playing (e.g while playing a board game).
Answers question before the person finishes the entire question.
Does not appear to listen when spoken to.
Talks constantly.
Does not follow instructions with regard to school work chores etc.
Physically active all the time.
Has a hard time organizing tasks ,including fun tasks.
Cannot perform activities quietly.
Tries to avoid situations where concentration is required (e g , school,homework
). Runs or climbs inappropriately.
Easily distracted.
Cannot stay in seat.
Loses objects needed to perform tasks (e.g., books, writing utensils, etc ).
Fidgets.
Forgetful.

. Undetected hearing impairment: can easily be confused with
________________________________
1- Attention deficit hyperactivity disorder (ADHD): However,
. poor language development and social isolation are not features of ADHD, and
a hearing impairment should be ruled out before a diagnosis of ADHD is considere
d.
2- Autism: However,
. Repetitive behaviors, poor eye contact, and impaired social interactions are
not seen in hearing impairment.
. In addition, features of autism generally appear before age three and social
isolation is more prominent than in hearing impairment.
. Management of a child who has accidentally taken liquid alkali:
----------------------------------------------------------------
. The initial management is directed towards maintaining airway patency, The ab
sence of any added breath sounds and
presence of air movement bilaterally in this patient ensures patent airways.
. Next step, upper GI endoscopy is recommended in the first 24hrs to assess the
extent of the injury and to dictate further management.
. Barium swallow is not recommended due to the associated difficulty in determi
ning the extent of the injury with this procedure.
. Steroids are not recommended because these may increase the chance of perfora
tion Furthermore, giving steroids have not been proven to provide ,any benefit
in preventing strictures in such cases.
. Nasogastric lavage and oral antidotes such as vinegar are not recommended sin
ce these may increase the extent of injury.
. Remember attempting to neutralize the alkali with vinegar or lavage is danger
ous!
. Photo-protection in high risk group: (high yield)
______________________________________
. Sun exposure is associated with skin photo-aging and several types of skin ca
ncer, including melanoma.
. Encouraging photo-protection is the leading preventive measure in skin care,
and sun avoidance is the best method of photo-protection.
. Patients are instructed to avoid outdoor activities in the middle of the day
(between 10 am and 4 pm), which is the period of peak sun radiation intensity.
. Sunscreens are useful adjuncts to photo-protection, but offer insufficient pr
otection from ultraviolet radiation (UVR) when used alone.
. Overdependence on sunscreens may sometimes even increase or encourage outdoor
exposure Sunscreens should be applied 15-60 min
prior to sun exposure to allow enough time for protective film development.
. Currently, the available data shows little to no protection against melanoma
with the use of sunscreen lotions with SPF 15 - 30;
however, these can protect from non-melanoma skin cancers such as squamous ce
ll carcinoma.
. Resting under umbrellas decreases UVR exposure by 70%, but does not affect re
flected radiation.
. Shade from trees provides insufficient UVR protection .
. Clothing is considered to be an effective tool for sun protection; however, i
t does not supercede sun avoidance.
. Iron poisoning:
________________
. The patient's symptoms and history of spilled multivitamin pills are highly s
uggestive of iron poisoning.
. This is one of the most common causes of death by poisoning Elemental iron, w
hen ingested in large amounts, has a corrosive effect on the GI mucosa,
leading to abdominal pain, nausea, vomiting, diarrhea and hematemesis.
. Iron also accumulates in the mitochondria and tissue, thus impairing energy p
roduction and resulting in cellular damage and systemic toxicity.
. Hypotension then occurs due to the increased capillary permeability and venod
ilation.
. The resulting peripheral hypoperfusion and mitochondrial damage lead to accum
ulation of lactic and citric acid, and consequent metabolic acidosis.
. Other complications include liver necrosis, coagulopathy, drowsiness, seizure
s and coma. Long-term sequelae include gastric scarring and pyloric stenosis.
. Since iron is radio-opaque, the tablets can be seen in the stomach on abdomin
al x-ray.
. The diagnosis is confirmed by measuring serum iron levels.
. The treatment depends on the severity of the poisoning: Ipecac syrup to induc
e emesis is used in asymptomatic patients with an intact gag reflex.
. Intravenous deferoxamine, an iron chelator, is used in moderate to severe cas
es of intoxication.
. Activated charcoal is not effective, and gastric lavage is not recommended in
young children.
. Acute iron intoxicTION:
_________________________
. Is usually the result of a suicide attempt especially if symptoms of depressi
on (isolative behavior, decreased appetite, poor sleep) are present.
. Acute iron intoxication has five phases:
1- GIT phase --> 30 minutes to six hours after ingestion & is due to direct mu
cosal damage, patient experience nausea, vomiting, hematemesis, melena, and abd.
pain.
2- Latent phase --> 6 to 24 hours after ingestion, and is largely asymptomatic
.
3- Shock and metabolic --> acidosis may occur 6 to 72 hours following the inge
stion.
4- Hepatotoxicity --> 12 to 96 hours.
5- Bowel obstruction --> secondary to mucosal scarring can develop several wee
ks post-ingestion
. The diagnosis of acute iron intoxication is made by checking the serum iron c
oncentration.
. Levels > 350 mcg/dL are consistent with toxicity.
. Treatment of iron poisoning involves deferoxamine, which binds ferric iron, a
llowing urinary excretion.
.N.B: Common poisonings:
------------------------
1- There are no known cases of riboflavin (vitamin 82) poisoning.
2- Acute ingestion of vitamin A causes anorexia, bulging fontanelre (pseudotumo
r cerebri), hyperirritability and vomiting.
3- Acute vitamin D ingestion causes anorexia, nausea, vomiting, diarrhea, heada
che, polyuria and polydipsia.
4- Vitamin K may cause hyperbilirubinemia in premature infants.
5- Acute lead poisoning presents as vomiting, ataxia, colicky abdominal pain, i
rritability, seizures, encephalopathy and cerebral edema.
6- Dimercaprol is the antidote for lead poisoning, as well as poisoning from ot
her heavy metals (e g , gold, arsenic, mercury).
7- Aspirin poisoning is characterized by lethargy, fever, hyperpnea, vomiting,
tinnitus and metabolic acidosis, abdominal radiographs are usually unremarkable.
. Lead poisoning:
_________________
. Risk for lead poisoning: live in an old house, especially if there is peeling
paint or during renovation projects.
. Other risk factors: lead pipes, living near a battery recycling plant, having
a parent who works with batteries or pottery, or having a playmate or sibling
with a history of lead poisoning.
. Capillary blood specimens (using a fingerstick) are widely used in childhood
screening for lead poisoning.
. Since false positive results are common, the first step after an abnormal fin
gerstick lead level is to confirm the diagnosis with a serum (venous blood) lead
level.
. If the serum lead level is >10 ?g/dL, then intervention is needed.
. Removing the child from the house would be the most important step in reducin
g exposure if the diagnosis of lead poisoning is confirmed.
. Chelation therapy with either dimercaprol or dimercaptosuccinic acid (DMSA, s
uccimer) is typically used when lead levels are extremely elevated (>45 ?g/dL).
. Rechecking the lead level in one month is appropriate for children with mildl
y elevated lead levels (<20 ?g/dL) after
a thorough history is taken and counseling is done about removing the child f
rom any potential lead exposure.
. Vaccination adverse reactions: Extremely high yield question for the USMLE!!!
_______________________________
. The adverse reactions to the DTaP vaccine are usually attributed to the pertu
ssis component of the vaccine.
. Mild reactions consist of local redness and swelling, irritability , and feve
r < 105F (40 6C).
. Less common reactions include inconsolable crying for > 3 hours and a tempera
ture of > 105F (40 6C).
. An immediate anaphylactic reaction, an encephalopathy, or any CNS complicatio
n within 7 days of administration of the vaccine is a contraindication for furth
er
administration of DTaP.
. In these instances, DT should be substituted for DTaP since the adverse react
ions are usually attributed to the pertussis component of the vaccine.
. varicella vaccine:
____________________
. Guidelines recommend active immunization with varicella vaccine for healthy a
dults & children exposed to varicella, ideally within the first 3- 5 days of exp
osure.
. because efficacy is decreased beyond this period.
. Because this is a live virus, the vaccine is only recommended for immunocompe
tent individuals.
. Postexposure prophylaxis with varicella-zoster immune globulin product is ind
icated in susceptible high-risk persons (lmmunocompromised patients, pregnant wo
men)
exposed to varicella within 96 hours (preferably 72 hours) of exposure, it do
es not prevent infection but effectively reduces disease severity.
. administration of any of these vaccines after these periods it will ineffecti
ve.
. Cat bites:
_____________
. Are of significant concern because these often result in deep puncture wounds
, also infection of such wounds with Pasteurella muftocida tends to develop quic
kly.
. And is associated with considerable pain, erythema, and swelling Localized ce
llulitis can develop subacutely.
. In some cases, systemic effects (e g , fever and lymphadenopathy) may arise.
. Prophylactic treatment is thus recommended for such cases. For treatment of m
inor cat bite wounds, amoxicillin/clavulanate for five days is recommended.
. Anabolic steroids:
____________________
. Are used to improve physique and athletic performance.
. Adverse effects, including acne, baldness, gynecomastia, hepatic dysfunction,
altered lipid profiles, virilization, testicular failure, and mood and behavior
changes.
. Informed consent:
___________________
. When planning to perform a procedure on a patient, informed consent must be o
btained.
. It should include an explanation of the following: the suspected diagnosis, t
he type of procedure or treatment planned,
the risks and possible complications of the procedure, and the alternative tr
eatments available.
. When a procedure needs to be performed on a minor, the minor's parent must pr
ovide informed consent.
. If the parent is a minor as well, which causes a dilemma because minors (<18
years old) are generally considered to be incapable of providing consent However
,
most states have exceptions to this rule that allow the following groups of m
inors to provide consent:
military personnel, those who are married, pregnant minors, or those who are
a parent, among others.
. In these instances, minors are considered free from their parents.
. Fetal alcohol syndrome:
_________________________
. which is caused by moderate or excessive maternal alcohol intake during pregn
ancy.
. It affects fetal growth and morphogenesis, resulting in midfacial abnormaliti
es (short palpebral fissures, epicanthal folds, long philtrum, thin upper lip bo
rder),
. cardiac defects (atrial or ventricular septal defect, persistence of arterial
canal), multiple joint anomalies, prematurity, growth retardation & mental reta
rdation.
. It is sometimes clinically difficult to differentiate it from Down's syndrome
(trisomy 21 ) since similarities include facial dysmorphism and heart malformat
ions;
however, the normal karyotype in this case rules out the latter.
. Fetal alcohol syndrome is the most common cause of mental retardation in chil
dren.
. Withdrawal symptoms are usually not seen unless the mother was drinking just
prior to delivery.
. Neonatal abstinence syndrome (NAS):
____________________________________
. The opiates that infants are most commonly exposed to are heroin and methadon
e.
. Methadone is prescribed for pregnant women who are addicted to heroin to prev
ent uncontrolled withdrawal in the fetus.
. Heroin and methadone are not associated with dysmorphic features or congenita
l anomalies in the fetus, but
prenatal exposure can lead to increased risk of intrauterine growth retardati
on, macrocephaly, sudden infant death syndrome, and neonatal abstinence syndrome
(NAS).
. NAS: presents in the 1st few days of life & characterized by irritability, a
high-pitched cry, poor sleeping, tremors, seizures,
sweating, sneezing, tachypnea, poor feeding, vomiting,and diarrhea.
. Withdrawal usually presents within 48 hours after birth for heroin withdrawal
and between 48 and 72 hours for methadone.
. The treatment for NAS: symptomatic care to calm the infant & help the infant
sleep, such as swaddling, providing small frequent feeds, &
keeping the infant in a low stimulation environment.
. Pharmacologic treatment used when supportive treatment does not control it; M
orphine can be administered & systematically weaned to help control opiate withd
rawal.
.N.B.:
- Prenatal exposure to cocaine can result in jitteriness, excessive sucking, an
d a hyperactive Moro reflex.
- Withdrawal symptoms are usually not as severe as with opiates; Long-term effe
cts on behavior, attention level, and intelligence may be seen.
. Serum sickness-like reaction:
_______________________________
. It most commonly occurs in young children following the treatment of viral in
fections with antibiotic.
. May occur 1-2 weeks after administration of certain drugs, such as penicillin
, amoxicillin or cefaclor in the setting of a viral illness.
. Prominent symptoms: fever, urticaria! rash, polyarthralgia and lymphadenopath
y.
. It derives its name from its similarities to true serum sickness, an immune-c
omplex mediated hypersensitivity reaction to non-human proteins.
. Serum-sickness like reaction is a clinical diagnosis, and should resolve with
withdrawal of the offending agent; it does not represent a true drug allergy.
. Deficiency of niacin (vitamin B3):
____________________________________
. leads to pellagra, which is characterized by diarrhea, dermatitis, dementia,
and if severe, death.
. Pellagra is common in 3rd world countries where the main diet consists of cer
eal or corn, but can be seen in people with bowel disease that interferes with v
itamin absorption.
. Present with GIT complaints (nausea, abdominal pain, or epigastric discomfort
) along with glossitis and watery diarrhea.
. Dermatitis seen in pellagra occurs in sun exposed areas and resembles a sunbu
rn; it is also typically bilateral and symmetric.
. As the rash progresses, the skin becomes hyperpigmented and thickened.
. Mental status changes can range from poor concentration to irritability, aggr
essiveness, and dementia.
. Death can occur in severe niacin deficiency if untreated.
. Treatment of pellagra is niacin replacement.
.N.B:
-----
1- Deficiency of thiamine (vitamin B1 ) causes beriberi or Wernicke-Korsakoff s
yndrome
- These conditions are characterized by neurologic and psychiatric symptoms, a
nd are often seen in alcoholics or patients who have had weight loss surgery.
2- Deficiency of riboflavin (vitamin B2) can lead to cheilosis, glossitis, sebo
rrheic dermatitis (often affecting the genital areas), pharyngitis, and
edema and/or erythema of the mouth (Pure riboflavin deficiency is has been d
ocumented in regions of the world with severe food shortages).
3- Pyridoxine (vitamin B6) deficiency causes irritability, depression, dermatit
is, and stomatitis.
- It can also cause an elevated serum homocysteine concentration, which is a k
nown risk factor for venous thromboembolic disease and atherosclerosis.
4- Deficiency of cyanocobalamin (vitamin 812) causes macrocytic anemia and peri
pheral neuropathy.
. Vitamin A deficiency:
________________________________
. Suspect vitamin A deficiency in a 2 or 3-year-old child with impaired adaptat
ion to darkness, photophobia, dry scaly skin, xerosis conjunctiva,
xerosis cornea, keratomalacia, Bitot spots and follicular hyperkeratosis of th
e shoulders, buttocks, and extensor surfaces
. Sudden infant death syndrome (SIDS):
______________________________________
. is the leading cause of mortality in infants aged between 1 month and 1 year
in the United States.
. It is defined as the sudden, unexpected death of an infant that cannot be exp
lained by the history and a thorough post-mortem examination.
. It is recommended that infants be placed in a supine position while sleeping
to reduce the risk of SIDS.
. Anaphylaxis:
______________
. is an acute, life-threatening, lgE-mediated type I hypersensitivity reaction.
. The most common inciting agents for anaphylaxis are insect envenomation, drug
s and foods.
. Food allergies are the major cause of pediatric outpatient anaphylaxis, and p
eanut allergies account for the majority of fatal and near fatal reactions.
. Signs include bronchoconstriction, hypotension and urticaria.
. Intramuscular injection of epinephrine is the first-line treatment for anaphy
laxis in a patient with a patent airway.
. The most effective and potentially life-saving intervention in a patient with
known anaphylaxis is
prescription of self-administrable epinephrine for use upon reexposure to the
inciting allergen.

. Risperidone:
______________
. Is an atypical antipsychotic commonly used to treat schizophrenia and bipolar
disorder.
. It is a dopamine & serotonin antagonist.
. It inhibits dopamine, which leads to elevated serum prolactin levels.
. The hyperprolactinemia causes: oligomenorrhea, amenorrhea, and galactorrhea,
in premenopausal females.
. The resultant side effects can include the breast tenderness, amenorrhea, and
galactorrhea.
. Risperidone has been found to increase prolactin levels to a greater extent t
han do many of the other antipsychotics.

. Cradle cap, or seborrheic dermatitis:
________________________________________
. is a common pediatric skin condition.
. This papular, scaly rash tends to affect the eyebrows, nasolabial folds, and
scalp.
. Treatment: moisturizers, antifungals, and topical steroids.
. Atopic dermatitis:
____________________
. In infancy presents with pruritus and skin lesions typically distributed symm
etrically over the face, scalp, chest and extensor surfaces of the extremities.
. The diaper region is typically spared.
. Patients with exfoliative dermatitis (erythroderma):
_______________________________________________________
. usually have a prior dermatological condition such as psoriasis, atopic derma
titis or mycosis fungoides (Sezary syndrome).
. Intraosseous access:
______________________
. Whenever intravenous access cannot be obtained in emergent pediatric cases, i
ntraosseous access should be attempted next.
. Intraosseous cannulation can be performed quickly in the ED, this technique d
oes not require the precision required for cannulation of small vessels& provide
s
a cannula large enough to deliver adequate fl uids.
. This route can be used in emergencies for 24 to 48 hours, at which point anot
her intravenous route should have been obtained.
. Associated complications such as osteomyel itis are rare.

================================================================
=========================================================

Dr. Hisham Elkilany.
_______________________
__