Pediatrics

OME + UWORLD

SchizoCat
 TABLE OF CONTENTS

NEONATOLOGY 2

INFECTIOUS DISEASE 53

CARDIOLOGY 107

ENDOCRINOLOGY 127

GASTROINTESTINAL 134

HEMATOLOGY 164

MUSCULOSKELETAL 188

DERMATOLOGY 209

NEUROLOGY 216

ENT 240

OPHTHALMOLOGY 241

PSYCHIATRY 244

RENAL 255

REPRODUCTIVE 271

RESPIRATORY 282

MULTISYSTEM 293

pg. 1
 NEONATOLOGY

1. Preparation:
a. Towels, and warmers ON.
b. Respiratory equipment.
c. Check mother’s gravid and para status, gestational age and prenatal care.
2. Within the first minute:
a. STIMULATION. Goal is to overcome primary apnea!
i. To get the baby to take the first breath:
1. Rub back using towels or
2. Tap feet.
ii. Oxygenation; should be maintained between 60 and 65.
1. Desuction the mouth and then nose (to prevent MAS).
2. No response  PPV (positive pressure ventilation).
3. No response  Intubate. Might be secondary apnea.
iii. Heart rate; above 100 bpm.
1. Less than 100 bpm  PPV.
3. At first minute: do APGAR score.
a. Score should be 7-10.
b. Less than 7  do something. Check oxygenation and ventilation.
4. In the first 5 minutes:
a. Maintain SpO2 between 80 and 85 using FiO2. Consider PPV and intubation
use.
b. HR greater than 100 bpm. 60-100 bpm it’s a respiratory problem so PPV.
c. If less than 60, it’s a heart problem so initiate CPR (3:1), umbilical vein
access for epinephrine.
5. At 5 minutes do APGAR score again.
a. Score should be between 7 and 10, or at least there is improvement.
6. Between 5 and 10 minutes:
a. Maintain SpO2 at 90 to 95 using FiO2. Consider PPV and intubation use.
b. HR greater than 100 bpm. 60-100 bpm it’s a respiratory problem so PPV.
c. If less than 60, it’s a heart problem so initiate CPR (3:1), umbilical vein
access for epinephrine.
7. If baby does not improve, continue APGAR until we get to a 7-10.

Routine newborn res uscitation

• Term gestation AND

Conditions • Breathing or crying AND
• Appropriate tone

• Dry and stimu late

Steps • Clear airway (ie, suction oropharynx) as needed
• ProViide wanmth (eg, skin -to-skin)

What is APGAR?

• Assess the need for resuscitation.

pg. 2
 Sign 0 poi nts 1 point 2 points

Appearance/ Completely IBody pink, Completelly

A
color blue/pale extremirties blue pink
p Pulse Absent <100/min >10O/miin

Grimace/ Grimace/ Cough/

G Absent
reaction whimper sneeze/cry

Activity/ Active/
A Ump Some fllexion
muscle tone spontaneous

Respiratory Regullar,
R Absent Slow, weak cry
effort good cry

• Most neonates have scores between 7 and 9 and require no intervention.

• Scores less than 7 may require evaluation and resuscitation.

Healthy neonates:

• Blood-tinged, mucoid vaginal discharge, breast bud development, and labial swelling
are all effects of intrauterine estrogen exposure.
• Withdrawal bleeding occurs 1-2 weeks after delivery and is self-limiting.
• Labial swelling recedes after a few days.
• Breast bud development and even some milky discharge is physiological.
• Loses up to 7% of their birth weight in the first 5 days of life due to excretion of
excess fluid acquired in utero and during labor.
o Birth weight should be regained in 10 to 14 days.
o Weight should double by 6 months and triples by 1 year.
• The number of wet diapers should equal age in days for the first week. After the first
week, infants should have 6 or more wet diapers per day.
• Dry, flaky, peeling skin of the hands and feet is expected as the skin adjusts to the
dry extrauterine environment.

• The appearance of “pink stains” or “brick dust” in neonatal diapers represent uric acid
crystals. Commonly seen during the first week of life.

Maternal estrogen effects in newborns

• Breast hypertrophy (girls & boys)

• Swollen labia
• Physiologic leukorrhea (whitish vagina l discharge)
• Uterine withdrawal bleed ing

© UWorld

pg. 3
Newborn care:

• Newborn screen:
o Done before discharge or fourth day of life.
o More reliable after 48 hours of oral feedings.
 Substrates for metabolic diseases.
o Diseases screened:
 PKU.
 Galactosemia, tyrosinemia.
 21-hydroxylase deficiency.
 Hypothyroidism.
 HbSS/HbC.
 Cystic fibrosis.

Routine newborn care

• Intramuscular vitam in K
Preventive • Erythromycin eye ointment
• Hepatitis B vaccine

• Newborn screen (metabolic/geneti c disorders)

• Hyperbilirubinemia
Screening • Heari ng screen
• Pre- & post-ductal pulse oximetry (congeniital heart disease)
• Hypoglycemia {select populations)

• Congenital heart disease:

o Preductal in the right arm and postductal is either leg.

Fetal growth and maturity: IUGR.

• Symmetric:
o Early insult in utero.
 Chromosomal abnormalities.
 Congenital infections.
 Teratogens.
o Outcomes:
 Etiology dependent.
 Oxygen and nutrients delivery normal.
• Asymmetric:
o Late onset after fetal organ development.
 Uteroplacental insufficiency secondary to:
• Maternal disease.
• Placental dysfunction.
o Outcomes:
 Neurological if brain isn’t getting enough O2 and nutrients.

pg. 4
 Fetal growth restriction

Definition • Weight <10th percentile for gestational age

• Materna l hypertension
• Pregestationa l diabetes mellitus
Risk factors
• Genetic abnormalities
• Congenital infection

• Large anteri or fontanel

• T hin umb ilical cord
Appearance
• Loose, peeling skin
• Minimal subcutaneous fat

• Placenta histopathology
Evaluation
• Consider karyotype, urine toxicology, serology

• Polycythem ia

Neonatal complications
• Hypoglycemia
• Hypocalcemia
. Poor therm oregulation

Preterm:

• Premature: <37 weeks.

o Extreme: <28.
o Very: 28 till 32.
o Late: more than 32.
• Low birth weight:
o <2.5 kgs.
o Due to prematurity, IUGR and both.

Compllcat Olil>S, •Of prematul'I ty

. Respira~ory di:mess. syndro

. Patent ductus. arterim,us
. Bronchopu Imon.,ary dyspla:sla
. hnraverm'icular oo onhage
. · rofi.i:ing enterocolitis
. ~ tllll~Po!thy·of p mattn lty
i)u:sr,,LCMl!ld.w:

Small for gestational age:

• Polycythemia.
• Hypocalcemia.
• Hypoglycemia.
• Hypothermia.
• Hypoxia.
• Perinatal asphyxia.

pg. 5
 • Meconium aspiration.

Large for gestational age:

• Birth weight >4.5 kgs.

• Predisposing factors:
o Obesity and diabetes.
• Higher incidence of birth injuries.
o Shoulder dystocia.
o Talipes equinovarus..
o Talipes calcaneovalgus.
o Hip sublaxation.

Post-term:

• >42 weeks.
• Significant increase in mortality.
• Characteristics:
o Increased birth weight.
o Absence of lanugo.
o Desquamating skin.
o Meconium staining if placental insufficiency.

Birth injury:

• Erb Duchenne associated with ipsilateral diaphragmatic palsy.

o C5 and C6 palsy.
 C5: deltoid and infraspinatus.
 C6: biceps.
 C7: wrist/finger extensors.
 Phrenic nerve.
o C/P:
 Waiter’s tip.

pg. 6
 Management: observation and physiotherapy.
o
 Spontaneous resolution in 3 months.
 Surgical intervention if no improvement after 3 to 9 months.
 Contractures: botulinum toxin.
• Klumpke’s associated with horner’s syndrome.
o C7, C8, T1 and cervical sympathetic nerves.
o C/P:
 Claw hand.
 Absent grasp reflex.
 Horner syndrome.
o Treatment: positioning and partial immobilization; massage and range of
motion exercises.
 if no recovery after 3 to 9 months neuroplasty.
Klumpke and Erb-Duchenne pa lsy

Upper arm
adducted &
Metacarpophalangeal internally rotated
joints hyperextended

arm
Forearm Forearm
supinated pronated

Interphalangea I
joints flexed

Klumpke palsy Erb-Duchenne palsy

"Claw hand" ''Waiter tip"

• Facial nerve palsy:

o Facial hemiparesis.
o Due to forceps delivery or in utero pressure.
o Improvement over weeks.
 Eye care (lubrication).
• Vocal cord palsy:
o C/P:
 Stridor.
 Respiratory distress.
o Direct visualization of the upper airway with an endoscope is required to
differentiate it from laryngomalacia.

Neonatal respiratory distress:

pg. 7
 Common causes of neonatal r,es1Piratory distress

Transient Respiratory Persistent

Diagnos is tachypnea of the distress pulmonary
newborn syndrome hype:rtenslon

Inadequate Surfactant High pulmonary

alveolar fluid deficiency results vascular resistance
Pathophysiology clearance at birth in alveolar results in
results in mild collapse & diffuse right-to-left
pulmonary edema atelectasis shunting & hypoxia

Tachypnea begins Severe respiratory Tachypnea &

shortly after birth distress & severe cyanosis
Clinical features
& resolves by day cyanosis after
2 of life premature birth,

Bilateral perihilar Diffuse, Clear lungs with

linear streaking reticu logranu lar decreased
(ground-gllass) pulmonary
Chest x-ray
appearance, air vascularity
bronchog rams,
low lung volumes

~ UW<Kld

• Transient tachypnea of newborn:

o Self-limited. Usually related to C-section, prematurity, and diabetes.
 Resorption is triggered by increased catecholamine signals in late
gestation and markedly increases during labor.
o Near term babies usually affected.
o Usually grunting.
o Diagnosis on CXR; hyperextended lungs, fluid in fissures, and perihilar
streaking.
o Treatment: supportive care.
o Prognosis: improvement over hours to days.

Transient tachypnea of the newborn

Pathophys iology • Retairned fetal lung1fluid

• Cesarean delivery
Risk factors • Pirematurity
• Maternal diabetes

• liachypnea,. inoreased work of !breathing

CH nlcal Ii ndl ngs . Clear :breatn sol.Inds
. Chest x-ray: Hyperinflati.on, fluid irn fissl.lres

Managernenl • Supportive care (eg, oxygen , nutrition)

• sen-resolution in 1-3 days

• Neonatal respiratory distress syndrome:

o Pathophysiology: immature lungs and surfactant deficiency.
o Risk factors:
 Prematurity.
 Male sex.
 Perinatal asphyxia.
 Maternal diabetes.

pg. 8
 •Maternal hyperglycemia  fetal hyperglycemia  fetal
hyperinsulinism  antagonize cortisol and blocks
sphingomyelin maturation.
 C-section.
oC/P:
 Tachypnea.
 Retractions.
 Grunting.
 Nasal flaring.
 Cyanosis.
o Diagnosis:
 Best initial test: CXR: diffuse reticulogranular pattern (“ ground-glass
opacities”) plus air bronchograms.
 Hypoextended and atelectasis too.
o Treatment:
 Antenatal corticosteroids.
 Postnatal exogenous surfactant and respiratory support (CPAP) for
severe cases.
• Maybe intubation.
o Prevention:
 Delay delivery to term.
• Tocolytics and steroids  before birth.
• Surfactant  after birth.
• Persistent pulmonary hypertension:
o In term and post-term neonates with cyanosis.
o High pulmonary vascular resistance results in right-to-left shunting of
deoxygenated blood through the foramen ovale and ductus arteriosus,
resulting in hypoxia.

Persistent pulmonary hypertension of the newborn

• Abnorma l persistence of elevated feta l pu lmonary

Pathogenesis vascular resistance
• Right-to-left shunting across ductus arteriosus

• Lung hypoplasia (eg , congenital diaphragmatic hernia)

Risk factors • Meconium aspiration syndrome
• Infection (eg, neonatal pneumonia)

• L Postductal relative to preductal oxygen saturation

Ex.a mi nation • Respiratory distress & cyanosis
• Prom inent S2

• Oxygenation & ventilation

Treatment
• Inhaled nitric oxide (pulmonary vasodi lator)

• Meconium aspiration syndrome:

o Meconium in utero due to hypoxia and fetal distress.
o Causes aspiration pneumonitis  failure and pulmonary HTN.
o CXR:
 Patchy infiltrates.
 Increased AP diameter.
 Flattening of diaphragm.
o Treatment: PPV.
o Prevention:
 Endotracheal intubation.
 Airway suction: depressed infants with thick meconium.

pg. 9
  Thin  suction only.
 Thick  intubate and suction.
• Congenital diaphragmatic hernia:
o Post-term neonates.
o Defect in pleuroperitoneal membrane.
o Abdominal hernia herniates into the chest  pulmonary hypoplasia and
pulmonary hypertension.
o Mostly on the left.
o Diagnosis in utero by prenatal ultrasound.
 Polyhydroamnios due to esophageal compression.
o C/P:
 Concave abdomen.
 Barrel shaped chest.
 Absent left breath sounds.
o Management:
 Airway.
 Breathing.
 Circulation.
• Blow by oxygen and bag and mask ventilation are
contraindicated as these maneuvers can pump air into the GIT
and further compromise.
 After airway is secured, nasal or orogastric tube should be placed for
continuous suction.
 Umbilical artery for blood gases and blood pressure.
 Umbilical venous catheter should be placed for fluids and
medications.

Congenltal diaphragmatic hernia

• lrncomplete fllsion of pleuroperiloneal folds

Pathogenesis • Herniation of bowel into chesl
• Pulmonary hypoplasia & hypertension

• Respiratory distress (within hours of birth)

Cllnlcal features • Absent breath sounds ipsilateral to defect

• Concave abdomen; barrel-shaped chest

Diagnosis • Chest x-ray: intrathoracic bowel loops, displaced cardiac silhouette

• EndotraGheal intubation
Management • Gastric decompression (eg , nasogastric tube)
• Surgical correction

Bronchopulmonary dysplasia:

• Complication of RDS due to barotrauma and oxygen toxicity.

• Pathology: decreased surfactant causing decruitment of alveoli and scarring.
• A premature baby with increased oxygen demand (for more than 28 days) and
increase in FiO2 and lung protective strategy is needed.
• C/P:
o Persistent tachypnea.
o Labored breathing (intercostal and subcostal retractions).
o FiO2 > 30% to maintain peripheral saturation >90%.
• Diagnosis is ground glass opacities on x-ray.

pg. 10
 • Treatment is surfactant in child after delivery. Before delivery, give tocolytics and
steroids to mother.
• Complications: diffuse parenchymal lung disease (fibrosis).
• Over time, infants with BPD develop new alveoli, and results of PFT normalize.

Bronchopulmonary dysplasia
• "Old" BPD : prolonged mechanical ventilation & hyperoxia
o Chronic infla mmation - fibrosis & interstitial edema
Pathogenesis
• "New· BPD: prematurity
o Arrest of pulmonary development .... alveolar hypoplasia with t septation
• :?28 days of supplemental oxygen requ irement
Diagnosis
• :t Respiratory distress (eg, tachypnea, retractions)

• Diffuse haziness
Chest x-ray
• ± Hyperinflation, cysllc/fibrolic changes ("old" BPD)
• Optimize nutrition
Treatment
• Wean respiratory support when possible

BPD = bronchopulmonary dysplasia.

Pulmonary interstitial emphysema:

• Air dissecting from the alveoli into the interstitial space.

• Greatest risk occurs within days of birth.

Retinopathy of prematurity:

• Caused by neoangiogenesis due to increased FiO2 requirements.

• Do an eye exam in premature babies  leukocoria.
o Only in severe cases where there is retinal detachment.
• Treatment is laser ablation.
o Ranibizumab.
• Complication is early glaucoma.

Intraventricular hemorrhage:

• Due to highly vascular lining of ventricles (germinal matrix). And also very
susceptible to changes in SBP.
• Causes:
o Hypoxic or ischemic episodes.
o Hypotension.
o Reperfusion of damaged vessels.
o Increased venous pressure.
o Abrupt changes in cerebral flow.
• In premature (<30) or low birth weight (1500g) infants.
• Vascular lining normally involutes on week 34.
• Serial head ultrasounds necessary in children with risk factors.
• C/P:
o Pallor.
o Cyanosis.
o Hypotension.

pg. 11
 o Seizures.
o Focal neurological signs.
o Bulging or tense fontanelles.
o Apnea and bradycardia.
• Treatment is by surgery (VP shunts and drains).
o Repeated scans to monitor progression of the bleed.
• Complications: mental retardation and seizures. Associated with grade 3 and 4.
Hydrocephalus is another common complication.
• Antenatal corticosteroids can reduce the risk.

• Grade I - hemorrhage limited to germinal matrix

• Grade II - intra11enlricular hemorrhage, <50% of venlricle
G1ndlng,
• Grade IU - :-50% of 11entricle or ventricular dilation
• Grade IV - parenchym hemorrhage

lntraventri cu1lar hemorrhage

Pathophysiology • Rupture of fragile genminal matrix vessels

Risk factors • Prematurity

• Very l'ow birth weight
• Often asymptomatic

Clinical! findings • Sei~ures or apnea

• Full fontanel
• Acute anemia
• Cranial! ultrasonography..
Diagnosiis 0 Hyperechoic material (bl!ood) within germinal matrix ± extension to ventricles
or parenchyma

.. Perfo rmed if symptomatic or as routine screening if <32 weeks gestationa l age.

lntraventricular hemorrhage of prematurity

Necrotizing enterocolitis:

• Most common GI emergency in the NICU.

• Pathogenesis:
o Gut immaturity.

pg. 12
 o Exposure to bacteria from enteral feeds.
• Risk factors:
o Prematurity.
o Very low birth weight.
o Reduced mesenteric perfusion (hypotension, congenital heart disease).
o Enteral feeds (formula>breast).
• Breast milk is protective.
• C/P:
o Low APGAR score.
o Hypothermia.
o Lethargy.
o Vomiting.
o Abdominal distention.
o Residual milk in the stomach.
o Bloody bowel movement in premature baby.
• X-ray: best initial test.
o Shows air in the wall of intestine (pneumatosis intestinalis).
o Air in the portal vein too.
o Pneumoperitoneum.
o Leukocytosis.
o Metabolic acidosis.
• Treatment:
o NPO.
o Discontinuation of enteral feeds.
o IV antibiotics against gram negative organisms (to prevent translocation).
 Ampicillin, gentamicin, and metronidazole.
o TPN.
o Surgery in severe cases (which may lead to short gut syndrome)
 Indications:
• Peritonitis.
• Pneumoperitoneum.
• Metabolic acidosis.
• Elevated lactate.
• Portal venous gas.

Necrotizlng enterocolitis

Pathogenesis
• Gut mucosal wall invasion by gas-producing bacteria
• !Intestina l inflammation , necros is
1

Risk
• Prematurity
• Very l ow birth weight (< 1.5 kg [3.3 lb))
factors
• Enteral feedi ng

• Nonspecific: apnea, lethargy, vital sign instability

Clinical
• Gastrointestinal
o Abdominal distension
findings
0 Feeding intolerance•, bilious emesis
0 Bloody stools

X-ray • Pneumatosis intestinallis (air in bowel wall)

findings • Pneumoperitoneum {free air under diaphragm)

Complications
• Sepsis, disseminated intravascular coagulation
• Late : strictures, short-bowel syndrome

pg. 13
 Management of necroti2ing enterocolitis

• Discontinuiation of enteral feeds

Immediate • Nasogasmc decompression
interventions • Blood cultures & empiric antibiol:ics
• Intravenous flluid repletion

Monitoring1 • Serial complete blood count & electrolytes

• Serial abdomina l examinations & imaging

Indications • Bowel perforation (pneumoperitoneum)

for surgery • Clinical deterioration despite medical management (suggestirve of bowel necrosis)

Neonatal clavicular fracture:

Neonatal displaced clavicular fracture

• Fetal macrosomia (maternal diabetes,

post-term pregnancy)
Risk factors
• Instrumental delivery (vacuum or forceps)
• Shoulder dystocia

• Crying/pain with passive motion of affected extremity

Clinical features • Crepitus over clavicle
• Asymmetric Moro reflex

Diagnosis • X-ray

• Reassurance
• Gentle handling
• Analgesics
Treatment
• Place affected arm in a long-sleeved
garment & pin sleeve to chest with elbow
flexed at 90 degrees

• Pinning to decrease the pain.

Common foot deformity:

• Talipes equinovarus (clubfoot).

o Congenital: isolated.
 Rarely associated with a neurological disorder.
o Teratologic: associated with neuromuscular disorder or a complex syndrome.
o Positional: abnormal positioning in utero.
o Management: serial manipulation & serial mold casting then bracing. If fails 
surgery.

pg. 14
 Metatarsus adductus Congenital clubfoot

• Rigid positioning
Clinical • Flexible positioning • Medial/upward deviation of
features • Medial deviation of forefoot forefoot & hindfoot
• Neutral position of hindfoot
• Hyper-plantar flexion of foot

Serial manipulation & casti ng;

Treatment Reassurance
surgery for refractory cases
......... . .

Clubfoot (tallpes equlnovarus)

• Metatarsus adductus:
o Bilateral.
o If rigid, associated pain, limb length discrepancy, or persistence beyond 5
years  surgery.
Normal foot Metatarsus adductus
Correcting metatarsus adductus

Neonatal polycythemia:

pg. 15
 Neonatal! poll ycythemia
Definition . Hematocrit >65% in term infants

. Increased erythropoiesis from intrauterine hypoxia: Maternal diabetes,

hypertension, or smoking ; IUGR
Causes . Erythrocyte transfusion: Delayed cord clamping; twin-twin transfusion
• Genetic/metabolic disease: Hypothyroidism or hyperthyroidism;
genetic trlsomy (13, 18, 21)

• Asymptomatic (most common)

• Ruddy ski n
Cllnlcal . Hypoglycemia, hyperbilirubinemia
presentation . Respiratory distress, cyan osis, apnea
. Irritability, jitteriness
• Abdominal distension

• Intravenous fluids
Treatment • Glucose
. Parti al exchange tran sfusion

• Hypoglycemia and hypocalcemia associated with increased cellular uptake by

increasing RBC mass.
• Treatment:
o Asymptomatic  hydration.
o Symptomatic  partial exchange transfusion (blood replaced with normal
saline).

Anemia of prematurity:

• Should be suspected in premature infants with low hemoglobin.

Anemia of prematurity

• Impaired erythropoietin production

Etiology • Short red blood cell life span
• Iatrogenic blood sampling

Clinical • Usually asymptomatic

manifestations • Tachycardia , apnea, poor we ight gain

• Low hemoglobin & hematocrit

Laboratory
• Low reticulocyte count
findings
• Normocytic, normochromic red blood cells

• Mi1nimize blood draws

Treatment • Iron supplementation
• Transfusions

© UWorld

Apnea of prematurity:

pg. 16
 Apnea of prematurity

• Affects 85% of infants gestational age <34 weeks

Epidemiology
• Affects 99% of infants gestational age <28 weeks

• Intermittent apnea (cessation of resp iration for >20 seconds)

Clinical features • Often associated with bradycard ia & desaturation
• Well-appearing between episodes

• Clinical
Diagnosis
• ± Evaluation for alternate causes (eg , seizure, infection)

• Caffeine
TreatmenUp rognosis • Noninvasive ventilation
• Resolves with time

• Evaluation for other causes of apnea if:

o New, sudden-onset apnea after first few days of life.
o Severe manifestations of apnea (requires resus).
o Ill-appearing with abnormal PE findings between episodes.
o Symptoms persist longer than expected (beyond term).

Cephalohematoma:

• Subperiosteal hemorrhage.
o Limited to one cranial bone.
• No discoloration of overlying scalp.
• Swelling visible a couple of hours after delivery.
• Jaundice!

Caput succedaneum:

• Superficial to periosteum.
• Diffuse, ecchymotic, swelling of the scalp.
• Crosses suture lines.

Caputsuccedaneum
• Diffuse edematous swelling
of soft tissues of scalp
• Crosses suture lines
• Resolves in few days
• May lead to molding for
weeks
• Subperiosteal hemorrhage
• Does not cross suture lines
• May have underlying linear
fracture
• Resolve in 2 wks to 3 mths
• May calcify
• Jaundice

Subgaleal hemorrhage:

• Between periosteum and galea aponeurosis.

• Rupture of the emissary veins due to traction.

pg. 17
 • Fluctuant scalp swelling, crosses suture lines and expands after delivery.
• Can extend to the neck.
• Tachycardia and pallor secondary to excessive blood loss.
• Clinical diagnosis.
• Can lead to hypovolemic shock, DIC, and death.
• Treatment: supportive.

Types of cranial hematomas

Subgaleal Subdural
Caput hemorrhage hematoma Scalp Galea
,d
succedaneum
Y- aponeurotica
Periosteum

~ Dura mater
_/f:..- -;/ Arachnoid
~ membrane

Cerebral
Epidural
hematoma l

Neonatal sca lp sweUi ng

Caput
Ce1phalohematoma Subgaleal hemo.rrhage
succedaneum

Location • Subcutaneous
• Subperiosteal (between skulll & • Between periosteum & galla
periosteum) aponeurotiica

• Present at birth
• Present hours after birth • Can expand over days
Clinical
• Soft, boggy
• Firm , nonfluctuant • Soft, fl uctuant
features
• Crosses sutures
• Does not cross sutures • Diffuse, crosses sutures
• Overlying skiin is
• Overlying skin is norm al • ± Overlying bruising
normal

Prognosis
• Self-resolves in • i Hyperbilirubinemia risk • Can cause life-threatening
days • Resorbs within a month blood loss

Neonatal hydration:

pg. 18
 Evaluation of neonatal hydration

• Decreased wet diapers

• Absence of tears
Signs of • Sunken fontanelle
dehydration • Dry mucous membranes
• Decreased skin turgor
• Delayed capillary refill

• Continue excluS!ive breastfeeding

<7% • Follow-up at age 10-14 days to
check that infant has regained
birth weight
Management
of weight loss
• Assess for oromotor dysfunction
• Assess for lactation failure
~7%
• Daily weights
• Consider formula supplementation
©UWor1d

Infant of diabetic mother:

Infant of diabetic mother - complications

Maternal hyperglycemia

Congenital heart disease Fetal hyperglycemia

Neural tube defects & hyperinsulinemia
• Small left colon syndrome
• Spontaneous abortion

t Metabolic
demand

! Macrosomia

Fetal
hypoxemia
i
Shoulder

!
t Erythropoiesis
t
I Polycythemia II Organomegaly I Neonatal
hypoglycemia
Brachia! plexopathy
Clavicle fracture
Perinatal asphyxia
©UWortd

• Hypoglycemia, polycythemia, and hypocalcemia can cause seizures.

o Hypocalcemia seizures  IV calcium gluconate.
• Osmotic diuresis  maternal hypomagnesemia  fetal hypomagnesemia  fetal
hypocalcemia.
o C/P: jitteriness, respiratory symptoms (apnea, stridor from laryngospasm,
wheezing from bronchospasm), and, if severe, seizures.

pg. 19
 o Management: correction of magnesium then calcium.
• Fetal hyperglycemia  increased fat and glycogen storage  macrosomia.
• Polycythemia  renal vein thrombosis.
o C/P:
 Thrombocytopenia.
 Hematuria.
 Abdominal mass that was not present at birth.
 Adrenal insufficiency if it extends to IVC.
o Diagnosis:
 Renal US with renal vein doppler studies.

Neonatal complications of diabetes during pregnancy

• Maternal hyperglyoem ia--, feta l hyperglycemia & hyperinsullinemia

Pathogenesis • t Fetal fat & glycogen stores
• t Fetal metabolic demand

• Prematurity
• Congenital anomalies (eg, caudal regression syndrome)
Associated • Macmsomia & associated complications (eg, brachia! plexus injury,
risks clavicle fracture)
• Respiratory distress syndrome
• Hypertrophic cardiomyopathy

• Hypoglycem i,a
Laboratory • Polycythem ia, low iron
fi ndings • Hypocalcemi,a & hypomagnesemia
• Hyperbilirubinem ia

Hypertrophic cardiomyopathy in infants of diabetic mothers

• Maternal hype rglycemia --> fetal hyperglycem ia & hyperinsu linemia
Pathogenesis • t Glycogen & fat deposition in interventricular septum --> dynamic LVOT
obstruction

• Often asymptomatic
Clinical
• May have respiratory distress and/or hypotension
findings
• Systolic ejection murmur

• Chest x-ray: cardiomegaly

Imaging
• Echocardiog ram : t thickness of interventri cular septum, ! LV chamber size

Treatment • Intravenous fluids & beta blockers to increase LV blood vol ume

Prognosis • Spontaneous regression by age 1

LVOT = left ventricular outflow tract.

• Gets better as the insulin levels normalize.

Hypoglycemia:

• Pathogenesis: macrosomia (GDM), microsomia (IUGR).

• Completely asymptomatic sometimes, and sometimes jittery, tremors and seizures.
• Diagnosis: check RBG, look for causes of infection (may be sepsis).
• Treatment: asymptomatic babies just feed them. For symptomatic 2ml/kg IV of D50.
Persists: drip of D5 or D10.
o Hypoglycemia is considered:
 <60 in children.

pg. 20
  <35 in preterm.
 <45 in term.

Neonatal Conjunctivitis: the best way to prevent conjunctivitis is by screening, diagnosing

and treating pregnant mothers. Diagnosis by PCR.

• Chemical:
o In the first 24 hours.
o Caused by silver nitrate.
• Gonococcal:
o 2-5 days after birth.
o Copious exudate and eyelid swelling.
o Gram stain with gram negative diplococci.
o Culture on Thayer-Martin media.
o Treatment:
 Hospitalization.
 IV or IM ceftriaxone or cefotaxime.
o Prophylaxis: topical erythromycin within 1 hour of birth.
• Chlamydial:
o 5 to 14 days after birth.
o Chemosis, eyelid swelling and watery discharge (less purulent than
gonococcal).
o Treatment:
 Hospitalization.
 Oral erythryomycin. HPS is a complication.

Neonatal conjunctivitis

Onset
Type Findings Treatment
age

<24 • Mild conjunctival irritation & tearing after silver nitrate

Chemical Eye lubricant
hours ophthalmic prophylaxis

• Marked eyelid swelling

2-5 Single IM dose of 3rd- generation
Gonococcal • Profuse purulent discharge
days cephalosporin
• Corneal edema/ulceration

5-14 • Mild eyelid swelling

Chlamydia! PO macrolide
days • Watery, serosanguinous, or mucopurulent eye discharge

Mongolian spots (congenital dermal melanocytosis):

• C/P:
o Benign, flat, blue-grey patches on the lower back and buttocks usually.
o Clearly demarcated.
• Pathogenesis: melanocytes migrates from neural crest to epidermis during
development become entrapped in the dermis.
• Fades spontaneously in the first decade of life.

Congenital melanocytic nevus:

pg. 21
 • Benign proliferation of melanocyte cells.
• Presents in the first few months of life.
• Solitary, hyperpigmented lesions with an increased density of overlying dark, coarse
hairs.
• Initially flat and then becomes raised in adulthood.
Common pigmented lesions in childhood
Congenital dermal Congenital
Cafe -au-lait spots melanocytosis melanocytic nevus

• Flat. hyperplgmented patches • Blue-gray patches • Benign melanocyte

• Associated with McCune-Albright • More common in Asians proliferation
syndrome or neurofibromatosls & African Americans • I Density of hair follicles

Benign neonatal rashes:

pg. 22
 Benign neonatal rashes

Diagnosis Onset Clinical features Management/resolullon

• Pustules with

Eryttiema toxicum
• Birth to erylhematous • Observalion

rneonatorum
age3 base on t~unk & • Resolves within a
days prol!limal week
extremities

• Firm, while • Observalio.n

Milia • Birth
papules on face • Resolves within a
month

• Any • Erythematous, • Avoid overheating

(eg, oool
age, papular rash on
environmernt,
Miliania rub.ra lbut not occluded &
th in/cotton clothing)
present intertriginous
at birth areas • If severe, topical
oorticosteroid

• Nonerylhematous
pustules ..... evolve
into • Observalio.n

Neonatal pustular
hyperpigmentecl • ~ustules resolve

melanosis • Birth macules with within days

collarette of scale • Hyperpig mentaliorn
• Diffuse, may may last months
involve palms &
soles

• Observalion

• Around • Erythematous • Resolves in weeks to

Neonatal cephalic papules & months
age3
pustulosis
weeks
pustules on face & • tf severe, topical
scalp only oorticosteroid or
lkeloconazole

Cutis marmorata:

• Risk factors:
o LGA.
o Hypothermia.
o Asphyxia.
o Hypoxia.
• Lacy reticulated body pattern over most of body when body is cold or crying.
• Abnormal if persists for more than 1 month.

Milia:

• Firm white papules.

• Inclusion cysts.
• Palate midline  Epstein pearls.
• Spontaneous resolution.

pg. 23
Neonatal cephalic pustulosis (previously known as neonatal acne):

• Erythematous papules on face.

• Inflammatory reaction to Malassezia species.
• Nothing to do with androgens.
• Management:
o Daily cleansing with gentle soap and water.
o Oil containing lotions and emollients should be avoided.
o Severe cases  low potency topical steroids or ketoconazole.
o Condition self-resolves withing weeks to months without scarring.

Salmon patch (nevus simplex):

• Simple nevus.
• Pale pink vascular macules.
• Located in nuchal area, glabella, and eyelids.
• Usually disappears.

Nevus sebaceous:

• Elevated lesions with surrounding alopecia.

• Treatment: debatable (excise in adolescence vs only if persistent after puberty).

Erythema toxicum neonatorum:

• Benign.
• Baby looks healthy.
• Yellow-white papules/pustules with erythematous base.
• Migratory.
• Peaks second day of life.
• Not present in the first day of life.
• Eosinophils on microscopy.

pg. 24
 Neonatal rashes
I
!

Diagnosis Clinical presentation Treatment

!

Erythema Asymptomatic, scattered

toxicum erythematous macules, papules None
neonatorum & pustu les throughout the body

Three patterns
• Vesicular clusters on skin, eyes
Neonatal HSV & mucous membranes Acyclovir
• Central nervous system infection
• Fulminant, disseminated
multi-organ disease

Fever; ranges from vesicular

Neonatal
clusters on skin to fulminant, Acyclovir
varicella
disseminated disease

Staphylococcal Fever, irritability & diffuse erythema

Oxacillin , nafcillin ,
scalded skin followed by blistering & exfoliation ,
or vancomycin
syndrome positive N ikolsky's sign

©UWorld

Hemangioma:

• Capillary: bright red and protuberant.

• Cavernous: bluish hue and less likely to regress.
• Natural history.
• Treatment for cavernous in threatening area: steroids and pulsed laser.
• If you find one  look for another.

Preauricular tag and pits:

• Majority is benign.
• Tag  associated with higher risk of cleft lip.
• Pit  associated with hearing problems.
• Assess for hearing loss and genitourinary anomalies.

Iris coloboma:

• Cleft at six o’clock.

• CHARGE association.
o Coloboma, heart defects, atresia chonae, retardation of growth/development,
genital hypoplasia (males), and ear anomalies.

Aniridia:

• Hemihypertrophy  wilm’s tumor.

pg. 25
Syndactyly:

• Fusion of fingers and toes.

• Next step  an x-ray.
o Determines management.

Polydactyly:

• >5 fingers or toes.

• No treatment needed if good supply.
• Treatment:
o Excision.
o Do a cardiac exam in a white child.

Dacryostenosis:

• Congenital.
• Nasolacrimal sac obstruction.
• Chronic unilateral tearing.
• Gentle massage of nasolacrimal duct resolves the condition.

Dacryos tenosis

Lacrllmu
gland 1-tlsolacrlm~I o.ac

Nasolacrim•lJ
ruc1

IDUWorld

Cleft lip and palate:

• Pathology: failure to grow or failure to fuse. Either soft palate or hard palate or lip
itself. Can be superficial or all the way to the deep sinuses. Can be bilateral,
unilateral or midline.
• Increased risk of otitis media.
• Primarily a cosmetic issue. Not able to latch to nipple so failure to thrive. Recurrent
infection if deep structure is involved.
• Diagnosis is clinical.
• Treatment is surgical; lip at 11-12 weeks, palate at 11-12 months. Use special device
for latching.
 Lip: 10 pounds, 10 weeks, 10 hemoglobin.

pg. 26
Neural tube defects:

Anencephaly on fetal ultrasound

Neural tube defects

• Anencepha ly
Types • Encephalocele
• Spina bifida, myelomeningocele

• Low folic acid intake

Risk • Methotrexate, antiepileptics
factors • Diabetes mellitus
• Prior pregnancy with neural tube defect

• 2nd-trimester ultrasound
Prenatal screening
• Maternal serum alpha-fetoprotein

• Average risk: 0.4 mg folic acid daily

Prevention
• High risk : 4 mg folic acid daily

• Diagnosed at prenatal care: increased AFP and seen on ultrasound. No prenatal

care: tuft of hair or a full blown meningomyelocele.
 Anencephaly associated with polyhydramnios.
• Can be spina bifida occulta (tuft of hair or dimple) or spina bifida cystica
(meningocele or myelomeningocele).
• Treatment is surgically.
• Check associations; Arnold Chiari and hydrocephalus, focal neurological deficits in
meningomyelocele.
Myelomeningocele

• Most com mon neural tube defect

Pathophysiology
• Failure of neural tu be clos ure
a Protrusion of meninges, cerebrospinal fluid & spinal cord through skin
• Increased risk with maternal folate deficiency

Clinical features
• Membranous sac over lumbosacral region
• Severe neurologic deficits distal to lesion (eg , paralysis , bowel/bladder incontinence)

• Chia ri II malformation
Associated
0 Inferior displacement of medulla & cerebellum through foramen magnum
abnormalities
o Obst ructive hydrocephalus

Congenital hypothyroidism:

pg. 27
 Congenital hypothyroidism

• Usually asymptomatic at birth (rarely causes delayed meconium passage)

• After matern al thyroxine wanes (weeks to months)
o Lethargy, poor feeding
Clinical o Enlarged fontanelle
manifestations o Protruding tongue, puffy face, umbilical hern ia
o Constipation
o Prolonged ja und ice
o Dry skin

• j TSH & L free thyroxine levels

Diagnosis
• Newborn screening

Treatment • Levolhyroxine•

• No deficits if treatment started in neonatal period

Prognosis • Untreated disease is associated with neurocog nitive dysfunction (eg ,
L intelligence quotient)
•Avoid coadministration with soy products, iron, or calciu m.

• MCC is thyroid dysgenesis.

• Initially normal due to the maternal hormones in the infant’s circulation.
• Initial dose of levothyroxine is 10 mcg/kg then titrated accordingly.

Neonatal thyrotoxicosis:

• C/P: symptoms may appear after birth or can be delayed up to 10 days as a result of
transplacental maternal antithyroid medication (e.g. PTU or carbimazole).
o Microcephaly.
o Stridor.
• Should be treated as soon as it diagnosed to prevent complications:
o Cardiac failure.
o Intellectual disability.
o Craniosynostosis.

Neonatal thyrotoxicosis

• Transplacental passage of maternal anti-

TSH receptor antibodies
Pathophysiology
• Antibodies bind to infant's TSH receptors
& cause excessive thyroid hormone re lease

• Warm , moist skin

• Tachycardia
Clinical features
• Poor feeding , irritability, poor weight gain
• Low birth we ight or preterm birth

• Maternal anti-TSH receptor antibodies

Diagnosis
<'.500% normal

• Self-resolves with in 3 months

Treatment (disappearance of maternal antibody)
• Methimazole PLUS 13 blocker
e uwortd

Neonatal jaundice:

pg. 28
Physiologic Jaundice Pathologic Jaundice

• Second to third DOL (term) • First 24 hours of life

• Disappears by 5th -7 th DOL • Variab le

• Peaks at 2 nd to 3rd DOL • Variab le

• Peak bilirubin , 13 mg/dl • Unlimited

• Rate of rise <5 mg/dl/d • Usually > 5mg/dl/d

~-___, Jaundice I-----~

Physiologic ~ - - - - - - - - - - - - 1 Pathologic

Indi re ct

Coom bs+ Coombs - Sepsis

TORCH
Nml/lo Hgb TPN
Hypothyroid
Rh Enzyme defects Gal actosemia
ABO Polycythemia Membrane Tyros inemi a
Minor Twin-twin defects CF
Maternal- Hemorrhage Cho ledochal
fetal cyst
Crigler-Najjar
IUGR Biliary Atresia
Breast feeding

pg. 29
 Neonatal indirect hyperbilirubinemia
Cause Examples

• Immune-mediated hemolysis (Coombs positive)

o Rh isoimmunization
o ABO incompatibility
t Bilirubin • Nonimmune-mediated hemolysis (Coombs negative)
production o RBC membrane defects (eg, spherocytosis)
o RBC enzyme defects (eg, G6PD deficiency)
• Cephalohematoma
• Polycythemia

l Bilirubin • Gilbert syndrome

clearance • Crigler-Najjar syndrome

i Enterohepatic • Lactation failure jaundice

circulation • Breastmilk jaundice

G6PD = glucose-6-phophatase dehydrogenase; RSC = red blood cell.

• Kernicterus: if bilirubin reaches basal ganglia, it causes damage.

o Conjugated bilirubin:
 Water soluble since its charged.
 Does not cross cell membranes.
 Secreted in urine, darkens it.
 Cannot cross BBB, thus doesn’t cause kernicterus.
o Unconjugated bilirubin:
 Fat soluble.
 Not excreted in urine, thus doesn’t darken it.
 Crosses BBB, leading to kernicterus.
o Convert unconjugated to conjugated using phototherapy. Exchange
transfusion when its really high.
• What to do with a yellow baby:
o Determine bilirubin type:
 Conjugated (pathological):
• Ultrasound.
• LFTs.
• HIDA scan and phenobarbital.
• Sepsis.
• Metabolic or genetic.
 Unconjugated (physiological):
• CBC and reticulocyte count.
• Coombs test and blood smear.
• Thyroid function test.
• Causes:

Lactation failure jaundice vs breast milk jaundice

Diagnosis Timing Pathophysiology Clinical features

Insufficient in take of breast milk:

• Suboptimal breastfeeding
Lactation failure jaundice Age <1 week • ! Bilirubin elimination
• Signs of dehydration
• i Enterohepatic circulation

j ~-glucuronidase in breast milk:

Age >1 week • Adequate breastfeed ing
Breast milk jaundice • j Deconjugation of intestinal bilirubin
(peaks at 2 weeks) • Well-hydrated
• i Enterohepatic circulation

pg. 30
 o Breastfeeding jaundice:
 Causes:
• Maternal: Inadequate milk supply, cracked/clogged nipples,
engorgement, and infrequent feeding.
• Child: poor latch, ineffective suck, and falling asleep.
 They’re usually dehydrated.
 Treatment:
• Increase frequency and duration of feeds; 8 to 12 times a day
every 2-3 hours and should last 10 to 20 mins or more during
the first month of life.
o Breast milk jaundice:
 No feeding problems.
 No dehydration.
 Treatment: continue breastfeeding and supplement with formula
feeds.
o Biliary cyst (choledochal cyst):
 Increases risk for pancreatitis due to abnormally long common
channel connecting the pancreatic duct and CBD.
• Length channel is predisposed to obstruction from plugs and
stones  reflux of pancreatic fluid, as well as cholestasis.

Biliary cyst

• Cystic di lation of biliary tree

Pathogenesis • Most common: single, extrahepati:c dilation of common bile
duct (type I)

• May be incidental finding on imaging

• Classic triad• in chii ldren/adults
o Abdominal paiin
0 RUQ mass
Presentation
0 Jaundice
• Neonates: jaundice, adholic stools, dark uriine,
hepatomegaly
• ± Nausea, vomiting

Diagnosis • Ultrasound ± CT scan or MRCP

• Cholangiocarciinoma
• Acute cholangitis
Complications
• Pancreatitis
• Stone formation

• Cyst resection (to! risk of malignancy)

Treatment • ± Roux-en-Y hepaticojejunostomy (to allow for biliiary
draiinage)

•often, only two-thirds of findings are present.

MRCP " magnetic retrograde cholangiopancreatography; RUQ " right upper quadrant

o Biliary atresia:
 US: abnormal/absent gall bladder, absent common bile duct, and
triangular cord sign (fibrous remnants seen above porta hepatis).
 Liver biopsy should be performed in all patients with suspected BA to
exclude alternative diagnoses because a delay (beyond 8 weeks) in
diagnosis and surgical intervention for BA is associated with a higher
risk of liver transplantation and mortality.

pg. 31
 Biliary atresiia
Pathogen esis • Extrahepatic bi le duct fibros is

• Asymptomatic at birth
Clin ical • Infants age 2~8 weeks:
find ings 0 Jaundice, acholic stools, dark urine
0 Hepatomegaly

• Direct hyperbi liru binemia

• Ultrasound:
o Absent/abnormal gallbladder &/or CBD

Diagnostic
• Liver biopsy:
0 lntrahepatic bile duct proliferation,
evaluation
0 Portal tract inflammation & edema
0 Fibrosis
• lntraoperati;ve oholangiography (gold standard):
0 Bil iairy obstruction

Treatment
• Surgiical hepatoportoenterostomy {Kasai procedure)

• Liver transplant
BIiiary atresia
Portal tract edema
& inflammation

Atretic
cyslic duct

Alretic common
bile duct

Normal Abnormal

© UWot1d

o Gilbert’s:

GIibert syndrome
Epidemiology • Most common inherited disorder of bi lirubin metabolism

Pathogenesis • ! Hepatic UDP glucuronosyltransferase activity .... t conjugation of bi lirubin

• Recurrent episodes of mild jau ndice
Clinical
• Provoked by stress (eg, febrile illness , fasting, dehydration, vigorous exercise,
findings
menstruation, surgery)

• t Unconjugated bilirubin (ie, indirect hyperbilirubinemia)

Diagnosis • Normal CBC, blood smear, reticulocyte count
• Normal AST, ALT, alkaline phosphatase

Treatment • Benign ; no treatment required

 Unconjugated hyperbilirubinemia (<3 mg/dl).

o Criggler Najjar:
 Autosomal recessive.

pg. 32
  Complete deficiency of UDP-glucuronyl transferase.
 Liver transplantation.
o Dubin-Johnson:
 Autosomal recessive.
 Conjugated hyperbilirubinemia. (>20% direct)
o Alloimmune hemolytic anemia:
 Coombs positive.
 ABO or Rh incompatibility. Also Duffy.
• Mother is Rh – and baby is Rh +; happens in the second
pregnancy if the mother was not given anti-D igG prior to
delivery.
• Mother is O and baby is A or B; happens from the first
pregnancy. Milder than Rh incompatibility.

ABO hemolytic disease

Risk factors • Infa nts with blood types A or B born to a mother with blood type 0

• Jaundice within 24 hours of birth

• Anemia
Clinical features • j Reticulocyte count
• Hyperbilirubinemia
• Positive Coombs test

• Serial bilirubin levels, oral hydration & phototherapy for most neonates
Management
• Exchange transfusion for severe anemia/hyperbilirubinemia

o Physiological jaundice of newborn:

 Benign, resolves in 1 to 2 weeks.
 Causes:
• Increased hemoglobin turnover.
• Decreased UGT activity. (especially in Asians)
• Sterile newborn gut:
o Cannot breakdown bilirubin to urobilinogen for fecal
excretion  more bilirubin resorbed.
 High levels can lead to kernicterus.
 Treatment:
• Phototheraphy (>20 mg/dl)
• Exchange transfusion (>25 mg/dl)
• Treatment of jaundice:
o Phototherapy when bilirubin level is more than 20 mg/dl.
 Isomerization of the unconjugated bilirubin.
o Exchange transfusion when levels are more than 25 mg/dl or those with
bilirubin induced neurological dysfunction.
o Supportive (enhance enteral nutrition)
o Phototherapy:
 Can be single / double / intensive
 Intensive phototherapy may lead to dehydration b/c of high insensible
water loss  give IV fluids
 Duration: usually 1-2 days unless it is due to ABO / Rh incompatibility
then 7 days
 It can be stopped when the bilirubin levels drop by 2 squares (50
umol/L) to make sure you do not need to repeat it. Note that once
discharged, the family are unlikely to bring him back so if he develops
jaundice again, the treatment was not adequate (if he returns within
72 hours of discharge then the decision to discharge was incorrect).

pg. 33
 Note: the sun is useless as the waves are harmful and are also filtered

by the windows; if the patients mention history of a previous child who
improved with sun-bathing, explain to them that jaundice can fade
away on its own and that it was not due to the sun.
o Exchange transfusion: indications:
 Hemoglobin < 8 g/dL
 Signs of acute bilirubin encephalopathy (hypertonia / arching /
retrocollis / opisthotonos / fever / high-pitched cry)
 Total bilirubin is > 5 mg/dL above the lines on the graph
25 428
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oimmilne hamolylilc , 6PD cl Ji ncy, _ , 5ig , ilic.anl lettia10, · &ITIP re
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below I Wfl t.J t'IOm i, oto rJ111 slYiuld nol oei used n ny infanl 11tl ri 'f.actors.

Why is jaundice dangerous?

- Kernicterus (Hyperbilirubinemia Encephalopathy)

• When bilirubin rises dramatically (total bilirubin >30 mg/dl).
• Prevention: serial exams and bilirubin monitoring in the early neonatal period.
- Liver Cirrhosis
• Due to the biliary stasis

pg. 34
 Bilirubin-induced neurologic dysfunction

• Excess levels of free, unconjugated bilirubin cross the blood-brain barrier

Pathophysiology • Deposition of bilirubin in basal ganglia & brain stem nuclei
• Neurona l damage, necrosis & atrophy

• Prematurity

Risk factors
• Hemolys is (eg, G6PD deficiency)
• Birth trauma (eg , cephalohematoma)
• Exclusive breastfeeding with excessive weight loss

• ± Reversible (treatment: phototherapy, exchange transfusion)

• Clinical findings
Acute
0 Lethargy or inconsolability
encephalopathy
0 Hypotonia (early) or hypertonia (late)
o Apnea/respiratory fai lure, feeding difficulties, seizures

• Irreversible
• Clinical findings
Chronic 0 Developmental delay
encephalopathy o Sensorineural hearing loss
o Choreoathetoid movements
0 Upward gaze palsy

Side effects of phototherapy:

- Loose stools (due to excretion of bile salts & unconjugated bile)

- Skin rash and tanning of skin
- Hyperthermia / hypothermia
- Dehydration (insensible water loss)
- Damage to exposed eye / genitalia

Drawbacks of exchange transfusion?

- Due to umbilical catheterization: embolism / thrombosis / sepsis / portal hypertension (later

in life)
- Heart failure (due to volume overload)
- Hazards of blood transfusion
- Hypocalcemia / hypoglycemia / hyperkalemia

Maternal drug use:

pg. 35
 Opioids
• LBW, most with IUGR
• Increased rate of stillborns
• No increase in congenital
abnormalities
• Early withdrawal symptoms
• Tremors and hyperirritability
• Diarrhea , apnea, poor
feeding , high-pitched cry,
tachypnea , hyperacusis,
seizures
• Increased risk of SIDS
Cocaine
• No classic withdrawal
symptoms
• Preterm labor, abruption,
asphyxia
• IUGR
• Impaired auditory
processing, developmental
delay, learning disabilities
• CNS ischemic and
hemorrhagic lesions

• Diagnosis:
o Clinical presentation and history.
o Meconium toxicology.
• Treatment:
o Narcotics, sedatives and hypnotics + reduce noxious stimulation.
• Complications:
o LBW.
o IUGR.
o SIDS.

Neonatal abstinence syndrome:

• The opiates they’re most commonly exposed to are heroin and methadone.
• Not associated with dysmorphic features or congenital anomalies.
• C/P:
o IUGR.
o Macrocephaly.
o SIDS.
o Neonatal abstinence syndrome.
 C/P:
• Irritability.
• High pitched cry.
• Poor sleeping.
• Tremors.
• Seizures.
• Sweating.
• Diarrhea.
• Vomiting.
• Sneezing.
• Tachypnea.
 Management: symptomatic.
• Morphine can be administered and then weaned to help
control opiate exposure.

Fetal hydantoin syndrome:

pg. 36
 • Maternal phenytoin or antiepileptic therapy.
• C/P:
o IUGR.
o Craniofacial abnormalities.
o Short neck.
o Fingernail/phalanx hypoplasia.
o Excessive hair.
o Microcephaly.
• Treatment:
o Largely supportive.
o Surgery for cleft palate.
• Mothers on phenytoin should take vitamin K in the third trimester.
Fetal hydantoin syndrome

MicrooephJ1y

Fetal valproate syndrome:

• C/P:
o Midface hypoplasia.
o Cleft lip.
o Cardiac defects.
o Long, thin fingers and toes.
o Convex nails.
o Meningomyelocele.

pg. 37
 Teratogenic medications

Drug Adverse effects

Neural lube defects, microcephaly, orofacial clefts,

Plhenytoin
dysmorphic facial features, dista ll digit/nail hypoplasia

Ebstein anomaly, nephrogenic diabetes insipidus,

Lithium
hypothyroidism

Valproate Neural lube defects

lsotretinoin Microcephaly, thymiic hyipoplas ia, small ears, hydrocephallus

Limb & craniofadal abnorma lities, neural lube defects,

Methotrexate
abortion

ACE inhibitors Renal dysgenesis, oligohydramnios

Warfarin Nasal hypoplasia, stippl!ed epiphysis

Well child visits:

• Physical examination:
1. Measure baby’s weight, length, head circumference.
2. Look at the cord: 2 arteries and 1 vein, and a clamp close to baby and remove
excess.
3. Vitamin K ( to prevent hemorrhagic disease of new born) shot and Hepatitis B
vaccine or IvIG based on mum’s preference.
4. Conjunctivitis prophylaxis using erythromycin.
5. Start scalp for fontanelles and hematomas.
a. Cephalohematoma: located below periosteum thus limited by suture lines.
b. Caput succedaneum: above periosteum thus not limited by suture lines.
c. Both caused by vacuum assisted deliveries or forceps.
6. Check red reflex (retinoblastoma).
7. Check for cleft lip or palate.
8. Feel the bones for crepitus especially clavicles.
9. Look for murmurs and abnormal lung sounds.
10. Assess cord for gastroschisis and omphalocele.
11. Assess genitalia for gender of baby and check for defects that might need
fixation.
12. Look for imperforate anus.
13. Baby’s skin for jaundice.
14. Ortolani and Barlow maneuvers.
• Components:
o Vaccinations.
o Growth:
 Look for signs of failure to thrive.
 Measure their lengths as babies, height when they start standing.
 Measure weight.
 Measure head circumference.
 Put it on a growth chart.
• Problem is when they fall of the chart; lower than 5th percentile
 failure to thrive.
• First weight then height then head circumference.
 Causes of failure to thrive:

pg. 38
 Organic: •
o Genetic.
 Prenatal screening; for example Cystic Fibrosis.
o Heart disease.
o Pyloric stenosis.
• Non-organic:
o Formula.
o Feeds.
o Frequency.
o Assess for abuse/neglect:
 Any injury of infant.
 Suspicious injuries.
• Subdural hematoma.
• Femur fracture.
o Safety:
 Smoking cessation.
 Seatbelts.
Seat belt positioning

Proper position Improper posillon

✓ Kn HI bil!nd I. Kn6Md0n'I
ov,ir OdljO raadl edl)l!II
o( 81!8! r,/ONI

..,,.,.,,,.
 Car seats.
Motor vehicle restraints

Age range 0-4• 2-8· 5-12· 9-adult

Rear-facing Forward-facing Booster Seat belt

car seat car seat seat

Recommended
safety device••

•or earlier, if child outgrows height OR weight limitation of sa fety device.

•*All children age <13 should sit in back passenger row.

• Children are at increased risk of serious head and spinal cord

injury from MVCs due to incomplete vertebral ossification,
disproportionately large heads, and increased ligamentous
laxity.
• Children should remain rear facing until they surpass the
maximum height or weight limit set by the manufacturer of their
specific car sear; usually between the age of 2-4.

pg. 39
  Gun safety.
 Drowning/pool safety.
 Trampoline.
Injury prevention in ch il dren

• Never leave child unattended arou nd water

• Fence all 4 sides of pool & install self-locking , self-latching gate
Water
• Use life jackets
• Teach child to swim

• Install smoke detectors on every level of home

Fi re
• Test smoke detectors & change batteries regularly

• If present, store guns unloaded and locked

Gun
• Store amm unition separately from guns

• Lock medications & toxic household products out of reach

• Remove dangling cords & cover power outlets
• Install safety gates on stairs
Home
• Set water heater to maximum temperature of 49 C (120 F)
• Mount fu rniture & TV to wall
• Avoid choking hazards (eg , whole grapes, raw vegetables, small objects)

Choking hazards:

• Uncut hot dogs, hard candy, nuts, seeds, and popcorn.
• Latex balloons, marbles, and coins.
 Cover electrical outlets.
 Installing gates on the top and bottom of staircases.
 Mounting televisions and furniture to the wall.
o Development:
 2 months:
• Lift head.
• Social smile.
• Noise.
 4 months:
• Lift body.
• Noise.
 6 months:
• Sit up.
• Stranger anxiety.
• Noise.
 1 year:
• Walk.
• Separation anxiety.
• 1 word.
 2 years:
• Stairs.
• 2 words in a sentence.
 3 years:
• Tricycle.
• 3 words in a sentence.
• Circle.
 4 years:
• Hop.
• 4 words in a sentence.
• Cross.
 5 years:
• Skip.

pg. 40
 • 5 words in a sentence.
• Triangle.

Immunizations:

Contraindications & preca utions to

diphtheria-, tetan us-, &/or pertussis-containing immunizations

Vaccine
Contraindications Precautions
component

• Moderate or severe acute

illness +/- fever
• Guill ain-Barre syndrome with in
• Anaphylaxis to vaccine 6 weeks of tetanus loxoid-
Diphtheria/ ingredients containing vaccine
tetanus
• Arthus-type hypersensitivity
reaction fo llowing diphtheria- or
tetanus toxoid-conta ining
vaccine

• Moderate or severe acute

• Anaphylaxis to vaccine
ingredients
• Progressive neurologic
disorder (eg , uncontrolled
Pertussis
epilepsy, infantile spasms}
illness +/- fever
• Reactions to previous doses:
• Seizure within 3 days
• Temperature N0.5 C (105
F} within 2 days

• Encephalopathy within a • Hypoton ic-hyporesponsive

week of previous vaccine episode within 2 days
dose
• Inconsolable, persistent
crying within 2 days
© USMLEWorld, LLC

Dlphtherla- tetanus--acellular pertussis Immunization

• Diphtheria toxoid
Components • Tetanus toxoid
• Conjugated pertussis antigen {pertactin)

• 5 do,ses given at ages:

0 2, 4 & 6 months
Schedule
0 15-18 months
0 4"6years

Co:ntraindications
• Encephalopathy after previous dose
• Anaphylaxi,s to vaccine component

• AMBOSS & UWORLD: uncomplicated seizure is not an absolute contraindication;

vaccine can be given if the condition is well controlled and stable.
o The neurological contraindications to pertussis include: unstable neurological
disorder (infantile spasm, uncontrolled epilepsy) and encephalopathy (coma,
decreased LOC, prolonged seizure).

pg. 41
 Rotavirus vaccine

Indications • Prevent most common cause of viral gastroenteritis worldwide

Specifications
• Uva attenuated ora l vaccine
• Seri:es administration between age 2-6 months

• Al lergy to vaccine ingredients

Contraind ications • Severe combined immunodeficiency
• History of intussusception

• Reactions to vaccines:
o Vaccines made from egg for example; Yellow Fever should be avoided in
those who have egg allergy. MMRV can be given to those with egg allergies
and influenza vaccines.
o Profoundly immunocompromised should not be given live attenuated. For
example; HIV, transplant patients, or on biological therapy. Careful in
pregnant ladies.
 MMRV is an example.
 Flu IM can be given but not Intranasal.
 Varicella contraindicated in pregnant women and
immunocompromised hosts.
• Nonimmune neonates and immunocompromised patients
should receive passive immunoprophylaxis with varicella
zoster immunoglobulin within 10 days of exposure.
o Normal reaction to vaccine
 Fever less than 104.
 Erythema.
 Baby consolable.
 GIVE VACCINE.
o Abnormal reaction:
 More than 104.
 Inconsolable.
 Frank anaphylaxis.
 DON’T GIVE VACCINE.
o Sickness is not a contraindication to giving a vaccine and family history.

pg. 42
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• DTaP for kids. TdaP for adults. Td is a tetanus booster.

• Tetanus:
Tetanus

Skin wound with

C/ostridium teteni
growth

---
Exocytosis proteins ~
cleaved, inhibiting
GABA. glycine release

--0--

CNS = central nervous system.

o Dirty wound.
o C/P: lock jaw and spastic paralysis.

pg. 43
 o Diagnosis is clinical.
o Treatment:
 Intubate and sedate.
 Muscle relaxants.
 Paralytics.
 IV antibiotics; give metronidazole.
o Prophylaxis:
 TdaP to adults.
 Td booster.
• At least 3 doses as an adult; one Tdap and one Td. Every 10
years.
 TIg= IVIG.

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• Diphtheria:
o C/P: fever, dysphagia, dyspnea. Because of the pseudomembrane.
o Diagnosis is clinical.
o Complication is myocarditis.
o Treatment is secure the airway. Antitoxin and IV antibiotics given.
• Pertussis:
o C/P: in adults (immunity waning).
 Catarrhal phase (infectious): nonspecific. Looks like cold.
 Paroxysmal phase: paroxysms of cough, large inspiratory efforts
(wheezing).
 Resolution phase.
o Diagnosis is clinical.
o Treatment is airway support and erythromycin.
• HPV vaccines between 9-26 in males and females to prevent cancer.
• Multiple vaccinations in a single office visit is safe and increases vaccine compliance
and optimal protection at a young age.
o Exception is live vaccines which should be administered 4 weeks apart due to
possible interference of immune response.
• Hepatitis B vaccine should not be given to infants <2000 g due to weakened
production of anti-HBs antibodies.
o They should receive their first dose when they are 1 month of age (regardless
of birth weight) or discharged from the hospital.

pg. 44
 o If mother is HepB +  give vaccine and hep B IVIG regardless of birth weight
or clinical condition.
o If mother is HepB unknown  give vaccine and check status.

Pert natal hepatitis B virus infection

• 90% risk of vertical transmission without proph,yJaxis

Eipld:emlology • <2% risk after prophylaxis
• C.hronic infection in 90% of perinatally infected infants

Risk factors • High matemal viral load

• Matemal HBeAg+

• Pe,rinata'I exposure to genital secretions (most oomrnon )

Transmi.sslon • Transplacenta'I (rare)
• Not transmitted by breastfeeding
• HBV vaccine (active immunization)
P,revention AN □

• HBIG (passive immunization)

• Safety review findings:

o No causal relationship between:
 MMR and autism, associated disorders, or inflammatory bowel
disease.
 Multiple immunizations and increased risk of immune dysfunction and
type 1 diabetes.
 Hepatitis B vaccine administration and demyelinating neurologic
disorders.
 Meningococcal vaccination and Guillain-barre.
• If travelling and did not take MMR vaccine yet since age is less than 1 year  give
an additional dose at 6 to 11 months.

Sta ndard pediatric immunizations in the United States

• Polio
In activated (kill ed) • Hepatitis A
• Infl uenza (injection)

Toxoid (inactivated
toxin)
• Diphtheria, tetanus

• Rotavirus
• Measles
Live attenuated • Mumps
• Rubell a
• Varicella

• Hepatitis B
• Pertussis
• Haemophi/us influenzaa type
Subunit/conjugate B
• Pneumococcal
• Meningococcal
• Human papillomavirus

pg. 45
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pg. 46
Disorders of growth:

Sho rt Stature
Height
Tall Stature
Disorder s of
Growth Fa ilure to thri ve

Non-organic
Weight
failure to thrive

Obesity
I

• Growth velocity: should follow a growth curve.

o Normal is 4cm/year.
• Chronological age: actual age.
• Bone age: x-ray of left hand and wrist.

Normal .Abnon,nal

ldeail Genetic:
CA BA,
Genetiic I a ilia ll short stature

a, r,onic svstc ii: disease-

BA<CA Constiitutiio ni;I I delijv E:ndoi::rin r lat d
utritiol'11al

Precocio us p ube y
Ob ih' {tall) Con,ge ital a(lr n I lhvi;ier pl,a:;.ia
Bol';,~CA,
Familial ta ll s.tature Hvperp it _1tarism
Syndromes (r.1re}

BA: Bone age

CA: Chtanolt1gical ace

Tall stature:

• Sotos syndrome:
o LGA.
o Mental retardation.
o Hydrocephalus.
o Prominent forehead.
o Epicanthal folds.
o Flat nasal bridge.
o Pointed chin.

Macrocephaly:

pg. 47
 • Above the 97th percentile.
• Most common cause is benign familial macrocephaly due to megaloencephaly
(increased brain parenchyma volume).
• Can be the presenting sign of hydrocephalus and underlying genetic disorders
(cerebral gigantism).
• Benign macrocephaly findings:
o Normal development.
o No syndromic features.
o No signs of increased ICP.
o No signs of infection.
• Do US to exclude other causes.
• Management: reassurance and continued observation.

Head circumference: 0-2 years

52
51
50
49
48
47
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:::,
42
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·;:; 40
.
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O>
::c 38
39

37
36
35
34
33
32

Birth 2 4 6 8 10 12 14 16 18 20 22 24
Age (mont hs)
C>UWorld

Microcephaly:

• Measure parental head circumference.

Nonorganic failure to thrive:

• Child not fed adequate calories.

• C/P:
o Thin extremities, narrow face, prominent ribs, wasted buttocks.
o Neglect hygiene.
o Delays in social and speech development.
o Expressionless.
o Feeding aversions.
• Kwashiorker: protein-calorie malnutrition:
o Protein and calorie.
o After weaning.
o Diagnosis: albumin and prealbumin.
• Marasmus: complete malnutrition.

pg. 48
 • Management:
o Feed under supervision for 1 week,
o Should gain >2 oz/24 hours over the week.
o Ravenous appetite.
o Careful observations of the mother.
o Delays extensive lab evaluations until after dietary management has been
attempted
o All cases caused by underfeeding from parental neglect should reported to
CPS.

Organic failure to thrive:

• Malnutrition:
o Malabsorption:
 Infection, celiac disease, cystic fibrosis, disaccharidase deficiency,
protein-losing enteropathy.
o Allergies.
o Immunodeficiency.
o Chronic disease.
• Initial diagnostic test:
o CBC.
o UA.
o LFT.
o Serum protein.
o Sweat chloride.
o Document caloric intake.
o Stool for parasites.

Obesity:

• Risk factors:
o Predisposition.
o Parental obesity and associated syndromes.
• C/P:
o Tall stature in some.
o Increased adipose tissue in mammary tissue in boys and pubic fat pad.
o Abdominal striae.
• Diagnosis:
o BMI over 95% for age and sex.
o 85 to 95 is overweight.
• Complications:
o Obese infants = obese adults.
o CVS.
o Hyperinsulinism.
o Slipped capital femoral epiphysis.
o Sleep apnea.
o Type 2 DM.
• Treatment:
o Exercise and diet.
o No medications.

pg. 49
Feeding:

• Human milk is the ideal nutritional source for full-term infants.

o Exclusive breastfeeding until the age of 6 months.
o Breast milk and solid food until the age of 1 year.
o Protein in human milk: 70% whey and 30% casein.
 Protein content is highest at birth then decreases over the first month
of life.
 Whey improves gastric emptying.
o Human milk also contains lactoferrin, lysozyme, and secretory IgA which
provides immunity.
o Less iron than most formulas but higher bioavailability.
o The main carbohydrate: lactose.
o Inadequate source of Vitamin D.
o Less calcium and phosphorus but absorbed better than any other formula.
o Iron should be supplemented until the age of 1 for preterm infants.
• Standard infant formula: cow milk protein-based.
o Used as substitute/supplement of breast milk.
o Contains 20 calories/ounce.
o Early introduction of cow’s milk  iron deficiency anemia.
• Goat milk is associated with folate deficiency.

Breastfeeding benefits & contraindications

Benefits Contraindications

• Active untreated tuberculosis

• More rapid uteri ne
involution & decreased
postpartum bleeding
• Faster return to prepartum
weight
Maternal
• Improved ch ild spacing
. Improved matern al -infa nt
bonding
• Reduced risk of breast
& ovarian cancer
(mothers may breastfeed after 2
weeks of anti-tuberculin therapy)
• Maternal HIV infection (in
developed countries wh ere
formula is readily available)
• Herpetic breast lesions
• Varicella infection <5 days prior
to or within 2 days of delivery
• Specific maternal medications
• Chemothera py or ongoing
radiation therapy
• Active abuse of street drugs or
alcohol

• Improved immunity
• Improved gastrointestinal
function
• Prevention of infectious
diseases:
o Otitis media
Infant • Galactosemia Breastfeeding contraindications
o Gastroenteriti s
• Active untreated tuberculosis
o Respiratory Illnesses
• HI V infection•
o Urinary tract infections • Herpetic breast lesions
Maternal
• Active varicella infection
• Decreased risk of
• Chemotherapy or radiation therapy
childhood cance r, type I
• Active substance use disorder
diabetes mellitus &
necrotizing enterocolitis Infant • Galactosemia

IOUWOl!d In developed countries where formula 1s readily available.

• Breast cancer is a contraindication.

• Medications:

pg. 50
 o Lithium.
o Cyclosporine.
o Amphetamines.
o Ergotamines.
o Bromocrptine.

Breast Feeding: Dirug Contraindications

lAbsolute Rela1tive
Anti neoplasics Neu roleptics
Rad iopha rmaceuticals Sedatives
Ergot alka loids Tranqu ilizers
llod ide/mercurials Metronidazole
Uthi um Tetracycline
Atrop ine Sulfonamides
Chloramphenicol Steroids
Cyclosporin
Nicotine
Alcoho l

Timeline of infant nutrition

Birth 6 month s 1 year

>!clusi v breastf ding

Introduction of lntrocfoc:lion
pure d foods of cow's milk

e uworld

• Complete weaning (introduction of new foods) by age of 6 months.

o Iron fortified cereal at 4-6 months.
o Step wise introduction of strained foods: pureed vegetable and fruits  dairy
 meats.
o Table foods at 9-12 months.
o No honey in the first year.

Introduction of highly allergenic foods*

Low risk High risk

• No lgE-mediated food allergy

• Known/suspected lgE-
Clinical • Tolerates typical first foods (eg,
mediated food allergy
features cereal, fruits, vegetables)
• Severe , refractory eczema
• ± Mild eczema, family history of atopy

• Early introduction of foods at age >4-

• Referral for allergy testing
Management 6 months
• Consider in-office feed ing
• Initial taste at hom e

*Cow's milk, egg , soy, wheat, peanuts, tree n uts & seafood.

Allergy testing:
o
 Mild to moderate  in office feeding.
 Severe (large wheal on skin)  avoid till next year.
 Iron deficiency anemia:

pg. 51
 o Doesn’t develop until 4-6 months due to robust iron stores in baby.
o Can occur earlier:
 Mother with iron deficiency anemia.
 Prematurity.
 Cow’s milk use before 12 months.
o Premature babies: iron and vitamin D supplements.
o Term babies: only vitamin D (400IU/day).
 Vitamin B12 to infants of vegetarian mothers.

Primitive reflexes:

• Moro reflex:
o Extend head  extension, flexion of arms, legs.
o Appears at birth.
o Disappears at 4-6 months.
o CNS origin: brain stem vestibular nuclei.
• Grasp reflex:
o Finger in palm  hand, elbow, shoulder flexion.
o Appears at birth.
o Disappears at 4-6 months.
o CNS origin: brain stem vestibular nuclei.
• Rooting reflex:
o Cheek stimulus  mouth to that side.
o Appears birth.
o Disappears at 4-6 months.
o CNS origin: brain stem trigeminal system.
• Asymmetric tonic neck:
o Fencing posture when supine.
o Appears at birth to 1month.
o Disappears at 4-6 months.
o CNs origin: brain stem vestibular nuclei.
• Parachute reflex:
o Simulate fall  extends arms.
o Appears at 6-8 months.
o Never disappears.
o CNS origin: brain stem vestibular.
• Placing:
o Steps up when dorsum of foot stimulated.
o Appears at birth.
o Disappears at 4-6 months.
o CNS origin: cerebral cortex.

pg. 52
 INFECTIOUS DISEASE

TORCH infections:

Key features of congenital infections*

• Chorioretiinitis
Toxoplasmosis • Hydrocephalus
• Diffuse intracranial calcifications
• Rhinorrhea
Syphilis • Skeletal anomalies
• Desquamating rash (palmslsoles)

• Cataracts
Rubella • Heart defects (eg, PDA)
• Sensorineural hearing loss

• Periventricular calcifications
Cytomegalovi ru s • Microcephaly
• Sensorineural hearing loss

Herpes simplex virus • Vesicular/ulcerative rash

"Nonspecific find ings inclu de growth restriction, jaundice, hepatosplenomegaly & bl'ueberry muffin rash .
PDA = patent ductus arteriosus.

Common sequelae of congenital infections

Infectio n Seque!lae

Cytomegalovirus • Sensorineu1ral, hearing1loss

Toxoplasmosis
• Chorioretinitis
• Obstructive hydrocephal us

Syphilis • Osteoarticular destruction (eg, Hutch inson teeth , saddle nose)

:Rubella • Cataracts
• Sensorineu1rall hearing1loss

• Congenital Toxoplasmosis:

pg. 53
 CongenHal toxoplasmosis

Maternal
• Raw or undercooked meat

risk factors
• Unwashed produ ce (ie, contaminated soiil)

• Handling of cat feces

• C lassic triad:
0 Chorioretinitis
0 Diffuse int:racran ial ca lcifications
Clin ical
0 Hydrocepha lus
features
• Microce ph aly (brain atrophy) or macrocephaly (severe hydrocephalus}
• Seizures

• Nonspecific fi ndings : j au ndice, hepatosplenomegaly, rash , growth restriction

Diagnosis • Toxoplasma serology or PCR

Treatment • Pyrimethamine, sulfadiazine , fo linic acid

Congenital toxoplasmosis vs c,ongenital cytomegalovirus

Toxoplasmosls CMV

Pathogene-sls • Maternal consumption of undercooked meat or inadvertent • Maternal contact with infected bodily fluids
ingestion of cat feces (eg, saliva)

• Choriorntinitis • Choriornti rnitis

Classic • Diffuse intraoranial caloificalio.ns • Pertventricular intracranial calcifications
features· • Macrocephaly (ie, hydrocephalus) or microoephaly • Microcephaly
• Seizures • Sensorineural hearing loss

Diag nosis • Toxoplasma serology or PCR • Urine or saliva CMV PCR

lTreaunent • Py,rimethamine,. sulfadiazine, fo.lin ic ac~d • Ganciclovir or valganoiclovir if

sym ptomalic

Chorioretinitis

• Congenital Rubella:

pg. 54
 Rubella (German measles)

• Congenital:
o Sensori neural hearing loss
o Cataracts
o Patent ductus arteriosus
Clinical presentation • Children:
o Fever
o Cephalocaudal spread of macu lopapular rash
• Adolescents/Adults:
o Same as childre n -+- artlhralg ias/arthritis

Diagnosis • Serology

Preventi on • Live attenuated rubella vaccine

o Risk of transmission is highest in the first trimester.

• Congenital CMV:

Congenital cytomegalovirus

• Most common congenital infection

Epidemiio logy • Transmission: bodily fluids (eg, urine, saliva)
• Main risk facto r: caring for young chilldren

• Growth restriction & microcephaly

Cliniical features
• Periventricular calcifications
• Hepatosplenomegaly
• Thrombocytopenia

Diagnosis
• PCR testing
• Viral culture of urine/saliva

Treatment • Antiviral therapy (eg, valganciclovir) if symptomatic

o Most common congenital infection.

o Sexual contact or organ transplant.
o C/P:
 Hearing loss.
 Seizures.
 Petechial rash.
 Chorioretinitis.
 Periventricular calcification.

pg. 55
 Congenital cytomegalovirus

• Periventricular calcifications
• Vemniculornega liy

Ultrasound fi ndings • Micmcephaly

Neonatal features
Long-term sequelae
• HIV:
• lntrahepatic calcifications
• Fetal growffli restriction
• Hydrop,s fetalis
• Petechiae
• Hepatosplenomegaly
• Chorioretin itis
• Micmcephaly
• Sensorineural hearing loss
• Seizures
• Developmental delay

HIV in infancy

Risk • High maternal viral load

factors • Breastfeeding by infected mother

• Failure to thrive
Cli nical • Chronic diarrhea
features • Lymphadenopathy
• Pneumocystis pneumonia

• DNA polymerase chain reaction testing

Diagnosis
• Persistence of HIV antibody after age 18 months

Treatment • Immediate combination antiretroviral therapy

©UWorld

o HIV infection with a high viral load necessitates C-section.

o HIV antibody screening in the first trimester for all pregnant ladies. Add
screening in the third trimester for high-risk mothers (drug abusers or multiple
sexual partners) since it takes 3 months for antibodies against HIV to develop
and be detected.
 HAART reduces incidence of vertical transmission.
o HAART immediately started after diagnosis.
• HSV 2:
o C/P:
 Meningoencephalitis. (3-4 weeks)
• Viral transmission from the olfactory bulb to temporal lobe
causes temporal lobe hemorrhage.
 Herpetic lesions. (within 2 weeks)
o Active genital herpes necessitates C-section
o Diagnosis:
 PCR.
o Treatment:

pg. 56
  Acyclovir IV ASAP.
o Outcomes: blindness, seizures, psychomotor retardation and death.
o Elective C-section if active disease.

Neonatal herpes simplex virus infection

• Vertical transmission
Pathogenesis
0 Intrauterine, perinatal!, postnatal

• Skin-eye-mouth
0 Mucocutaneous vesicles
0 Keratoconjunctivitis
• CNS
Clli nical findi ng s
o Seizures , fever, lethargy
o Tempora l! lobe hemorrhage/edema
• Disseminated
o Sepsis , hepatitis, pneumonia

• Viral surface cultures

Diagnos is
• HSY PCR (blood, cerebrospinal fluid)

Treabnent • Acyclovir

• Syphilis:
o C/P:
 Hydrops fetalis.
 Desquamating or bullous rash.
 Notched teeth.
 Saddle nose.
 Short maxilla.
 Saber shins.
 Cranial nerve 8 deafness.
 Abnormal long bone radiographs.
o Diagnosis:
 Trepenoma in scrapings.
 FTA-ABS.
o Prevention:
 Prenatal diagnosis and treatment with penicillin.
• Prevents development of late syphilis manifestations: frontal
bossing, Hutchinson, and saddle nose.

pg. 57
 Congenital syphilis
Early•
• Snuffles: copious clear, purulent, or serosanguineous rhinorrhea
• Rash : diffuse maculopapular or bullous
Clinical o Pa lms, soles, buttocks, legs usually involved
features o Desquamation & hyperpigmentation
• Long bone abnormalities (eg, metaphyseal lucencies)
Late
• Saddle nose, notched (Hutchinson) teeth, saber shins, sensorineural hearing loss

• Serologic testing: VDRL, RPR

Diagnos is
• Darkfield microscopy: Treponema pallidum in infectious material (eg , nasal discharge, skin lesions, placenta)

Treatment • Penicillin

• First-trimester maternal screening ; repeat if high risk (eg, other prenatal STI)
Preve ntion
• Prenatal penicillin

*Nonspecific findings: jaundice, hepatosplenomegaly, growth restriction , "blueberry muffin" spots .

RPR " rapid plasma reagin; STI " sexually transm itted infection.

• Parvovirus B19:
o C/P:
 Hydrops fetalis

Fetall hydrops

• t cardiac output demand causing heart failure

Pathogenesis
• t fluid movement into interstitial spaces (third spacing)
• Pericardia! effusion
• Pleural effusion
• Ascites
Clinical features
• Skin edema
• Placental edema
• Polyhydramnios

• !Immune
o Rh(D} alloimmunization
• Nonimmune
Etiology o Parvovirus B19 infection
o Fetal aneuploidy
o Cardiovascular abnormalities
o Thalassemia (eg, hemoglobin Barts)

o Viral cytotoxicity to fetal erythrocyte precursors  severe fetal anemia  high

output heart failure  third spacing  ascites and skin edema.
o Other features: placental edema, pleural or pericardial effusions.
o Undergoes serial ultrasounds and possible early delivery.
o Investigate by checking maternal serological assays for virus-specific IgG and
IgM.
• Varicella:
o Congenital:
 Limb malformations and deformations, cutaneous scars.
Microcephaly.
 Association with infection during 1-2 trimester.
o Neonatal:

pg. 58
  Treat with VZIG if mother develops varicella 5 days before to 2 days
after delivery.

Neonatal varicella-zoster Infection

Clinical • Fever
teature,s • Vesicular eruption (chickenpox)
• Systemic involvement (eg, pneumonia, hepatitis, mening.oenoephalitis)

Treatment • Acyclovir

• !Isolate infant from vanicella contact

Prevention • Administer varioella-;rnster immune globu'lin to infant if maternal infec1ion developed 5 days before or 2 days
after delivery

• Congenital Zika syndrome:

o C/P:
 Microcephaly.
 Spasticity.
 Sensorineural hearing loss.
 Retinal mottling.
o Prevention: avoid travel to endemic areas. If necessary; mosquito repellants,
mosquito nets, and long-sleeved, light colored clothing.
 Known Zika infection individuals  barrier contraception.

Congenital Zika syndrome

• Single-stranded RNA Flavivirus

Pathog enesis • Transplacental transmission to fetus
• Targets neural progenitor cells

• Microcephaly, craniofacial disproportion

Clinical features • Neurologic abnorma lities (eg, spasticity, seizures)
• Ocular abnormalities

• Neuroimaging: Ca lcifications, ventriculomegaly, cortical thinning

Diagnosis
• Zika RNA detection

• Group B strep:
o C/P of early:
 Sepsis.
 Pneumonia.
 Meningitis.
o C/P of late:
 Cellulitis-adenitis: inflammation and induration of the face and/or
submandibular area, often with associated adenopathy.
o Transmission prevented by intrapartum penicillin prophylaxis.

pg. 59
 Group B stre ptococcal infection in neonates & young1infants
1

Early onset (age <7 days) Late onset (age '?:.7 days)

• Vediical transmission in utero or during

Pathogenesis
vaginal deliivery • Hlorizontall transm ission from
• Red uced transmission with maternal colonized individuals
intrapartum antibiotic prophylaxis

Clinical • Typically presents within 24 hours • Typ ically presents age 4-5 weeks
features • Sepsis, pneumonia, meningitis • Baderernia, meniingitis, foca l
infection {eg, cellulitis)

Diagnosis • Gram-positive cocci in pairs/chains on cu liture of blood , CSF, or body flluid

Treatment • Early initiation of empiric antibiotics
• Definitive therapy witfh penicillin G
CSF = cerebrospinal flu id.

• Neonatal listeriosis:
o Use of unpasteurized milk during pregnancy.
o C/P:
 Neonatal sepsis.
 Granulomatosis infantiseptica.

Neonatal sepsis:

• Sepsis in most term infants is caused by GBS and preterm infants is caused by E.
coli.
• Risk factors:
o Prematurity.
o Chorioamnionitis.
• Common organisms:
o GBS; can be acquired vertically (intrapartum) or horizontally (unwashed
hands or person to person).
o E. coli.
o Listeria monocytogenes.
• Diagnosis:
o CBC: neutrophilia with significant left shift indicates neonatal sepsis.
o CXR.
o Blood cultures.
o CSF cultures.
o Urine cultures.

pg. 60
 o Stool cultures.
• Empiric treatment with ampicillin (covers GBS and L monocytogenes) plus
gentamicin (E. coli).
o Acyclovir (HSV) is often added.

Neonatal sepsis

• Group B Streptococcus
Etiology • Escherichia coli
• Listeria monocytogenes (age <7 days)

• Temperature instability (fever or hypotherm ia)

• CNS signs (eg, lethargy, irritability, apnea)
• Poor feeding
Clinical features
• Respiratory distress (eg, tachypnea, gru nting)
• Jaundice
• Abnormal leukocyte count {high or low); bandemia

Diagnosis • Blood, urine & cerelbrospinal flu id cu ltures

Treatment • Parentera l antibiotics (ampicill in & gentamicin)

CHnrca'I numlfesla ons of neo:nalal s,epsls

(1lnclmHng rne J

1 · ,( r >3BC 1[100_4 'F]

Present In C ,(96_8 Fl
>60% ,o f
,caa s •
• m

PN nt n
H 50%,o f
,ca es

l)IJWork:I

pg. 61
 EAR, NOSE, AND THROAT:

Common cold:
• Rhinovirus.
• Spread by air droplets.
• C/P: congested, bilateral clear rhinorrhea that is copious.
• Clinical diagnosis.
• Treatment is supportive.
• Recurrent: do a CT scan. Consider foreign body.

Adenovirus:

• C/P:
o Coryza.
o Pharyngitis.
o Tonsillitis.
o Conjunctivitis.
 C/P:
• Red.
• Watery discharge.
• Pre-auricular LDN.
• Low-grade fever.
• Corneal inflammation.
 Self-limiting.
o Fever.
o Headache.
o Malaise.
o Abdominal pain.

pg. 62
Pharyngitis:

• CENTOR criteria not reliable in preadolescents.

o Those who fulfill Centor criteria  empiric antibiotic treatment.

Evaluati on & management of pharyngitis

Centor criteria
• Fever by history
• Tender anterior cervical lymphadenopathy
• Tonsillar exudates
• Absence of cough

0-1 present 2-3 present 4 present

No testing/treatment Rapid Empiric oral

for streptococca l streptococcal penicillin or
infection antigen test amoxicillin

Oral penicillin or amoxicillin

fo r positive results
© UWorld

Evaluation of acute pharyngitis in children

Viral symp,toms present

(eg,, cough, conjuncUviLis, oral ulcers)

No

Rapid s1reptocoocal nll!)en 1esting

NegalJve Posi~Vlt

Vlral egativa Poslllve Stteptococeal

Thr,oa · cullur • - - - -•
pl\uynglt:l:s pharyngitis

l
Suppol1ive car Oral peniCillin
or amoxfctl n

• ASO titers peak 1 month after infection and not helpful in determining acute
pharyngitis.
• Can be associated with scarlet fever.
• Strep pharyngitis treatment:
o No empirical treatment for preadolescents; reserved for proven cases.
o Antibiotics for 10 days: amoxicillin or penicillin.

pg. 63
  If allergic  azithromycin.

Infectious mononucleosis:

lnrectlous moo omucieosls

Etlology . Epste[n.Barr virus most common

. Fever
.•
iom,lllilislr>haryngitis .±. exud ates
Posterior o r ,d iffuse c1m1i:cal l ymphaden□pa~hy
,cI1n,ical features
. Significant laligue
. ± Hepatooplenomegaly
• ± Rash after amox1clllln

• Pos live heterophite arntibody ,(Mornospot) test (25% talse,nega:tlve rate durirng 1st wee of Lllness)
Diagnostic findings • Atypical ly mphocyt□s is
• ii:ansiant hepatitis

Managememt • Avoid sports for ~3 weeks (conlaci s,ports ~4 ~111eeks) due to lhe risk of sptenic iupl.ure

• Acute onset of mouth breathing indicates impending upper airway obstruction.

o Treatment: IV corticosteroids.
• CMV can cause similar manifestations but with negative heterophile antibodies.
o Diagnosed by CMV IgM.
• Complications of IM:
o Cold autoimmune hemolytic anemia and thrombocytopenia.
 2 weeks after onset of IM.
o Splenic rupture.
 Follow up with US to rule out splenomegaly after a couple of weeks
and to resume activities.

Infectious mononucl eosis

• Fever
• Tonsillitis/pharyng itis ± exudates
• Posterior or diffuse cervical lymphadenopathy
Clinical features
• Significant fatigue
• ± Hepatosplenomegaly
• ± Rash after amoxicillin

• Acute airway obstruction

Complications • Autoimmune hemolytic anemia & thrombocytopenia
• Splenic rupture

pg. 64
 n eh ldre11

,t. : oo an •rlcir ml.lOOSE

loo'Loogue)
·•
J'N!i'ljlll'!t
11! ·o r ~
.. ever

gin
•
<I!

•l!i

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lnul~111
m ·emu _-IM)a,h1 ·•
Cl~

Coxsackie A virus:

• C/P: Hand-foot-mouth disease.

o Oropharyngeal lesions and sore throat. (herpangina)
 Oral ulcers.
o Maculopapular rash and partially vesicular on hands and feet.
• Clinical diagnosis.
• Supportive treatment.
o Analgesia and oral hydration for herpangina.
• No vaccine.

Herpangina versus herpetic gingivostomatitis

Diagnosis Herpangina Herpetic gingivostomatitis

Etiology Coxsackie A virus Herpes simplex virus type 1

Age 3-10 years 6 months-5 years

Seasonality Summer/early fall None

• Fever
• Fever • Pharyngitis
Clinica l • Pharyngitis • Erythematous gingiva
featu res • Gray vesicles/u lcers on • Clusters of sma ll vesicles
posterior oropharynx on anterior oropharynx

Treatment Supportive management Oral acyclovir

~ UWorld

pg. 65
 Herpangina

OUWond

Retropharyngeal abscess:

• Pre-existing upper respiratory infection  direct spread of bacterial infection from

pharyngitis, tonsillitis, otitis media, or sinusitis.
o Can also occur due to spread of acute osteomyelitis of the cervical spine.
• Abscess is usually polymicrobial; Staph aureus, strep pyogenes, and anaerobes.
• C/P:
o Fever.
o Toxic.
o Odynophagia/dysphagia.
o Drooling.
o Neck stiffness and asymmetry
 Inability to extend the neck.
o Anterior chain LDN.
o Hot-potato voice.
o Trismus.
• Diagnosis:
o X-ray: widened prevertebral space  first test.
o CT scan if no respiratory compromise  best test.
• Treatment:
o Endotracheal intubation.
 Not possible  emergent tracheostomy.
• Surgical cricothyroidotomy is preferred but should be
converted to tracheostomy in 5-7 days if prolonged airway
control is needed.
o IV antibiotics.
o Surgical drainage.
• Complications:
o Airway compromise.
o Bacteremia.
o Carotid artery rupture.
o Jugular venous thrombosis and deficits in cranial nerves IX, X, XI, and XII.
o Acute necrotizing mediastinitis:
 Extension through the alar fascia into the “danger space” can rapidly
transmit infection into the posterior mediastinum.
 C/P:
• Fever.
• Chest pain.

pg. 66
 • Dyspnea.
• Odynophagia.
 Treatment: early surgical intervention.
• Decreased risk after 6 years due to fewer viral URTI and regression of
retropharyngeal LNs.

Normal lateral
neck x-ray

Normal
prevertebral
+ pace
Epiglottis

Trachea

Peritonsillar abscess: “quinsy”

• Oral flora.
• More than 10 years.
• C/P:
o Fever.
o Hot-potato voice.
o Uvular deviation.
o Trismus (lock jaw).
• Clinical diagnosis.
• Main complication: acute necrotizing mediastinitis (widened mediastinum)
• Treatment:
o IV antibiotics.
o Surgical drainage.
Peritonsillar abscess

Clinical features
Fever
Sore throat , difficulty swallowing
Tri smus
Muffled "hot potato" voice
Uvula deviation away from enlarged tonsil
Pooling of saliva

Tonsillectomy and adenoidectomy:

pg. 67
 • Adenoid hypertrophy is the hyperplasia of the pharyngeal tonsils and the MCC of
nasal obstruction in children.
• Indications:
o Tonsillectomy: recurrent infections and unilateral enlarged tonsil.
o Adenoidectomy: recurrent/ unresponsive infections and chronic adenoiditis or
sinusitis.
o Both: OSA and upper airway obstruction.

Croup:

Croup (laryngotracheitis)

I Pathogenesl:s
I Parainfluenza viral infection of the larynx & trachea
• Age 6 months to 3 years
Epldemlol'ogy
• Fa'll/early winter

• lnspiratory strider
Clinical
• Barking cough
features
• Hoarseness

• Mild (no stridor at rest): Humidified air ± corticosteroid s

Treatment • Moderate/severe (stridor al rest): Corticosteroids + nebuliz ed
epinephrine

• Handwashing
Prevention • Decontam ination of surfaces
• Ensure proper ventilation

• Racemic epinephrine  reduces edema by constricting arterioles in the upper

airway.
• X-ray shows steeple sign; confirms the diagnosis.

Tracheitis:

• MCC staph aureus.

• Average: 4 years.
• C/P:
o Viral prodrome.
 Can occur after croup.
o Biphasic stridor
o Croup that doesn’t improve on racemic epinephrine.
o More toxic; higher fever and leukocytosis.
o Lack of drooling and dysphagia (vs epiglottitis).
• Diagnosis with endoscopy and tracheal culture.
• Treatment: IV antibiotics.

Epiglottitis:

pg. 68
 Epiglottitis

Microbiology • Haemophilus influenzae type b

• Distress (tripod position, sn iffing position, stridor)

• Dysphagia, dysphonia
Clinical features
• Drooling
• High fever

X-ray • "Thumbprint sign" (enlarged epiglottis)

• Endotracheal intubation
Management
• Antibiotics

Prevention • Immunization

• Hyperextend the neck and maintain tripod position to maximize airway diameter.
• Hot potato voice:
o Epiglottitis.
o Retropharyngeal or peritonsillar abscess.
• Clinical diagnosis.
• Best initial test  laryngoscopy.
• Antibiotics: 3rd generation cephalosporins or ampicillin/sulbactam.
• Avoid IV line placement since it causes agitation and worsens airway compromise.
Tripod positi on & eplglottilis

Key respiratory tract Infections In children

Diagnosis Class ic pathogen Presentation

Laryngotracheitls (c,roup) • Parainfi uenza virus

.
• Age 6 months to 3 years
Barking cough, stridor, hoarseness

Eplg lottitls • Haemophi/us inlluenzae • Unvaccinated ch ildren

• Sore th roat, dysphagia, drooling, tripod position

• Age <2
Bronchl olltls • Respiratory syncytial v irus
• Wheezing, coughing
-

Bordetella pertussis:

pg. 69
 Pertussis

• Cata1rrhal {11-2 weeks): mild cough, rhiniti s

Clinical! • Paroxysmal (2-6 weeks): cough with inspiratory whoop, posttussive
phases emesis; infants: possiible apnea
• Convalescent (weeks to months): s~ptoms resolve gradualliy

Diagnosis • Pertussis culture or PCR

• Lymphocyte-predominant leukocytosi s
Treatment • Macrolides

Prevention • Acel lular pertussis vaccine

• Suspected pertussis in an infant: empirical macrolides.

• Subconjunctival hemorrhages due to increased intraorbital pressure.
o Other complications: pneumothorax, epistaxis, or abdominal hernias.
• 5 DTaP in infancy and childhood. A TdaP booster during adolescence (11-12) and
during each pregnancy.
o Adults are at risk due to waning immunity if did not take TdaP booster.
• Postexposure prophylaxis for all contacts despite immunization status.
• Respiratory isolation is necessary during the first 5 days of antibiotic therapy.
• Hospitalization is indicated in infants <3 months (due to risk of apnea) or patients
with severe paroxysms that impair feeding or complicated by pneumonia, seizures or
other comorbidities.

Pertussis postexposure prophylaxis

• Close contact (eg , household members, direct contact

Ind ications (regardless with secretions) with symptomatic patient
of vaccination history) • High-risk patients, even with limited exposure
(eg, pregnant, infant, immunodeficient)

• Age <1 month: azithromycin

Treatment • Age ~1 month: azithromycin , clarithromycin , or
erythromycin

Acute otitis media:

• Triggered by viral upper respiratory infection.

• Microorganisms:
o Strep pneumonia.
o H influenza.
o Moraxella Catarrhalis.
• Children are more affected due to narrower eustachian tube.
• Otoscope: bulging of tympanic membrane on pneumatic insufflation, which reflects
middle ear effusion. TM erythema and fever are also common.
• Treatment:
o Initial: amoxicillin.
o Second line: amoxi-clav.
o Indications:
 Infants <6 months and >6 months if there is a high fever, severe pain,
and bilateral manifestations.

pg. 70
 Myringotomy and tympanostomy tube placement considered in recurrent
o
AOM; 3 or more episodes within 6 months or 4 or more episodes within 12
months.
• Complications include:
o Hearing impairment when recurrent.
o Facial nerve palsy.
o Mastoiditis.
 C/P: persistent or recurrent symptoms after initial improvement,
profuse discharge, tender and edematous mastoid, and anterolateral
protrusion of the ear.
 Clinical diagnosis.
• Do CT scan of temporal lobe.
 Surgical drainage is treatment.
• Tympanostomy for early stages and mastoidectomy if no
improvement.

Mastoi ditis

• Infection of the mastoid air cells

Pathophysiology • Complication of acute otitis media
• Most comm on ly due to Streptococcus pneumoniae

• Fever & otalgia

Clinical fin dings

• Inflammation of mastoid
• Protrusion of the auricle
• Opacification of mastoid air cells on CT scan or MRI

Management
• Intravenous antibiotics
• Dra inage of purulent materi al (eg , tympanostomy, mastoidectomy)

• Extracranial extension (s ubperiosteal abscess, facial nerve palsy, hearing loss,

Complications labyrinthitis)
• lntracranial extension (bra in abscess , meningitis)

o Labyrinthitis.
o Tympanosclerosis.
o Cholesteatoma:
 Secondary to chronic middle ear disease.
 Retraction pocket in the tympanic membrane, fills with granulation
tissue and debris.
 Complications:
• Hearing loss. (MCC)
• Cranial nerve palsies.
• Vertigo.
• Life-threatening infections such as brain abscesses or
meningitis.
 CT and/or surgical visualization to confirm the diagnosis.
o OM with effusion can be distinguished from acute OM by the lack of acute
inflammatory signs.

pg. 71
 DifferenHal diagnosis of otalgia
Dla,g nosls Clin ical features

Acute otlitt s Middle ear effusion pl:us acute eardrum

1media. infla mmation (eg, b ulgrng ea rdrum, fever)

Otltls media Middle ea r effu sion without

with eff,ualon acute innammalion

Bulloua onlhe
myrlngl.tla

Cerumen1 rd waic. in uditory c nal

Impaction r<J'rum vi ualizotion

li-lemotympanum

Otitls P • in with traga l Ir etlon, JY!hernatous &

extema swo11 · n axiom · t auditory ca n I +-/- olorrhea
OUSMLEW<,,ld, UC

Otitis externa:

• Clinical diagnosis.
• Treatment: do nothing, resolves spontaneously. If it doesn’t, then start using
eardrops; ciprofloxacin or steroids.
.

Otitis externa

• Water exposure

Risk factors
.
• Trauma (eg, cotton swab)

. Foreign material (eg, hearing aid, headphones)

Dermatolog ic cond itions (eg, eczema, contact dermatitis)

Microbiology
.
• Pseudomonas aeruginosa
Staphylococcus aureus

.
• Otalgia, pru ritus, discharge, hearing loss
Clinical manifestations
. Pain with auricle manipulation
Ear canal erythema, edema, debris

. Remove debris
Treatment • Top ical antibiotic (eg, fl uoroquinolone)
• ± Topical glucocorticoid

Acute bacterial rhinosinusitis:

• Most cases of rhinorrhea and nasal congestion is due to viral infections. Most
common predisposing factor for ABRS.
o Treatment is follow up.
• Most common organisms:
o Streptococcus pneumonia.
o Moraxella catarrhalis.
o Non-typeable Haemophilus influenza. (MOST COMMON CAUSE)

pg. 72
 o Pseudomonas aeruginosa is common in nosocomial infection, especially in
the immunocompromised with tubes and catheters.
o Staphylococcus aureus is a cause of chronic not acute bacterial
rhinosinusitis.
• Clinical diagnosis.
o If patient develops signs of periorbital edema, vision abnormalities, or altered
mental status  CT scan.
• Treatment: oral amoxi-clav. Corticosteroids can be adjunctive.
o Indications of antibiotic:
 Temperature >38.4.
 Facial pain.
 >10 days.
 Double worsening.
• Chronic (>3 months): broad spectrum, ENT referral.

Diagnostiic features of acute bacterial rhinosinusitis

• Persistent symptoms ~ 10 days without improvement

OR
• Severe symptoms, fever~ 39 C (102 F), purulent nasal
discharge, or face pain ~ 3 days
OR
• Worsening symptoms ~ 5 days after initially improving v iral
upper respiratory infection

~ UWO!ld

EYE:

Preseptal vs orbital cellulitis:

• Mild infection of the eyelid anterior to orbital septum is preseptal cellulitis.

• Serious infection posterior to orbital septum is orbital cellulitis.
• Both caused by local trauma (insect bite or wound) or extension from another source
of infection.
• Bacterial sinusitis is the most common cause of orbital cellulitis.
• Most common organisms: strep pneumonia, staph aureus and other streptococcus.

Preseptal vs orbital cellulitis

Preseptal
Diagnosis Orbital cellulitis
cellulitis

• Eyelid • Symptoms of preseptal cellulitis

Clinical erythema & PLUS
features swelling • Pain with EOM, proptosis &/or
• Chemosis ophthalmoplegia with diplopia

• Oral • Intravenous antibioti cs

Treatment
antibiotics • ± Surgery

pg. 73
 Orbital cellulitis
I I
• Local infection (eg, sinusitis, dental
Risk factors infection , skin infection)
• Orbital trauma

• Painful eye movements

• Ophthalmoplegia
Clinical signs
• Proptosis
• Visual changes

• Clinical
Diagnosis
• CT scan if diagnosis is uncertain

• Intravenous antibiotics
Treatment
• Surgical drainage for abscess

• CT scan in the case of orbital cellulitis to check the spread of infection and for
abscesses.
• Preseptal  outpatient oral antibiotics; 1st generation cephalosporin.
• Orbital  inpatient IV antibiotics; ampicillin + sulbactam.
• Complications of orbital cellulitis: due to valveless ophthalmic venous system.
o Cavernous sinus thrombosis.
 C/P:
• Headache.
• Periorbital edema.
• Exophthalmos.
• Chemosis.
 Fundoscopy: papilledema and dilated tortuous retinal veins.
 Involvement of cranial nerves (3 to 6).
o Subperiosteal abscess.
o Blindness.
o Intracranial infection.

Trachoma:

• Chlamydia Trachomatis serotype A to C.

• Affects tarsal conjunctiva
• Active phase: follicular conjunctivitis and neovascularization of cornea.
• Repeated or chronic infection: scarring of the eyelids and inversion of the eyelashes
(trichiasis).
• Major cause of blindness worldwide.
o Over time, the lashes rub on the eye and cause ulcerations and blindness
(cicatricial trachoma).
• Diagnosis by Giemsa stain of conjunctival scrapings.
• Treatment:
o Topical tetracyline and oral azithromycin.
o Eyelid surgery in the case of trichiasis.

Hordeolum:

• Acute purulent inflammation of the eyelid.

pg. 74
 • MCC is staph aureus.
• Two forms:
o External hordoleum or stye arises from the glands of Moll or glands of Zeis.
o Internal hordoleum is an inflammation of the meibomian gland, most typically
at the palpebral conjunctiva.
• Resolves in 1-2 weeks.

Blepharitis:

• Red and swollen eyelids and crusty, scaly plaques or oily deposits on the eyelid
margins.
• Causes recurrent symptoms of inflammation of the bilateral eyelids (pain, pruritis)
and irritation of the eyes (excessive tearing, foreign body sensation).

Chalazion:

• Chronic granulomatous inflammation of the meibomian gland.

• Slowly progressing, rim, rubbery, and nonpurulent nodule on the eyelid.
• Presents as heaviness of the eyelid.

RASH:

Chicken pox:

• Aerosolized transmission with 2-week incubation.

• C/P:
o Prodrome: fever, myalgias, and malaise.
o Pruritic vesicles appearing in various stages.
• Complication:
o Bacterial superinfection in children.
o Pneumonia in adults.
o Acute cerebellar ataxia.
o Immunocompromised at risk of disseminated disease.
• Treatment:
o Supportive.
 Pruritis  calamine and pramoxine gel.
o Unless it’s a primary infection in an adult or unvaccinated adolescent >13
years or immunocompromised or long term salicylate treatment (risk of reye
syndrome)  acyclovir.
• Postexposure prophylaxis:
o Indications:
 Incompletely immunized age >1 year.
 Immunocompromised or pregnant.
 Neonates (after neonatal period  no need).

pg. 75
 Vanicella

Epidemiology
• Primary infection (ie, chiokenpox} with varicella--zoster virus
• Transmission via diirect contact or aerosol droplets

• Prodrome (eg, fever, malaise)

Clinical! • Pruritic maculopapular rash followed by successive crops of vesicles in different
features stages
• Mild in chi ldren, more severe in adolescents/adults

• Supporli1ve (eg , antihistamines}

• Antiviral therapy (eg, acyclovir)
Treatment 0 Ado Iescents/adu Its
0 lmmunocomprom ised
0 Complicated disease (eg, encephalitis, pneumonia)

Prevention • 2 doses of varicel la-zoster viirus vaccine (ages 1 & 4)

~
' J ,l
"I l1m_

IJva IVZJGII

Vaccine-strain versus wild-type varicella

Vaccine strain Wild type

• <10 lesions • >1 00 lesions

• Maculopapular &/or vesicular • Vesicular in successive crops
• Mildly contagious • Highly contagious

Scarlet fever:

• Group A strep pyogenes.

• Erythrogenic exotoxin.
• C/P:
o Prodrome: fever, chills, toxicity, abdominal pain and pharyngitis.

pg. 76
 Sandpaper like rash all over the body.
o
 Starts at the face, axilla and groin.
 Covers entire body in 24 hours.
o Strawberry tongue.
o Circumoral pallor.
• Diagnosis:
o Rapid strep test.
o Throat culture.
• Treatment: Penicillin V.
o Erythromycin, clindamycin and first generation cephalosporins for
penicillin allergic people.

Scarlet fever

Ellology • Streptococcus pyogenes

• Fever & pharyngitis

Clinical features .
• Tonsillar erylhema & exudales
Strawberry tongue
• Tender anterior cervical nodes
• Sandpaper rash

Diagnosis • Rapid streptococcal antigen test

• Throat culture

Treatment • Penicillin (eg, amoxioillin)

Staphylococcal scalded skin syndrome:

Staphylococcal scalded ski n synd rome

Pathoge nesis • Staphylococcus aureus exfoliative toxin

• Fever, irritability
Clinical
• Generalized erythema, blisters
features
• Epidermal shedding (Nikolsky sign)

• Antistaphylococcal antibiotic
Management (eg, nafcillin, vancomycin)
• Wound care

• Exfoliative toxin producing strains of Staph Aureus.

o Cultures are negative because its toxin mediated.
• Resolves in 1 to 2 weeks.
• Usually affects children less than the age of 10, also immunocompromised and
kidney disease patients.
o In kidney disease patients due to impaired renal clearance of the exfoliative
toxins and lack of circulating antitoxins.
• Treatment:

pg. 77
 o Supportive care.
o Nafcillin, oxacillin and vancomycin.

Measles:

M'easles (rubeola)

Clln lcal
. Prodrome: Fever, malaise , <.onjunctivitis, ,coryza, ,cough, :t Koplik spots

presentation
• Exanthem: Bla nching, re ddish -brown , maculopa pular or morbilliform ra.sh with
oe phalocaudal & centrifugal spread {usually spares palms/soles)

. Polymerase chain reaction

Diagnosi,s
. Anti-meas les lgM & lgG (acute & convalescent)

Prevention • Live attenuated measles vaccine

Treatment . Vitamin A for severe cases

.
. Olili s med ia

Complications . Pneumonia
Neurologic : Encephalitis (with in days), acute disseminated encephalomy elitis
(with in weeks), SS PE (within years)
. Gastroenteritis

• Transmitted by droplets that can remain airborne  airborne precautions.

• Most infectious during prodrome.
• SSPE:
o C/P:
 Dementia.
 Myoclonus.
 Epilepsy

Post exposure measles immunization

Age Post exposure management

0-6 m otning, un less mot ne r is
nonimmu ne {t hen lg)
6-12 m lg plus vacc ine
>12m Vaccine on ly w ithi n 72 hou rs of
exp osu re
Pregnant/imm unoco mpromi se di lg onl y

Rubella: “German measles”

• C/P:
o Prodrome: generalized and pre-auricular tender lymphadenopathy.
o Fever and rash.
 Rash on face, spreads to legs and arms.
o Forchheimer spots: petechiae or erythematous papules in the soft palate.
• Supportive treatment.

pg. 78
 • Prevention: MMRV.

Rubella {German measles)

• Congenital:
o Sensorin.eural lhearing loss
o Cataracts
o Patent ductus arteriosus
Clinical presentation • Children:
0 Fever
o Gephalocaudall sp~ead of maculopapular rash
• Ado!lescents/Adults:
o Same as children .. artllralgiaslarthriti s

Diagnosis • Seroogy

Prevention . Live attenuated rubella vaccine

Roseola infantum:

• Caused by HHV-6.
• Primarily affects infants and young children.
• C/P:
o 3-day high fever.
 Tonic-clonic febrile seizure.
o Followed by blanching maculopapular, nonpruritic rash.
o Cervical and/or occipital LDN.
• Symptomatic treatment.

Rocky mountain spotted fever:

• C/P:
o Rash starts on the wrist and ankles then spreads to body and the palms and
soles.
• Treatment:
o Doxycycline for 5-7 days.

pg. 79
 SKIN:

Impetigo:

• Risk factors:
o Warm and humid climate.
o Poverty/crowding.
o Poor personal hygiene.
o Pre-existing skin trauma/inflammation (insect bite or eczema).
• Prevent spread of infection by oral hygiene.

Impetigo

Type Nonbull ous Bullous

• Staphylococcus aureus
Microbiology • Group A Streptococcus • Saureus
(S pyogenes)

• Enlarging, fl accid bullae with

• Papules & pustules with yellow flui d
Clinical features
honey-crusted lesions • Ruptured lesion s with a
collarette of scale at periphery

• Topical antibiotics
Treatment • lif extens ive , ora l antibiotics • Oral antibiotics
(eg, ce pha lexin)

• Complication of Group A strep impetigo: glomerulonephritis.

o Order ASO titers.

Ecthyma:

• Streptococcal skin infection related to impetigo.

• C/P:
o Round erythematous plaques that present acutely.
o Pustules and small ulcers.

Erysipelas:

• Commonly caused by Group A strep.

• Well demarcated, red, indurated, warm, tender plaques.

Tinea capitis:

pg. 80
 Tinea capitis

. Most common in African American children

Epidemiology • Transmi ssion via direct contact or from fomite (eg , sha red
combs)

• Scaly erythematous patch with hai r loss on scalp

Clinical
• ± bllack dots in affected area
features
• ± tender lymphadenopathy

Management • Orall griseofulvin or terbinafine

• Trichophyton tonsurans is the microorganism responsible.

• KOH examination of the hair shaft to confirm the diagnosis.

Tinea corporis:

Tlnea1oorpor11s, (ringw,orm)

• Athl tGis Wh h v, ct
• Humid environ _ .
• ,- ont . ct \Nith infecte ·

i
Pr,e-enliltlon
•

Tr m, .nrt
• . eoond-lm /,_ xL n_i n1ltfu 111
,gn oful111n)

• Clinical diagnosis but skin scraping and KOH are confirmatory for atypical or
refractory cases.

Tinea versicolor:

• Commonly caused by Malassezia globose.

• C/P:
o Abnormal pigmentation.
o Fine scales.
o Pruritis.
• Diagnostics:
o KOH of skin scrapings.
 Hyphae and yeast cells in a spaghetti and meatballs pattern.
o UV wood lamp.
• Treatment:
o 1st line:

pg. 81
  Topical antifungals; ketoconazole, terbinafine, or selenium sulfide.
o Oral antifungals.

Vibrio vulnificus:

• Swimming in brackish water.

• C/P:
o Cellulitis.
o Sepsis with hypotension.
o Bullous skin lesions.

Cat bites:

Cat b'" tes

Mlcrob o1ogy
• P st 1Jreft multocid
• An ___ hie baot_na

• · opious irrigation & cleaning

• rophylactic ,- rnoxic1llini cla1vul nate
M .n.agement
• Teilanu boo t a:s indicate
• Avot closure,
O UWOl1d

 Cat bites are more dangerous than human and dog bites as they have sharper teeth
and can inoculate oral flora in the deeper tissue.
o Dog bites do not need antibiotic prophylaxis.

Common insect bites/infestation:

pg. 82
 Common insect biiteslinfestat1on

Insect

Bool b1.1 g P r :rdic, sma □ puncia & rnaculopa.p ulos in

Ii11e.ar gro ps ("breakfast, lunch , dinner"
patte ) on unclollhed skin

Pedlculos.is Widespre d it l'ling of 1 , bod~, or geni r. lia I

wilh vi ible lou;se

Pr ritic bllrrows or h emonh~ic crusts ·

irntertnigtlilOUS areas

Spider Solital)I' p pule, pustul8•, or Ykle I /- prulitus

Tick Painless red papule J- pmmus during the

spnng & ~ummer

"&xn9 pallanb; ha'l'!B no symplom5

IC I.IWt.!!1 d

Scabies:

Sca:bles

Pathogenesis
. Ss ,:oopfes scsbi9i mite infe:staUon
• Spread by direct peraon-1:erperson contact

• Extremely prurmc pathognomonic burrows a, sm;1I1, erythematous p;1pu1n

Cli11ii;al featu'°"
. Rash located on interdlgital web spaces, flexor wrists, extensor elbows, axi lla.e, umbillcus & geni!alta
• Topical 5% permethrin
T,eatmellll: OR
. Orall iivermeciin

• Pruritis worse at night.

• Diagnosis: local microscopy.

pg. 83
 • Bedding and clothing should be cleaned and kept away for 3 or more days since the
organism can only live away from the human body for 3 days.

Pediculosis capitis: (head lice)

• Pruritis of the scalp with visible nits.

• Treatment: ivermectin and observe close contacts.

Bed bugs:

• Hides in the seams and folds of the old furniture.

• Comes out at night to feed and then back to their hiding place.
• Transmission:
o Physical living space.
o Colonized objects.
• C/P:
o Small, punctate lesions.
o Central hemorrhagic punctum; salivary proteins of the bedbug can
inhibit coagulation.
o Linear tracts or clusters.
o Not present on palms and soles due to thick skin.
• Treatment:
o Supportive: topical corticosteroids and oral antihistamines.
o Definitive: eradication of bed bugs; insecticides or high heat.

Chiggers:

• Small mites.
• C/P:
o Intensely pruritic, erythematous papules on exposed areas (waistline, ankle).
• Found outdoors.

pg. 84
 BRAIN:

Meningitis:

Cal!lses of m.em Ing ttls In chlldrem

• Gmup B strepfoc-occus
<1 month • Escherichia coli & ofheir gramr'negative bacte,Jiia

• Listeria monocytogenes

• He,ripes simplex vims

2:1 montri • streptococcus pneumooiae

• Neisseria meningitidis

Bacterial meningitis in ch il dre:n (age >1 mo:nth)

Etiology • Streptooocous pneumoniae

• Neisseria meningiticJi.s

• Fever
Cllnic,al • Age <1; bulging fontanelle, inritability, poor feeding
features • Age >1: signs of increased IGP (eg , headaohe, vomiting),
meningeal signs (eg, 11uohal rigidity)

Diagnosis • Cerebrospinal fluid culture

• Vanoomycin + ceftniaxo.ne (or cefotaxime)

Treatment
• ± Dexamethasone

• Intel lectua'lfbehavioral disa'bil ities

Compllcatlons • Hearing loss

• Cerebral pa'lsy
• Epilepsy

pg. 85
 Bacterial menilnglltls In chlldr,en age >1 month

• Fm,er
• Vomiliing/poor feeding
C ll n lca'I • Seizures
features ii AHered roonla'I status (eg, lethargy, irritability)

• Nuch . I ri ldity Kemig • Bru ' ski slgns

• B'u I nt rior rontanell

• CB -1- Clroiyt- -
Worikup B1ood cu ltures
,ii

• LP & C F sludie

lndlc _tlon • Hi tory of hydro pll lu or n urosur ic: I proo du

tor 1m,ag1l1ng • Hi tory of h d tr1 um
prior to, 111.P • Como or foca1 nour logic 1n in

iiI trav ·nous v n,c •mycln ceflrl xone

OR · fota Im ·
Treatment
• De - methason - for H -mophirus fnflu n. - · tYPG b
maningills

OBC" ~ - ,blog,d eo!lll; C .•"' ~pln.!l l!uidi

C) World

• MCC bacterial meningitis is Neisseria meningitides in children (3 months to 10 years)

and young adults (>11 years).
o Quadrivalent meningococcal vaccination should be administered at age 11-12
followed by the booster dose at age 16.
o Children with asplenia, HIV, and complement deficiency may be vaccinated
as early as age 2.
• Waterhouse-Friderichsen syndrome:
o Sudden vasomotor collapse and skin rash (petechiae and purpura) due to
adrenal hemorrhage.
o Can lead to DIC.
o Meningococcemia associated.
• MCC bacterial meningitis is GBS in neonates.
• Neonatal meningitis C/P:
o Cardiopulmonary instability.
o Neurologic decline.
o Complications:
 Communicating hydrocephalus.
• Viral meningitis:
o Caused by non-polio enterovirus such as coxsackie and echovirus.
o Might be associated with fever, rash and herpangina.
• Tuberculous meningitis:
o Lingers for weeks with regression of milestones.
• Complications:
o Hearing loss (with H flu).
 Give dexamethasone.
 Most common long-term sequela of bacterial meningitis.
 Due to inflammation of the cochlea, cranial nerve 8, and labyrinth.
 All children should undergo audiological testing.
o Seizures.
o Mental retardation.

pg. 86
 o Loss of cognitive functions due to damage of neurons in hippocampus.
o Spasticity or paresis.
• Management:
o IV antibiotics before LP if critically ill such as status epilepticus or
hypotension.
o Otherwise LP then IV antibiotics.
 Bulging fontanelle serves as a pop-off valve to reduce ICP so there is
no risk of herniation.
o Antibiotics are third generation cephalosporins (cefotaxime or ceftriaxone),
vancomycin, and ampicillin (for listeria).
 Cefotaxime preferred since ceftriaxone associated with unconjugation
thus increased risk of kernicterus.
 More than 1 month  ceftriaxone.
 Add dexamethasone to decrease risk of hearing loss, particularly
when H influenza is involved.
 Ampicillin added for those >50 years.
 Cefepime for the immunocompromised.
 <1 month: cefotaxime, ampicillin, and gentamicin.

Cerebrospinal fluid analysis

WBC count
Diagnosis Glucose (mg/dl) Protein (mg/dl)
(cells/µL)

Normal 0-5 40-70 <40

Bacterial meningitis >1 ,000 <40 >250

Tuberculosis meningitis 5-1,000 <10 >250

Viral meningitis 100-1 ,000 40-70 <100

Guillain-Barre 0-5 40-70 45-1 ,000

Bacterial meningitis

Risk group Common organisms Empiric antibiotics

Streptococcus
Vancomycin + a third-
Age 2-50 1
pneumoniae; Neisseria
generation cephalosporin
meningitidis

Vancomycin + ampicmin
S pneumoniae, N
Age > 50 1
a third-generation
meningitidis, Listeria
cep'lhalosporin

S pneumoniae, N
Vancomycin + ampicfllin
l mmunocompromised meningilidis, lJsteria,
cefepirne
gram-t1egative t"ods

Gram-negative rods,
Neu rosurgerytpenetr--ating
MRSA, coagulase- Vancomycin + cefepime
skull trauma
negative staphylococci

• Third-generation cepl'lalosporins: oeftriaxone or cetotaxime

• ~ltematives to cefepime: ceftazidime or meropenem
• .Ailtem ative to ampicillin: trimethoprim-sulfamethoxazole for Usteria

pg. 87
Viral encephalitis:

• MCC is HSV.
• Predilection to temporal lobe.
• C/P:
o Headache.
o Fever.
o Altered mental status.
• LP:
o Increased WBCs.
o Increased RBCs. (microinfarction of temporal lobe).
o Normal glucose.
• MRI: temporal love involvement; hemorrhagic changes.

Brain abscess:
Risk factors for brain abscess

Pred isposing problem Pathogenesis Affected ar,ea(s)

Olills med ia, masto,dilis Direct spread Temporal lobe, cerebellum

'
Frontal or ethmoid sinusitis Direct spread rontal 1000

Oo nlal infaclion Direct pr ad Frontal lobo

Multiple obscesse along

B Cl rami from other
H m togenous dlslnbubon or middle
sites of ini otion, cyano1,c
heafldlsees ·
spread oerebr I artery (gray-while
metier Junction)

• Causes:
o Viridans streptococci.
o Staphylococcus aureus.
o Gram-negative organisms.
• C/P:
o Fever.
o Vomiting.
o Early morning headaches.
o Focal neurological deficits.
• Diagnosis:
o CT or MRI of the head.
 CT shows hypointense center with ring enhancement and surrounding
edema. CT better at depicting bone thus diagnose damage to the
mastoid bone.
 MRI is superior for soft tissue details; for early cerebritis and
differentiating between edema and necrosis.
• Cyanotic heart disease?
o The shunt causes bypass of the pulmonary circulation so no filtration of the
blood from pathogens.
• Treatment:
o Prolonged antibiotic therapy.
o Aspiration or surgical drainage.

pg. 88
 MUSCULOSKELETAL:

Botulism:

• Clostridium botulinum.
• C/P:
o Bilateral bulbar palsies.
o Autonomic dysfunction:
 Constipation and drooling.
• Treatment:
o Respiratory support.
o NG tube.
o IV botulism Immunoglobulin.

Infant botulism
• Ingestion of Clostridium botulinum spores (eg, environmental dust'soil, honey)
Pathogenesis • Spores colonize GI tract & produce toxin
• Toxin inhibits presynaptic acetylcholine release

• Age <12 months

• Constipation, poor feed ing, hypotonia
Clinical
• Ocu lobulbar palsies (eg, absent gag reflex, ptosis)
presentati on
• Symmetric, descending paralysis
• Autonomic dysfunction (eg, decreased salivation, fl uctuating HR/BP)

• Clinical
Diagnosis
• Confirmation by stool C botulinum spores or toxins

Treatment • Botulism immune globulin

om·erential ,d iagnosis of flacoid paralys,is

Foodbome G1.11illa ·n-Barre

1

Diagnosi . lnfail'lt bo,w lism

botul ism yndro:rne

Ingestion of
Clostfir:Jium lin slio of Autoi mune,
IPaMiag.enesis botulinum spores pre·kil'med C p pher. nerve
ram environmental .M tulinum IID:in dsmy@ inalion
dust
I
Deseend1ng naceid De:soending fl<aedd Ascendin91filaccid
Pirese· lation
par.a ~~s paral)'si,s paralysis
I
Hum.an•d'el'ive<I
Equine-derived Pooed human
Trieatnwnt bolu i,sm immune immui'lle globulin
botulism antitoxi
globulin
•©!MHW<lll,t.UC

Tetanus:

• Clostridium tetani.

pg. 89
 • Four types: generalized, localized, cephalic, and neonatal.
o Neonatal:
 Generalized and fatal.
 First 2 weeks of life.
 Poor suckling.
 Fatigue, spasms and opisthotonos.
 Mortality due to apnea (1st week) and septicemia (2nd week).
 Prevention by maternal vaccine, clean cord handling, promoting
hospital delivery, and training attendants.
 Treatment: supportive, penicillin, and tetanus immunoglobulin.

Neonatal tetanus

• Difficult reeding , lrismus

Clinical features
• Spasms & hypertonicity: Clenched hands, dorsiflexed feet, opisthotonus

• Supportive care
Treatment
• Antibiotics & tetanus immune globulin

• Immunization
Prevention
• Hygien ic delivery & cord care

Septic arthritis:

• Hematogenous spread from nearby infection or direct inoculation.

• C/P:
o Fever.
o Acute joint pain.
 Nighttime awakening.
o Inability to bear weight.
o On physical examination: erythema of overlying skin, warmth, swelling, pain
with active and passive movement.
 Flexed, abducted, and externally rotated.
• Diagnosis:
o Elevated WBC, ESR, CRP.
o Blood cultures.
o Synovial fluid aspiration and culture!!!!!
 3 or more of the following table should undergo arthrocentesis.
o Kocher’s criteria:

Features of septic arthritis of the hip

• Fever ~38.5°C (101 °F)

• Inability to bear weight
• White blood cell count >12,000/mm3
• Erythrocyte sedimentation rate >40 mm/h
• C-reactive protein >2 mg/dl (20 mg/L)

• Treatment:
o Empirical antibiotic treatment with vancomycin.
 If no response  add broader antibiotics such as ceftriaxone.

pg. 90
 o Surgical drainage if synovial fluid with >100,000 WBCs and >90% neutrophils
and purulent fluid. Debridement and irrigation as well to prevent long term
disability.
 Delay can lead to femoral head necrosis.
• Leg-length discrepancy.
• Hip dislocation.
o Severe cases might require hip replacement surgery.

B rth to 3 month
Or om Srap11ytocoocus, p'
streptomccus & en Gram-nega11Ve bacilli
• An "bioliics - Ardistaphyloooccal ag -
(n all Of VWlOOi'llyoin), PlUS
g n -,rucin or - - ot-!l(im -
Treatment
Olde:r Ulani 3 mon h s
Orgo11i001.S - Slapltyloooccus, gmv A
.treptocoa::i · Stt ococcu" pn umon
• An ibio -cs - cillin, olin m-ycin,
cefazolin , or vancomycin

Septic arthri,tis i n infants

• Staphylococcus aureus
Pathogens • Group B Streptococcus
• Gram-negative bacilli

• General : fever, fussiness, poor feeding

• J oint:
1

Clinical features 0 Lacie of movement

0 Irritability with repositioning (eg, diaper changes)
o Asymmetric swellling

Laboratory findings • El!evated WBC, ESR, CRP

!Management
• J oint aspiration
1

• Antibiotics

CRP = C-reactive protein ; ESR = erythrocyte sedimentation rate; WBC = white blood cell.

Joint fluid characteristics

Inflammatory
Non inflammatory
Norm al (eg , crystals, Septic jo int
(eg, OA)
RA)

Translucent or
Appearance Clear Clear Opaque
opaque

wee count
<200 200-2,000 2,000-100,000 50,000-150,000
(mm 3)

PMNs <25% 25% Often >50% >80%-90%

pg. 91
Osteomyelitis:

• Occurs in the metaphysis of long bones; the femur and tibia being most common.
• Organisms:
o Staph Aureus is the most common cause.
o Other organisms include group B strep, E. coli in infants and Strep pyogenes
in children.
o Staph epidermidis associated with prosthetic devices.
o Salmonella and staph aureus in sickle cell disease.
 Third generation cephalosporins (ceftriaxone) and anti-staphylococcal
therapy (vancomycin or oxacillin) should be administered.
 Salmonella is the MCC in the US and Europe.
 S. aureus is the MCC in Africa and the middle east.
o Gram negative rods such as klebsiella and pseudomonas in those with a
history of UTI or urinary tract instrumentation.

Osteomvelitis in chl_dren
Osteomyelitis in children

Agelcond ltion Most common organi sms • Hematogenous spread

Pathogenesis
• Staphylococcus au/'9us most common cause

Group B Streptococcus • Fever, irritability

12 months
• scherichia col Clinical features • Limited function (eg , limp)
• Bony tenderness , swelling
2 monlhs y rs • Klnge{fa l<Jng • Elevated ESR, CRP, WBC count
• Blood culture
Diagnosis
- Stap11y1ococcus m;reus • X-ray (often nonnal), MRI
• Definitive: Bone biopsy/culture

Sickl
•s ,moo II spp Treatment • Antistaphylococcal antibiotic (eg, vancomycin)
• t phylococcus aur1ws CRP =C-reactive protein ; ESR =erythrocyte sedimentation rate ;
CIUW011d WBC =white blood cell.

• Diagnosis:
o Inflammatory markers.
o Blood cultures.
o X-ray.
 Initially normal but shows findings after 2 to 3 weeks.
o MRI  most sensitive.
 Brodie abscess is a lytic bone lesion with surrounding sclerosis.

o Biopsy  confirmatory!!!!!
• Treatment:
o Bed rest and immobilization.
o Antibiotic treatment: IV vancomycin and 3rd gen cephalosporins.
 Covers both S. aureus and salmonella.

pg. 92
 o Surgery when refractory to treatment.
- -
Osteomye'liUs in chilldren
Patie;nt popu atlo11 Mo.st common organisms Empiric anUb otic therapy

. Low likelihood o'f MRSA

Healthy children
Nak:illinfoxacillin OR oefazoliri
.
0
• staphyfocoocus aureus
High likelihood of MRSA
·O Cllndamycln OR vanoomyoln

• As abov,e
Chtldren wilh siokle eelI disease
• SalmoneJfa·spp
PLUS
• Staphyfocoocus aureus
• Third-generation cephalospo:rin (ceftriaxone, c-efotaoome)

Progression of hematogenous osteomyelitis

Evaluation of vertebral osteomyelitis

Fever, back pa in & focal spinal tenderness

Blood cultures
ESR/CRP
Plain spinal x- rays Bacterial seeding leads to T lntramedu1tary pressure. Cortical & periosteal
focal marrow cellulitis l blood flow, necrosis spread

t ESR/CRP but normal x-rays Reactive bone

(involucrum}

Retained, nec<otic

T
bone (sequestrum)

sinus

CT-guided need le aspiration/ biopsy

Chronic sequela

 Vertebral osteomyelitis can extend posteriorly into the epidural space and cause
severe back pain with motor and sensory abnormalities, which can progress to
paralysis.

LYMPH NODES:

Lymphadenopathy:

pg. 93
 Lymph node features
Rea.ssuring Worrisome

• Soft • Firm or hard

Palpation • Mobile • Immobile
• <2 cm (normal: <1 cm) • >2 cm

Location • Localized • • Generalized or supraclavicular

Systemic symptoms.. • Absent • Present

"Exception: supraclavicu lar nodes.

••Examples include fever & weight loss .

• Palpable supraclavicular lymph nodes are pathological until proven otherwise.

• Further evaluation of abnormal lymph nodes:
o CBC.
o Viral titers.
o Inflammatory markers.

Lymphadenitis:

Cervical lymphadenitis in children

Pathogen Key clinical findings

• Acute
Staphylococcus aureus,
• Most common
Streptococcus pyogenes
• Suppuration common

Anaerobic bacteria • Acute

(eg, Prevotella spp) • History of periodontal disease or dental caries

Unilateral • Acute
Francisel/a tularensis
• History of contact with infected animal (eg, rabbit)

• Chronic
Mycobacterium avium
• Nontender, violaceous

• Chronic
Barlonella hense/ae
• Papule at site of cat scratch/bite

• Acute (eg, adenovirus) associated with self-limited URI

Bilateral Viral • Subacute/chronic (eg, EBV, CMV) associated with
mononucleosis symptoms

Acute, unilateral cervlcall lymphadenitis

Etiology • Most common: Staphylococcus aureus & Streptococcus pyogenes

• Anaerobes associated with periodontal disease

• Childlrern age <5

Cliinical • Enlarged , erythematous, tender cervical node
features • :t Fever
• :t Abscess formation

• Ant1
i biotic therapy (eg, clindamyciin, amoXJicillin-clavulanate)
Management
• lncisi:on & drainage if abscess present

pg. 94
 • Clinical diagnosis.
• Abscess  fluctuance on examination.
• Empirical antibiotic therapy for acute unilateral lymphadenitis: Clindamycin.

Tularemia:

• Caused by francisella tularensis.

• Contact with an infected animal.
• C/P:
o Acute unilateral cervical lymphadenopathy.
o Fever.
o Chills.
o Headache.
o Malaise.

Peptostreptococcus:

• History of periodontal disease.

• C/P:
o Acute unilateral lymphadenitis.

Cat-scratch disease:

Cat-scratch disease

Etiology • Bartone/la henselae

Clinical • Papule at scratch/bite site

manifestations • Reg ional adenopathy
• +/- Fever of unknown origin {~14 days)

• Usually clinical
Diagnosis
• +/- Serology

Treatment • Azithromycin

© UWorld

GASTROINTESTINAL:

Diarrhea:

pg. 95
 I Foodborne disease I
I
Vomiting Watery diarrhea Inflammatory diarrhea Nongastrointestinal
predominant predominant predominant symptoms

• Staphylocoocus • Clostridium • Salmonella (both • Botulism

aureus perfringens typhi & non-typhi) (descending paralysis)
• Bacillus cereus • Enterotoxic • Campylobacter • Ciguatera toxin
• Noroviruses Escherichia coli • Shiga toxin producing (paresthesia)
(eg, Norwa lk} • Enteric viruses Escherichia coli • Scombroid
• Cryptosporidium • Shigefla (flushing, urticaria)
• Cyclospora • Enterobacter • Listeria {meningitis)
• Intestinal tapeworms • Vibrio (usually
• Vibrio vulnificus
parahaemolyticus)
(cellu litis, sepsis)
• Yersinia
• Hepatitis A {jau ndice)
• Brucellosis
(fever, arthralgias)
©UWorld

• Norovirus  cruises.
• Tests:
o Stool analysis and culture:
 Culture for bacteria.
• Toxin for C. difficile.
 PCR and enzyme immunoassay for viruses.
 Ova for parasites.
• Treatment:

Organism Association Therapy

Norovirus
Rotavi rus
Enteropathogenic £. coll
Enterotixigenic £. coli
Watery diarrhea, Su pportive
vom it ing, +/- fever
Nurseries, daycare Supportive
If severe, neomycin or
colistin
raveler's diarrhea Su pportive
If severe, TM P-SMS

Entrohemorrhagic £. coli Hemorrhagic colit is Supportive ONLY

HUS Antimicro bial t herapy
risk of HUS

pg. 96
 Organism Association Therapy

Salmonella Infected animals and contam inated Treatment ONLY for

eggs, mi lk, poultry certain ages and species

Sh igella
- --Person to person spread TMP-SMX
--
Contam inated food

Campylobacter Person to person spread Se lf lim iting; if severe,

Contam inated food eryth romycin speeds
recovery

Shige/la gastroenteritis

. Fecal-oral
Transmission
. Food or waterborne

. Rapid-onset, high fever

Cli nical presentation • Abdominal pain, watery diarrhea with mucus, +/- blood
. +/- Seizures in ch ildren

Management
. Fluid & electrolyte replacement
• Antibiotics if immunocompromised , bacteremic or severely ill

Organism Association Therapy

Yersinio enteroco/itico Pets, contam inated foods, No antibiotic therapy

arthritis, rash IF <3mos or culture proven
septicemia -3rd gen
cephalosporin +
aminoglycos ide
C. dificile Recent antibiotic use Metronidazole OR
Vancomycin +
Stop other antibiotics

Staph aureus Food poisoning (within 12 Supportive

hours)
Common source

Organism Association Therapy

Entamoeba histolytica Acute bloody diarrhea Met ronidazole

Glardio Anorexia, nausea, abdom inal Met ronidazole

distension, watery diarrhea, Furazolidone
weight loss
Cysts ingested from infected
individual or from contaminated
food or water
Cryptosporidium M ild diarrhea in Ra ising CD4 counts to
immunocomprom ised infants norma l
Severe diarrhea in AIDS patients

Rotavirus:

pg. 97
 • Unimmunized child.
• C/P:
o Fever.
o Vomiting.
o Diarrhea.
• Common cause of diarrheal illness in children under 5 years of age.
• Rapid diagnosis using enzyme immunoassay of the stool.

Hemolytic uremic syndrome:

Hemolytic uremic syndrome

• Initial insu lt from Shiga toxin (most commonly

Pathogenesis Escherichia coli [0 157 H7I)
• Vascular damage & microthrombi format ion

• Antecedent diarrheal illness (often bloody}

• Microangiopathic hemolytic anemia - fatigue ,
Cl inical pallor, schistocytes
features
• Thrombocytopenia - bruising , petech iae
• Acu te kidney injury - oliguria , edema

© UWor1d

Hemolyti c-uremic syn drome

nlerocolitis from Shiga toxin-producing bacteria

Etiology
{ ooli0157:H7, Shige/la) most common

• Diarrhe (often bloody)

Presentation, • Le~h rgy, lily, pallo
• hi
•
• Hemolylic
Le boratory • Th
F1lndlng1 • 1' i turl , prol inul'i , ca l (due
to I lry is)
• 1' Bilirubin (due to hemolysis)

• lu1d & eleotrolyle management

Treatment • Blood Ir nsfusions
• Dialysis
!D USMLE'Norl<I, W:

• Helmet cells and burr cells on blood smear.

Yersinia enterocolitica:

• Transmitted by contaminated raw pork, unpasteurized milk products, unfiltered water,

or pet feces.
• Incubation period of 4 to 6 days.

pg. 98
 • C/P:
o Inflammatory diarrhea.
o Nausea.
o Low-grade fever.
o RLQ tenderness (mimics appendicitis  pseudoappendicitis).

C. difficile colitis:

• Antibiotics can be transmitted through breast milk but rarely causes symptomatic
disease in infants due to the lack of intestinal receptors to the offending toxin until the
age of 2.

STI:

Sexually transmitted infections:

• All sexually active women with age of 24 and less should undergo testing for C.
trachomatis and N. gonorrhea.
• Screening recommended for any person with a new partner in past 2 months,
multiple partners, history of STI, illicit drug use, incarceration, and contact with sex
workers.
o Best screening method would be nucleic acid amplification test (NAAT).
• Cervicitis:
o Common manifestation of chlamydia and gonorrhea.
o Undetected and untreated infection can lead to PID and its complications.
o Can facilitate HIV transmission.

Pelvic inflammatory disease:

• C/P:
o Lower abdominal pain.
o Cervical motion tenderness.
o Purulent vaginal discharge.
o Dyspareunia.
o Dysuria.
• Labs:
o Leukocytosis.
o Elevated ESR.
• Treatment:
o Third generation cephalosporins.

Epididymitis:

pg. 99
 • MCC in patients between 15 and 35 years of age are N. gonorrhea and C.
trachomatis.
• C/P:
o Fever.
o Urethritis.
• Diagnosis by NAATs.

OTHERS:

Lyme disease:

• Borrelia burgdorferi.
• Carried by Ixodes scapularis tick.
o Also carries anaplasma and babesia.
• In wooded areas.
o A TRIP TO MAINE.
• C/P:
o Early localized:
 Spreading annular rash with central clearing  erythema migrans.
 Flu-like symptoms.
 Regional lymphadenopathy.
 Myalgias.
 Oligoarticular arthritis.
o Early disseminated:
 Bell palsy.
• Can lead to corneal dryness and abrasions due to poor eyelid
closure  give artificial tears during the day in addition to
ophthalmic ointments and eyepatch at night.
 AV block or carditis.
• 3rd degree heart block leads to asystole which may lead to
Stokes-Adams attacks (sudden loss of consciousness).
 Meningitis.
 Multiple erythema migrans.
 Migratory arthralgias.
o Late disseminated: encephalopathy and chronic arthritis.
 Acute monoarticular arthritis or asymmetric oligoarticular arthritis.
• Most commonly involves the knee.
• Synovial fluid with WBCs almost 25,000. Gram stain and
culture negative. PCR for B burgdorferi DNA.
 Peripheral neuropathy.
 Encephalitis.

pg. 100
 Stage Lyme disease cliniic al features
• Erythema migrans
Early localized
• Fatigue, headache
(days to 1 month)
• Myalgias, arthralgias

• MulUple erythema migrans

• Urnilateral/biilaterall CN pa l!sy (eg , CN VIII)
Early disseminated
• Meningitis
(weeks to months)
• Carditis (eg, AV block)
• Migratory arthralgias

• Arthritis
Late
• Encephalitis
(months to years)
• Penipheral neuropathy

AV = atrioventricular; CN = cranial! nerve.

• Diagnosis:
o Based on clinical findings since serology is negative early in the disease.
o PCR for DNA.
o Confirmatory:
 ELISA.
 Western blot testing.
o For early disseminated and late disease  lyme serology.
• Treatment:
o Doxycycline for 14 days.
 Also targets anaplasma.
o Oral amoxicillin or cefuroxime for children less than age of 8 and pregnant
women.
o IV ceftriaxone is used for Lyme meningitis and heart block.
• How to remove tick?
o Grasp the tick with tweezers as close to body as possible and then remove
with steady upward pressure.
o If mouth parts break off and remain in the skin, they can be left alone as the
infective body is no longer attached.
• Prevention: doesn’t work for anaplasma and babesia.
o DEET.
o Protective clothing.
o Tick checks.
o Bathing.
o Doxycycline if tick attached for more than 36 hrs.

pg. 101
 Tick removal

Lyme disease prevention

Tick removal • Grasp with small forceps as ciose to sikin as possible

• Pull fiirmliy upwards without tw1
isting

• Jxodes scapularis (deer tick) identified

Prophyilaxis criteria • Tick attached! for ~36 hours or engorged

(must meet all 5) • Prophylaxis started within 72 hours of tick remova l
• ILocal Borrelia burgdorferi infection rate ~20% (eg, New England}
• Nlo contraindications to doxycyciine (eg , pregnancy)
Antim icrobial prophylaxis • Single-dose doxycycline
o It takes 48 to 72 hours for the B burgdorferi migrates from the tick’s gut to
salivary gland.

Lyme Disease: Endemic Areas in the United States

pg. 102
Mumps:

• Affinity to glandular epithelium.

• C/P:
o Prodrome: fever and parotitis (unilateral or bilateral).
• Complications:
o Orchitis.
o Pancreatitis.
o Aseptic meningitis- most common.
o Sensorineural hearing loss.
• Prevention by MMR vaccines.

Rabies:

Human rabies
Pathogenesis • Tirarnsrnission of rrabies v,irus by a Me from an irnfecied mammal

• United States: bats (most commorn),, iracooons, sk1m ks, foxes

1

Reservoir
• Developing world: dogs

Encepbal ltlc
.,• Hydroph. obia & aerophob,ia (due to p'haryngeal spasm}
Auton.omic insta:bility
Clinical
teatur,e,s .,• Spastioity
Agitation altered mental status
&

Paralytic • Ascending flaccid paralysis

PosleX1posure • Rabies immunogldbulin

prophylms* • Rabies vaooine series

P1rognosls • Coma, respiratory failure & dea~h wilhil'l wee'ks

*In cases of a high-risk animal lt1at cannot be tested m observed.

• Initial C/P: numbness and tingling at the bite site.

pg. 103
 Rabies PEP

Mammalian bite with possible rabies exposure

(mammalian bile, w ith broken skin or mucous membrane contact)

Hi gh-,-isk wild animal Low-risk wild animal Pet

(eg, bat, raccoon, (eg, squirrel, chipmunk., (eg, dog, cat,
skunk, fox, coyote) mouse/rat, rabbit) gerbil, ferret)

• Start PEP ir animal

unavailable
! NoPEP ! I Available for
quarantine?
I I Contact pu'blic
health department
I
Yes I No
• If animal avarlable,
euthanize & test, start
l
I.
PEP if rabies tesl is
positive Observe for 10 days
• No PEP if animal is healthy
II
II I·
Start PEP I
PEP = postexposure prophylaxis.

PARASITE:

Strongyloidiasis:

• C/P:
o Urticaria.
o Abdominal pain.
o Respiratory symptoms.
• Treatment: ivermectin or albendazole.

Onchocerciasis: river blindness.

• C/P:
o Ocular lesions.
o Dermatitis.
• Treatment: ivermectin.

Enterobius vermicularis (pinworm):

Enterobius vermicu/aris (pinworm)

Symptoms Perianal pruritus, especially at night

Diagnosis Eggs on tape test

Treatment Albendazole OR pyrantel pamoate for patient & all household contacts

pg. 104
 • Vulvovaginitis may also be present in prepubertal girls.
• Pyrantel pamoate preferred in pregnant patients.

Chagas disease:

• Trypanosoma cruzi.
• Treatment:
o Nifurtimox for acute Chagas disease.
o Benznidazole.
o Chronic disease does not have any treatment.

Diphyllobothrium latum:

• Associated with vitamin B12 deficiency.

Ancylostoma duodenale and necator americanus:

• Associated with iron deficiency anemia.

PRECAUTIONS:

Infection co ntrol isolatio n precautions

Airborne • Bacterial (tuberculosis)

• Viral (varioella, SARS, measles)

• Multidrug-resislant organism cdlonizalion (MRSA, VRE}

Contact • Enteric (CJostn'dioides ditnc/le, Esoheric-hia coli 0 157:H7)

• Parasitic (scabies)

• Viral (RSV)

• Bacterial (Neisserfa meningilidls, Haemophilus .intluenzae type B, Myoap/asma

Droplet pneumoniae)
• Viral (influenza, adenovirus)

Airborne precautions:

• When aerosolized particles are <5 microns.

Contact precautions:

• Gown and gloves.

• Prevents transmission of organisms by contact such as MRSA and rotavirus.

Droplet precautions:

pg. 105
 • When aerosolized particles are 5 or more microns.
• Surgical mask within 3 to 6 feet of the source.
• Prevents transmission of organisms that spread by droplets such as influenza and
RSV and N. meningitis.
• Do not block small airborne particles such as measles, varicella, and tuberculosis.

Hand hygiene:

• Prevents organisms by fecal-oral route, droplets and secretions:

o Enterovirus and C. Difficile.

pg. 106
 CARDIOLOGY

Cardiac Evaluation: History

• Assess age
• Infants: heart failure
• Feeding difficulties
• Easily fatigued
• Sweating while feeding
• Rapid respirations
• Weight loss
• Older child ren: heart failure
• Shortness of brea t h
• Dyspnea on exertion

• Newborns are born with a large right ventricle compared to the left ventricle,
which appears as physiologic right axis deviation and R waves in the
precordial leads (V1-V3) on ECG.

Congen ital heart dls!ease

C lnlca features ExamplK

• Tachlypnea • Ven~ricllllar sep!BI defect

Lelt-to- . ht
srhunting • Poor eight gain • Alna1 septal defool
• S'Neatmg wrth eeds • tsol,ated patent du u5 artenosus

•r nsposilion of 1h great v
■ irolmlog,y of Falrot
R hMo 8
• Cyal'IOSIS ncuspid Ires.a
shunting • · 1

• Anomalous pulmonaiy venoos relln'I

• runcus ilrteri~us

Ililt . rrupled
• Pallor or shock • Coarc!:Btioo o f the aorta
le ve lricu r
output • S re cidos,s •· iypoplasllc le he rt symdrome

CUWOll:I

o Cyanosis that does not improve on hyperoxia challenge (trial of 100% oxygen).

Acyanotic congenital heart disease:

• Ventricular septal defect:

o Associated with trisomy 21 (endocardial cushion defect) and 18.
o C/P:
 Failure to thrive.
 Easy fatigability.
o Holosystolic murmur in the left lower sternal border.

pg. 107
 Louder murmur means smaller defect.

A diastolic rumble at the cardiac apex due to increased flow through

mitral valve.
o Symptoms from the high output heart failure and pulmonary overcirculation 
increased work of breathing, bilateral rates in the lungs due to increased
extravascular transudate and a palpable thrill due to turbulent intracardiac
flow.
o Perform an Echo to confirm it and determine its size and location.
o Large defects can lead to Eisenmenger syndrome.
o Management of large VSD: medications (diuretics) and defect closure.

Moderate or large ventricular septal defect

Timeline Pathophysiologic changes

• RV & LV pressures equal

In utero
• No significant hemodynamic consequences

• t PVR, f SVR
Postnatal transition
• Left-to-right shunting through VSD

• RV volume overload/dilation
Infancy • Pulmonary overcirculation
• LA & LV volume overload/dilation

• Pulmonary arterial vascular thickening (t PVR)

Late childhood • Right-to-left shunting through VSD (ie , Eisenmenger
syndrome)

LA - left atrium; LV - left ventricle; PVR - pulmonary vascular resistance; RV - right ventricle; SVR -
systemic vascular resistance: VSD ~ ventricu lar septa! defect.

• Atrial septal defect:

o Associated with trisomy 21 (endocardial cushion defect).
o Systolic ejection murmur at the left upper sternal border.
o Wide and fixed splitting of S2.
• Complications of VSD and ASD:
o Heart failure.
o Pulmonary infections.
o Infective endocarditis.
o Reversal of the shunt.
• Management of VSD and ASD:
o Control heart failure: B-blockers, diuretics, spironolactone.
o Antibiotics for chest infections.
o Antibiotic prophylaxis against infective endocarditis.
o Follow up using echo and ECG.
• Patent ductus arteriosus:
o Associated with prematurity, char syndrome, rubella, and trisomy 18.
o Continuous machine-like flow murmur at the left supraclavicular border.
o Mildly accentuated peripheral pulse.
o Prostaglandin E (alprostadil) keeps it open. May be required open in certain
conditions.
o Indomethacin closes it by inhibiting Prostaglandin E.
o Char syndrome:
 Triad:
• Distinctive facial features.
• Hand abnormalities.
• PDA.
• Complete atrioventricular septal defect:
o Down syndrome.

pg. 108
 Heart failure from blood mixing in chambers and severe AV regurgitation.
o
C/P:
o
 Diaphoresis and dyspnea with feeds.
 Crackles on examination.
 Auscultation:
• Fixed split S2.
• Systolic ejection murmur from increased flow across the
pulmonary valve due to left-to-right shunt across the ASD.
• Holosystolic murmur of VSD.
• Holosystolic apical murmur depending on the degree of AV
valve regurgitation.
• Coarctation of aorta:
o Occurs at any point between left subclavian artery and ductus arteriosus,
most commonly juxtaductal. Pre and post are rare.
o Thickening of tunica media.

Coarctation of the aorta

• Thickening of tunica media of aortic arch
Pathology
• Can be associated with Turner syndrome or bicuspid aortic valve

• t BP & strong pulses in upper extremities

• i BP & weak pulses in lower extremities
• Neonates• (severe narrowing)
o Heart fai lure (eg , poor feeding, diaphoresis)
Clinical features o Cardiogenic shock
• Children/adults (mild narrowing)
o Lower extremity claudication
o Palpable pulsations of intercostal vessels (collaterals)
o Secondary hypertension (upper arms)

• Aortic aneurysm, dissection & rupture

Complications
• Cerebral aneurysm & subarachnoid hemorrhage

• Prostaglandin E1 for neonates with severe narrowing

Treatment
• Surgical repair

o Left interscapular systolic or continuous murmur

o CXR shows rib notching and ‘3’ sign due to aortic indentation and pre and
post stenotic dilatation.
o Echo is diagnostic.
o Complications:
 Systemic hypertension due to renal hypoperfusion.
 Intracranial hemorrhage due to hypertension.
 Infective endocarditis.
 Left ventricular failure.
o Treatment:
 Balloon angioplasty +/- stent placement.
 Surgical repair.

pg. 109
Cyanotic congenital heart disease:

• Truncus arteriosus:
o DiGeorge syndrome association.
o Always with a VSD.
o Increased pulmonary markings on CXR due to HF and pulmonary over
circulation.
o Systolic ejection murmur with a loud ejection click at the left sternal border.
o ECG: biventricular hypertrophy.
• Tetralogy of Fallot:
o Most common cyanotic heart disease.
o Four characteristics:
 Right ventricular outflow tract obstruction (pulmonary infundibular
stenosis or atresia).
 Right ventricular hypertrophy.
 Overriding aorta.
 Ventricular septal defect.
o Physical examination: single S2 and harsh systolic ejection murmur at left
upper sternal border.
o CXR shows a boot-shaped heart. ECG shows right axis deviation.
o Echo confirms the diagnosis.
o C/P: depends on degree of RVOT obstruction.
 Profound cyanosis and hypoxemia in severe cases.
 Episodic cyanosis precipitated by exertion or agitation.
• Increase in PVR leading to shunting of deoxygenated blood
from RV through VSD into aorta  hypercyanotic, hypoxic or
tet spell.
o Immediate placement in knee-chest position or
squatting; increases systemic vascular resistance 
decreases shunting.
o Give inhaled oxygen (to stimulate pulmonary
vasodilation and systemic vasoconstriction further
decreasing right-to-left shunting), morphine, and IV
fluids.
• Transposition of the great vessels:
o Most common cyanotic heart disease to present in the first 24 hours.
o DiGeorge syndrome and maternal diabetes association.
o Abnormal rotation of the great vessels during cardiac development results in
arterial switch.
o C/P:
 Cyanosis within the first 24 hours of life with a normal S2.
o Physical examination: single S2.
o X-ray: narrow mediastinum; egg on a string.
o PDA necessary for survival or VSD or patent foramen ovale.
 Patent foramen ovale  no murmur.
o Initiate prostaglandins to keep ductus arteriosus opened.
o Surgery to fix it.
• Tricuspid valve atresia:
o Hypoplastic right ventricle since there is no connection between RA and RV.
o Right ventricle hypoplastic  left axis deviation.
o Decreased pulmonary markings on CXR.
o Left axis deviation on ECG and tall peaked P waves.
o ASD and VSD necessary for survival.

pg. 110
  Will hear their murmurs.
• Total anomalous pulmonary venous return:
o Drainage of pulmonary veins into systemic circulation (SVC or IVC)  mixing
of both systems.
o Can be kinked  blood flow obstructed backs up into the right atrium 
cyanotic.
o Left to right shunt.
o Associated with PDA or ASD.
o Snowman appearance on CXR.
 Increased pulmonary vascular markings.
o Give prostaglandins.
o Treatment surgery.
• Hypoplastic left heart syndrome:
o Underdevelopment of the left side of the heart.
o Right ventricle maintains both pulmonary and systemic circulation.
o Treatment:
 Initial management: prostaglandins to maintain PDA.
 Staged palliative surgery: three stage surgery with transplantation
may be indicated for HF that is refractory to medical therapy and
surgical palliation.

Normal heart Hypoplastic left heart syndrome

Narrow
ascending
aorta
A tretic mitral

Atrial
septal
defect Underdeveloped
left ventricle

©UWorld

pg. 111
 Cyanotic heart disease in newborns

Diagnosis Examination X-ray find ings

Transposition of • Single S2 "Egg-on-a-string" heart

the great vessels • +/- VSD murmur (narrow mediastinum)

• Harsh pulmon ic "Boot-shaped" heart

Tetralogy of stenosis murmur (right ventricular
Fallot
• VSD murmur hypertrophy)

• Single S2 Minimal pulmonary

Tricuspid atresia
• VSD murmur blood flow

• Single S2
Truncus • Systolic ejection Increased pulmonary
arteriosus murmur (increased flow blood flow, edema
through truncal valve)

Total anomalous Pulmonary edema,

pu lmonary • Severe cyanosis "snowman" sign
venous return • Respiratory diistress (enlarged supracardiac
with obstru ction veins & SVC)

VSD = ventricular septal defect

©UWorld

PDA-dependent congenital heart di,sease

• Coarclation of the aorta

• D-transposition of the great arteries
• Hypoplastic left heart syndrome
• Total anomalous pulmonary venous connection
• Tricuspid atresia

Pulmonic valve stenosis:

IPulmonic va1'¥ie st.enosis

Etiofogy
• Congenirnl (usua ly iSolalec:I defect)
" Rarely acquired (eg, carcimlid)

severe. Right-sided heart fa ure in chilc:lhood

"
Clinical pr,esel!ltatrcoi:i
• Mild: Symp om:s (eg, dj1Spnii1a1)•in ealfy ac:lu'llhooc:I
Cr,escenc:lo-decr,e.scenc:lo mumru · ( t on nspiralion)
"
• Systole ejecllc:m &lick & wiclened splil of S2

Diagnosis " Echocarcf OJ raphy

P.ercula11eous balroon valvulotomy (pre err,ecl)
Trfflment "
• Surgical repair in ·some cases

pg. 112
 • Splitting increases with inspiration vs fixed and wide splitting of S2 in ASD.

Ebstein anomaly:

• Lithium use during pregnancy

• Atrialisation of the right ventricle.
• Severe tricuspid regurgitation.
• C/P:
o Cyanosis.
o Heart failure.
• Auscultation:
o Triple or quadruple gallop: widely split S1 and S2 sounds plus a loud S3
and/or S4.
o Holosystolic or early systolic murmur at the LLSB.

Supravalvular aortic stenosis:

• Williams syndrome association.

o Deletion of chromosome 7.
o C/P:
 Elfin facies.
 Hypersociability.
 Increased empathy.
 Hypercalcemia.

Postpericardiotomy syndrome:

• Autoimmune inflammation.
• Days to months after cardiac surgery or injury.
• Reactive pericarditis, pericardial effusion, or even cardiac tamponade.
• Most children develop small effusions.
• C/P:
o Fever.
o Leukocytosis.
o Tachycardia.
o Pleuritic chest pain.
 Exacerbated by inspiration or laying supine.
o Large effusions:
 Abdominal pain.
 Vomiting.
 Decreased appetite.
• Treatment:
o NSAIDs or steroids to treat the inflammation.
o Pericardial puncture for cardiac tamponade.

Rheumatic fever:

• 5 to 10 years of age.

pg. 113
 • Due to Group A strep pharyngitis.
• C/P: “JONES”
o Major criteria:
 Joints (migratory arthritis).
 Carditis.
 Subcutaneous nodules.
 Erythema marginatum.
 Sydenham chorea.

Sydenham chorea

• Preceding GAS infection

Pathophysiology • Molecular mimicry between anti-GAS antibodies & neuronal antigens in
basal ganglia

• Involuntary, jerky movements (worse while awake & with action)

Clinical features
• Hypotonia
• Emotional !ability, obsessive-compulsive behaviors
• ± Symptoms of acute rheumatic fever

• GAS testing: throat cultu re, ASO & anti-DNAse B titers

Evaluation
• Cardiac testing: echocard iography, ECG

• Chronic antibiotics (eg, penicillin G)

Treatment
• Symptomatic (antidopam inergics [eg, haloperidol])

• Spontaneous remission
Prognosis • Recurrence common
• i Risk of rheumatic heart disease
anti-0:NAse " anlideoxyribonuclease; ASO " anlistreptolys in O; GAS " group A Streptococcus.

• Chorea.
• Hypotonia.
• Milkmaid grip: intermittently weakened handgrip.
• Tics.

oMinor criteria:
 Fever.
 Arthralgias.
 Elevated inflammatory markers.
 Prolonged PR interval.
o To diagnose:
 2 major criteria.
 1 major and 2 minor.
 Sydenham chorea or carditis.
• Valvular damage: starts of as mitral regurgitation then into mitral stenosis.
o Mitral regurgitation: high pitched blowing systolic murmur.
o Mitral stenosis: opening snap and late diastolic murmur.

pg. 114
 o Mitral stenosis can lead to atrial fibrillation  chronic pulmonary HTN  RHF.
• Treatment:
o Antibiotic therapy given every 4 weeks.
 Clarithromycin is used in patients with hypersensitivity to beta-lactam
antibiotics.
o Carditis or arthritis  aspirin.
o Chorea  steroids or phenobarbital (?).

Antibiotic prophylaxis for secondary prevention

of rheumatic fever
Duration of therapy
Severity
followi ng last attack

Uncom plicated rheumatic fever 5 years or until age 21•

With carditis but no valvu lar disease 10 yea rs or until age 21•

With carditis & va lv ular disease 10 yea rs or until age 40•

•whichever cturation is longer. Intramuscular penicillin G benzalh ine every 3-4 weeks is preferred .

Acute rh eumatic fever

Epidemiology • Peak ,incidence: age 5-15

• Twice as common in gir1s

• Joints (migratory arthritis)

• • (Cardilis)
Major • Nod ulles (subcutaneous)
• Erythema marginatum

Clln lcal features • Sydenham chorea

• Fever
• Arthralgias
Minor
• E!levated ESR/CRP
• Prolonged PR interval

Late sequelae Mitral regurgltationlstenosis

Penicillin for group A streptococcal

Prevention
(Streptococcus pyogene6) pharyngitis

Infective endocarditis:

• Pathogens:
o Staphylococcus aureus:
 MCC of acute IE for all groups including IV drug users and prosthetic
valves.
 Affects healthy valves.
 Fatal in 6 weeks.
o Viridans streptococci:
 MCC subacute IE.
 Affects predamaged valves (mainly the mitral valve).
 Common after dental procedures
o Staphylococcus epidermidis:
 Affects prosthetic valves.
o Enterococci:
 Multiple drug resistance.
 Common cause following nosocomial UTIs.

pg. 115
 o Strep gallolyticus:
 Associated with colorectal cancer.
o HACEK:
 Poor dental hygiene and periodontal disease.
o Candida:
 Immunosuppressed.
 IV drug abusers.
 Cardiosurgical interventions.

Acute bacterial endocardltis Subacute bacterial endocarditis Prosthetic valve

endocarditls

Course • Acute onset • Insidious onset • Early-onset < 60 days

.
,
Rapid, fulminant progressioa
(days to weeks)
• More severe constitutional
symptoms (e.g., high fever)
• Slow progression (weeks to
after surgery
months) • Late-onset: ~ 60 days
after surgery
• Less severe constilt1tional
symptoms (e.g., low fever
possible, often absent)

Main • Most common: S. aureus • Most common: viridaris • Ea rly onset:

pathogens . Others: group A hemolytic streptococci species S. epjdermidis or
streptococci, S.pneumoniae, S. aureus (most
• Others: nonenterococcal
common) 111t21
N.gonorrhoeae group D streptococci and
enterococc i • Late-onset:
S. epidermidis{most
common) lt1r21

• C/P:
o Constitutional:
 Fever and chills.
 Tachycardia.
 Malaise and weakness.
 Dyspnea.
 Arthralgias.
o Cardiac:
 New heart murmur or change to a preexisting one.
 Arrhythmias.
 Signs of HF.
o Extracardiac: caused by bacterial microemboli or immune complex
deposition.
 Splinter hemorrhages.
 Janeway lesions.
 Osler nodes.
 Roth spots.
 Acute renal injury.
 Neurological manifestations.
 Pulmonary embolism.
• Diagnostics:
o Best initial test: blood culture.
 A minimum of 3 blood cultures from 3 different venipuncture sites over
a period of 1 hour if acute. If subacute  over several hours.
o Leukocytosis and elevated inflammatory markers.
o Echocardiography.

pg. 116
 o Duke criteria:

Infective endocardlitis - modified Duke criteria

Major criteria
. Blood culture positive for typical microorganism (eg,
Streptococcus viridans, Staphylococcus aureus,

. Enterococcus)
Echocardiogram showing valvular vegetation
Minor criteria
. Predisposing cardiac lesion
Diagnostic . Intravenous drug use
criteria for IE . Temperature >38 C (100.4 F)
. Embolic phenomena
.
. Immunologic phenomena (eg , glomerulonephrilis)
Positive bllood culture not meeting above criteria
Definite IE
2 major OR 1 major+ 3 minor criteria
Possible IE
1 major+ 1 mi nor OR 3 minor criteria

. Fever (>90%)
.. Heart murmur (85%)
Petech iae (~50%)
Clinical
. Subu ngual spli nter hemorrhages (<50%)
findings
. Osler nodes, Ja neway lesions (<50%)
(frequency)
. Neurologic phenomena (embolic) (~0%)
.
. Splenomegaly (~30%)
Roth spots (retinal hemorrhage) (<5%)

o Only transesophageal echo can rule out endocarditis.

• Treatment:
o Native valves: empiric IV vancomycin.
 4 week treatment with penicillin G.
o Prosthetic valves: same as native but longer  6 weeks.
o Indications of surgery: heart failure.
o According to causative agent:
 S. viridans: penicillin for 4 weeks or penicillin/ceftriaxone + gentamicin
for 2 weeks.
 Enterococcus: ampicillin + gentamicin.
 S. Aureus: 4-6 weeks of nafcillin/oxacillin plus 5 days of gentamicin.
• Prophylaxis:
o PO amoxicillin for high risk patients 1 hour before the procedure.
 Previous history of infective endocarditis.
 Unrepaired or incompletely repaired cyanotic heart disease.
 Cardiac transplant patients who develop valve lesions.

pg. 117
 Tab!le 1
Cardiac Condllions Associated
with High Risk or IE

• •'"" •"' ' -• u •• • ,. • ... ~ . , _.., ,._

Mitral valve prolapse:

• C/P:
o Chest pain and palpitations.
• Most often seen in women.
• No therapy required.

Long QT syndrome:

• Normal QT <440 ms in males.

• Normal QT <460 ms in females.

Causes of QT prolongation

.. Hypocalcerr'oa
Electrolyte
derangements
. ~
HYl)()fTlll9l'I

..
•
Maaolide entilliotics
Fluoroquinolone antibiotics
Psychalropoc medicabons:
oAn~
o Tricydie antidepressants
o Se!ledive serolonin reuprake inhibitofs
• Opioids
Acqu iNld
o Meliladone
Medication- 0 OJcyoodone
inducMt • An~meti(;:s
0 Ondaosebon
Gnmiselron
0

• Anliarrt,yttuncs
o Ot.Midine
o Procainarride
o Flec81ruae
0 Amodarone

0 SolakJI

Inherited
.. Jervell•l.ange-Nielsen syndmme (aulosomal recessive)
Romano-Ward syndrome (autOSOIMI dominant)

• Mnemonic for medication-induced: ABCDE (from FA)

o Antiarrhythmics: class 1A and 1C.
o Antibiotics: macrolide.
o Antipsychotics: haloperidol.

pg. 118
 o Antidepressants: TCA.
o Antiemetics: odansetron.
• Jervell-Lange-Nielsen has sensorineural hearing loss.
• Treatment:
o Normalize electrolytes.
o Avoid exercise and medications that prolong QT interval.
o Beta blockers.
 Avoid sotalol as it may prolong QT even more.
o Pacemaker if symptomatic (lightheadedness or palpitations) or history of
syncope.

Wolff-Parkinson-White syndrome:

• Shortened PR interval.
• Treatment:
o Procainamide.
o Definitive treatment: radioablation of the aberrant pathway.

Hypertrophic obstructive cardiomyopathy:

• Autosomal dominant inheritance.

• African americans.
• Most common cause of sudden death in an adolescent.
• Pathophysiology: left ventricular outflow tract obstruction.
• C/P: syncope or sudden unexplained death during exercise.
• ECG:
o Tall R waves in aVL.
o Deep S wave in V3.
• On auscultation: systolic ejection murmur; carotid pulse with dual upstroke (pulsus
bisferiens) due to midsystolic obstruction.
o Rapid squatting increases preload  softens murmur.
o Valsalva maneuver decreases preload  murmur louder.
• Treatment:
o Refrain from sports.
o Beta blockers or calcium channel blockers.
o No diuretic nor digoxin.

pg. 119
 Effect.01·m1rne111Yel'$ on nypenropn c: c:11rdl0'.my~pa1ny
c;IWingl' In mym,
Plh)ltl~10010 e~ lnl•n•ity

V!llutva (•tr n nop~ ■ HI

Pibfi!,iil tltridlnu
jlrcim anting OI' au~ne Preklad
pa.tltlQn)

Nlif01!1¥e•m ■ d'm lslr1.1lon

$U1tal11et:1 l\md IJrfJI MOOO<lld

Sq1.1irt'f!lnu (ll'Om ,i.ndlnu

Aflel1loed & PfN)OO
posltlan)

Pi!!i--'~ leg rtfH ~

Congenital heart block:

• Neonatal lupus association.

o Erythematous annular rashes on the scalp and periorbital region.
o Passage of anti-SSA and anti-SSB through the placenta  irreversible injury
to AV node.
• 3rd degree heart block leads to asystole which may lead to Stokes-Adams attacks
(sudden loss of consciousness).

Hypertension:

• Routine BP check: start at age of 3.

• Check all 4 extremities.
• Use normograms to assess BP.
• Etiology:
o Primary: more common in adults.
o Secondary: more common in children.
• Secondary Hypertension
o MCC in children is renal disorders such as fibromuscular dysplasia.
 Hum or bruit in costovertebral angle.
 Right affected more than left.
 Angiography shows a string of beads on renal artery.
• Diagnosis:
o CBC, UA, blood chemistries.
o ECG, echo.
o Renal ultrasound, angiogram.
• Treatment:
o If obese: weight control, salt restriction.
o Pharmacological therapy: similar to adults.

Pediatric viral myocarditis:

• Prognosis:
o Mortality:

pg. 120
  Newborns: 75%.
 Infants and children: 25%.
o Outcome of survivors:
 Full recovery in 2-3 months: 66%.
 Dilated cardiomyopathy/chronic heart failure: 33%.
• Treatment:
o Supportive.
o Causative: antibacterial or antimycotic.
o Treatment of CHF, and arrhythmias (amiodarone).
o Heart transplant.

Viral myocarditis

Etio logy • Coxsackie~ms B, adenovirus

Cli nical features • Viral prodrome
• Heart failure : respiratory distress , murmuir, hepatomegaly
• Chest x-ray: cardiomegaly, pulmonary edema

Diagnosis • ECG: sinus tachycardia

• Echocardliogram : decreased ejection fracti:on
• Biopsy (gold standard): inflammation, necrosiis

Treatment • Supportive (eg , diuretics, inotropes)

• Intravenous immunoglobulin

T wave inversions:

• Myocardial infarction.
• Myocarditis.
• Old pericarditis.
• Myocardial contusion.
• Digoxin toxicity.

Vascular ring:

• Common cause of inspiratory stridor.(biphasic stridor; with inspiration and expiration)

o Improves with neck extension.
• Present before 1 year of age with respiratory or esophageal symptoms (vomiting and
dysphagia and aspiration pneumonia).
• Does not improve with racemic epinephrine.
• Diagnosis:
o X-ray shows tracheal bowing and narrowing consistent with tracheal
compression at the level of T4.
o CT scan can delineate the exact anatomy of the vascular ring and if there are
any associated tracheal conditions.
o Barium contrast esophagogram (T3-T4), laryngoscopy, bronchoscopy, or CT,
or MR angiography for all patients.
• Treatment:
o Surgical correction.

pg. 121
 Vascular ring, posterior view
Vascular ring
Normal anatomy Vascular ring
Lateral view Esophagogram

Aorta

01JSMl(WlltliLll(

Causes of stridor in infants & toddlers

Acute

• Parainfluenza virus , most cases in fall/winter

Croup
• lnspiratory or biphasic strider, "barky" oough, infectious symptoms

• ± Choking episode
Foreign body aspiration
• lnspiratory strider &/or wheeze, focally diminished breath sounds

Chronic

• "Floppy" supraglottis, prominent age 4-8 months

Laryngomalacia
• lnspiratory strider worsens when feeding, crying , or supine; improves when prone

• Great vessels encircle & compress trachea

Vascular ring
• Biphasic strider that improves with neck extension

• Hemangiomas enlarge in the first few weeks of life

Airway hemangioma
• Worsening biphasic strider, concurrent skin hemangiomas ("beard distribution")

Murmur:

pg. 122
 Benign vs pathologic murmurs
Benign Pathologic

• Infants: poor weight gain,

respiratory distress, difficulty
• Asymptomatic
feeding
History • Normal growth
• Older children : exertional fatigue ,
• No significant family history
chest pain, syncope
• Family history of SCD or CHD

• Early or midsystolic • Holosystolic or d ia stolic

• Musical or vibratory • Harsh
Munmur
• Grade 1- 2 intensity • Grade ~3 intensity
characteristics
• Decreases or d isappears with • Intensity persists with standing &
standing & Valsalva maneuver• Valsalva maneuver

• Central cyanosis
• Normal vital signs
Other • Loud, fixed , or single S2
• Normal S1 & S2
findings • Weak femoral pulses
• Symmetric pulses
• Hepatomegaly

Management • Reassurance • ECG & echocardiography

•venous hum is a benign murmur exception that increases with standing.

CHO =congenijal heart defect; SCD =sudden cardiac death.

• A grade 2/6 continuous murmur heard at the right supraclavicular region  venous
hum.
• A grade 2/6 continuous murmur in the LUSB is PDA aka not a benign murmur.

Ausculatlon of cardiac murmurs

Murmurs that get Murmurs that get

Maneuver What it does
louder softer

• Early (Strain)
I Venous return • HCM
I LV volume • All others
j Al l murmurs
except HCM & MVP t Gradient Flow through
Valsalva stenotic or regu rgitant
• Late (Release) • MVP
valve during strain
t Venous return j LV vOlume phase
t Righi-Sided t Leaflet prOlapse
murmurs

• HCM
I LVvolume • All others
• I venous return Flow th rough
t Gradient
Standing • Similar to the strain stenotic or regu rgitant
• MVP
phase of Valsalva valve during strain
I LVvOlume phase
t Leaflet prOlapse

• HCM
Preload
• t Venous return Gradient across
• t Afte~oad by • AR
outflow obstruction
Squatting kinking of femoral • MR
Obstruction
arteries • vso
• MVP
• t Reverse flow
LVsize
Leaflet prolapse

• t AftMoad • HCM
• AR (t LV volume)
Handgrlp • t Blood pressure • MR • AS
• t Reverse flow • VSD (I transvalvular
across valve pressure gradient)

:; ~~:r..;!'.~~SO~,,,,."'t::::;;.lhy.;J-~ :.::;::MR=moral r"!)U91atm;

~ UWori<I

pg. 123
Cardiac tamponade:

• Beck’s triad:
o Hypotension (causes tachycardia).
o Muffled heart sounds.
o Also distended JVP.
• Can occur postcardiotomy.
• CXR shows cardiomegaly.
• Treatment:
o Pericardiocentesis.
o Pericardiectomy.

Commotio cordis:

• Fatal ventricular fibrillation after sudden blunt chest trauma.

• In athletes.

Vasculitis:

• Kawasaki disease:

Kawasaki disease
• Medium-vessel vasculitis
Pathophysiology &
• Usually affects children age <5
epidemiology
• t Incidence in East Asian ethnicity
• Fever ~5 days plus ~4 of the following :
o Conjunctivitis: bilateral, nonexudative
o Mucositis: injected/fissured lips or pharynx, strawberry tongue
o Cervical lymphadenopathy: ~1 node > 1.5 cm
Diagnostic criteria
o Rash: perinea! erythema & desquamation; polymorphous,
generalized
o Erythema & edema of the hands/feet, periungual
desquamation

• t Platelets & WBCs; l hemoglobin

• t Acute-phase reactants (eg, C-reactive protein)
Laboratory findings
• t AST &ALT
• Sterile pyuria

Treatment • Intravenous immunoglobulin & aspirin

• Coronary artery aneurysms

Complications
• Ventricular dysfunction

o Not part of criteria:

 Arthritis.
 Hepatitis.
 Sterile pyuria.
 Gallbladder hydrops.
o Atypical presentation: (Lab findings)
 Elevated CRP and ESR.
 Neutrophilia.
 Reactive thrombocytosis.
 Sterile pyuria.

pg. 124
 o ECG and Echocardiography has to be done 6-8 weeks after diagnosis to look
for changes.
o Treatment:
 IVIG for 12 hours. By the end of it, fever should be gone. If not, we
can give 1 more dose of IVIG. An extra dose is optional.
• Should be initiated within 10 days of symptoms onset.
 Aspirin for thrombocytosis. (to prevent MI).
 Last resort: steroids.
o Risk of complications increase with prolonged fevers (>14 days), delayed
treatment with IVIG, and age <1.

Kawasaki disease

Fever for
5days

Cervical lymph Bilateral nonexudative

node >1 .Scm conjunctivitis

• Henoch-Schonlein Purpura: it is a small vessel vasculitis thus skin involvement

o Normal platelet count.
o Atypical presentation: renal biopsy to diagnose.
o Steroids if renal or GI involvement.

pg. 125
 Henoch-Schonlein purpura (lgA vasculitis)

Pathogenesis • Perivenular leukocytoclastic (neutrophils & monocytes) vasculitis

• Deposition of lgA, C3 & fibrin in small vessels

• Cllassic findings•:
0 Palpable purpura/petechiae on lower extremities
Clinical o Arthritis/arth ralg ia
manifestations o Abdominal pain, intussusception
0 Rena l diisease (similar to lgA nephropathy)
• Other findings: scrotal pain & swellling

Laboratory
• Norma l platelet count & coagu lation studies

fi ndings • Norma l to creatin ine

• Hematuria ± RBC casts &/or proteinuria

Management
• Supportive care (hydration & NSAIDs) for most patients
• Hospita llization & systemic glucocorticoids for severe symptoms

~c linical diagnosis req uires purpuric rash plus :?2 additional classic findings.
NSAIDs = nonsteroidal anti-inflammatory drugs; RBC = red blood cell.

• Eosinophilic granulomatosis with polyangiitis:

o Churg-Strauss syndrome.
o C/P:
 Chronic rhinosinusitis.
 Nasal polyps.
 Asthma.
 Prominent eosinophilia.

Hereditary hemorrhagic telangiectasia: Osler-Weber-Rendu syndrome.

• C/P:
o Epistaxis.
o Telangiectasis of the lips, nose, and fingers.
o AV shunts  high output cardiac failure.
• Complications:
o Brain abscesses.
o Stroke due to paradoxical emboli.
o Anemia due chronic GI bleed from telangiectasis in the GIT.

pg. 126
 ENDOCRINOLOGY

Hypopituitarism:

• Deficiency of growth hormones + other hormones  postnatal growth impairment.

- .
Co ngenita I Hypopiituitarlsm
1 Acquired Hypopituitari'sm

Norm I size and weigh at bir h Gradual progression of ymptoms

$eve re growth failure in the · irst year Growth and pubertaf failure
! thyroid and adrenal function
Neonatal! emergencies in infants Expand ing tiumor: headaches, visual
thanges, ! school performa nee,
Dysmorphic features papilledema

• Labs:
o Decreased IGF.
o GH stimulation test.
o TSH, ACTH, DHEA sulfate.
o Gonadotropins, gonadal steroids.
o X-ray.
o Bone age.
o MRI.
• Treatment: GH.
• Indications:
o Documented GH deficiency,
o Turner syndrome.
o End stage renal disease before transplant.
o Prader-willi syndrome.
o IUGR without catch-up growth by 2 years of age.

Empty sella syndrome:

• Sella is enlarged with no discernable pituitary gland.

• C/P:
o Asymptomatic.
o Hypopituitarism.

Pituitary adenoma:

• Benign neoplasm of the anterior pituitary.

• C/P:
o Symptoms of increased hormone secretion.
o Bitemporal hemianopsia.
o Headache.

pg. 127
Thyroglossal duct cyst:

• MCC of midline neck mass.

• Ectopic thyroid tissue.
• US has to be done to make sure that it is not the only thyroid tissue available.
o Screen TSH.
• Surgical excision.

Type 1 diabetes mellitus:

• Autoimmune destruction of islet cells.

• C/P:
o Polyuria, polydipsia, polyphagia.
o Weight loss, DKA.
• Diagnosis:
o Impaired glucose tolerance test.
o Diabetes:
 Symptoms + RBG 200 or more or
 FBG 126 or more or
 Two-hour OGTT 200 or more.
o Diabetic ketoacidosis.
o Check TSH every 1-2 years.
• Treatment:
o Insulin.
• How should patients with T1DM manage their insulin when exercising?
o Exercise increases insulin sensitivity.
o Decrease insulin dosage by 1-2 units per 20-30 minutes of physical activity.

Effect of exercise on insulin & glucose

Normal state Insulin-treated state

Skeletal m_
u scle ] Skeletal muscle ]
contraction contraction

l l
t Glucose uptake by ] t Glucose uptake by ]
muscle cel ls muscle cells

l I l
t Insulin release
t Counte rregulatory hormones
Insulin levels not
physiologically regulated
l
l l
t Endogenous glucose Impaired endogenous
production glucose production

Limits muscle glucose Persistentl y high muscle

upta ke glucose uptake

l l
Glucose levels
l I
Risk of
mainta ined hypoglycemia

© UWortd

pg. 128
Diabetic ketoacidosis:

• Following an infection in a type 1 DM patient.

• C/P:
o Dry mucous membranes.
o Polyuria.
o Decreased level OC.
o Kussmaul respiration.
o Diffuse abdominal pain.
o Metabolic acidosis.
• Lab findings:
o Ketosis.
o Hyperglycemia.
o Osmotic diuresis leading to depletion of potassium.
• Management:
o Correct hypovolemia through IV isotonic saline infusion.
o Hypokalemia ruled out  insulin infusion should be initiated to reduce
hyperglycemia.
o Dextrose started when blood glucose drops between 250 mg/dl  300 mg/dl.
o Regularly monitor potassium.
• Complication:
o Cerebral edema in the first 12 hours after treatment initiation.
 Monitor for mental status changes and signs of increased intracranial
pressure.

Diabetic ketoacidosis in children

• Polyurialnocturia
• Polyd ipsia, polyphag ia
• Vomiting, abdomina l pain
Clinical features
• Weight loss, fatigue
• Kussmaul respi rations (deep, rapid breathing)
• Dehydration

• Glucose >200 mg/dl

• Bicarbonate <15 mEq/L
Laboratory fi ndings • pH <7.3
• Anion gap >14
• Serum/urine ketones

Management
• 10 mUkg isotonic fluid bolus over 1 hou r
• Insulin infusion+ isotonic fluids with potass ium

Complications • Cerebral edema

Adrenal Insufficiency:

o C/P:
o Lethargy.
o Weight loss.
o Anorexia.
o GI complaints.
o Hypotension.
o Decreased serum glucose.
o Dilutional hyponatremia (increased ADH).
o Hyperpigmentation of the gym and skin (increased MSH).
o Normal anion gap metabolic acidosis.

pg. 129
 o Treatment:
o Glucocorticoids plus fludrocortisone.

Congenital adrenal hyperplasia:

o Cosyntropin test is the golden standard for diagnosis.

o 21-hydroxylase deficiency:
o Responsible for converting 17-hydroxyprogesterone to 11-deoxycortisol.
o C/P:
 Classic: presents in the neonatal period.
• Adrenal insufficiency.
• Ambiguous genitalia.
• Virilization of females.
o Clitoral enlargement may look like hypospadias.
• Salt-wasting.

Classic congenital adrenal hyperplasia

• Autosomal recessive
Pathogenesis
• 21 -Hydroxylase deficiency

• Ambiguous genitalia in girls

• Salt-wasting syndrome•
Clinical
o Affects most girls & boys
presentation
o Hypolension, dehydration &
vomiting

• L Sodium, t potassium, ! glucose

Laboratory findings
• i 17-Hydroxyprogesterone

• Glucocorticoids & mineralocorticoids

• High-salt diet
Treatment
• Genital reconstructi11e surgery for girls
• Psychosocial support

•cI1nlcal symptoms & electrolyte abnormalities develop at age 1-2 weeks.

 Non-classic: late onset.

• Signs of androgen excess.
o Premature adrenarche/pubarche.
o Severe cystic acne resistant to treatment.
o Accelerated linear growth.
o Advanced bone age.
• Normal electrolytes.

Nonclassic congenital adrenal hyperplasia

• Autosomal recessive
• ! 21-hydroxylase activity
Pathophysiology
• Normal gluco- & mineralocorticoids
• t Androgens

• Early pubic/axillary hair growth

• Severe acne
Clinical features . Hirsutism & oligomenorrhea in girls
• t Growth velocity & bone age
• t 17-hydroxyprogesterone level

Treatment • Hydrocortisone

pg. 130
 21-hydroxylase deficiency

Zona g lo merulosa Zona fa sc ic u lata Zona reticularls

Cholesterol

$,de Chllln
deavage enzyme
j
, 7o-h)"d,oxylou
Pregnenolone ----1►~ 17-hydroxypregnenolone _____. Oehydroep,androsterone

Progesterone

I
I l a -11)/dtoxylase
► 17-hydroxyprogesterone

I
_____. Androstenedione J
I I
21-h;,/lv ylaso 1 21-h~yl••• I
I I
• y

, 1-deoxycortioosterone 11-deoxyoor1iaol
(weak mlnaralooort1001d)

llf,nytl(Oxylas• j 11t,ny0roxy1a.e Pe<\plle<al bosues

Corticosterone
(weak glucocortlCOld}

Aldostarona j Cort,aol j Testosterone J

J, Mlneralocortlcold J, Glucoco rtlcolda f Androgons

Enzym
Hormona bnorim llti Symp ,om s
d ficl ncy

• l Cortisol & a do t ron • Ambiguous g ni Ii in Iris.

21-hydroxylas • tl tost ro:n ,It · mltlng,
• f 17-1 hy , f K'),

• Am it I in , iris
,, IFlu I nt on,
1113-hydro,xyl s

• I Cortis.cl t os.t on • All p ti nts phenotypically

170 hydroxyl s
• I Min ralocortkoids female
• f Corticosteron (w k • Fluid & sail r t ntion,
glucoc:o rticoi d ) hyp rt ns ion 1

Conn syndrome:

• Hyperaldosteronism.
o Caused by bilateral adrenal hyperplasia or adrenal adenoma.

pg. 131
 • C/P:
o Secondary HTN.
o Chronic headaches.
o Blurry vision.
• Diagnosis:
o Aldosterone to renin ratio.
o Salt suppression test is confirmatory.
o CT or MRI.
 Adrenal venous sampling.

Neuroblastoma:

• Median age is 2 years.

• Arises from neural crest cells.
• N-Myc protooncogene amplification.
• Can arise anywhere along the paravertebral sympathetic chains and adrenal
glands, most commonly in the abdomen.
• C/P:
o Presents as metastasis.
 Long bones, skull, orbital, LNs.
 Bone marrow, liver, skin.
o Abdominal distention.
o Constipation.
o Palpable irregular mass that crosses the midline.
o Hypertension.
o Fever.
o Bluish discoloration periorbital.
o Opsoclonus-myoclonus syndrome: twitching feet and erratic eye movements.
o Spinal cord compression from epidural invasion (“dumbbell tumor”).
o Cervical parasympathetic chain  horner syndrome.
• Diagnosis:
o Firm and nodular mass.
o X-ray and CT shows calcifications and hemorrhages.
o 70% metastatic; to the long bones, skull, bone marrow, liver, lymph nodes
and skin.
o HVA and VMA levels are elevated.
o Biopsy.
o N-myc.
• Prognosis depends on clinical factors, histology and genetic characteristics.
o Children diagnosed at <1 year have an improved prognosis; in fact, tumors
can regress spontaneously in younger patients.
• Treatment:
o Surgery.
o Chemotherapy.
o Radiation.
o Stem cell transplant.

pg. 132
 Neuroblastoma

• Neural crest origin

Pathogenesis
• Involves adrenal medulla, sympathetic cha in

• Median ag:e <2

• Abdominal mass
Clin ical features • Periorbital ecchymoses (orbital metastases)
• Spinall cord compression from epidural invasion {"dumbbell! tumor")
• Opsoclonus-myoclonus syndrome

• Elevated catecholamine metabolites

Diagnostic findi ngs • Small, round blue cells on histology
• N-myc gene amplification

Hypoparathyroidism:

• PTH deficiency.
• Etiology:
o Aplasia/hypoplasia.
o Genetic.
o Postsurgical.
o Autoimmune, idiopathic.
• C/P:
o Myalgia, numbness.
o Laryngeal or carpopedal spasm.
 Chvostek and trousseau signs.
o Hypocalcemic seizures.
• Diagnosis:
o Low calcium.
o High phosphorus.
o Low vitamin D.
o Low PTH.
o Normal or decreased ALP.
o ECG: prolonged QT.
• Treatment:
o Neonatal tetany: IV calcium gluconate plus vitamin D2.
o Chronic therapy: oral vitamin D2, adequate calcium intake, decreased
phosphorus intake.
• Maternal familial hypocalciuric hypercalcemia:
o Asymptomatic might go undiagnosed.
o Maternal hypercalcemia causes fetal hypercalcemia  suppression of
parathyroid glands.
o After delivery, fetus presents with hypoparathyroidism and hypocalcemia.
 Tachycardia, tachypnea, spasms, and seizures.
o Differential diagnosis:
 Digeorge.

pg. 133
 GASTROINTESTINAL

Umbilical hernia:

• Asymptomatic.
• Covered with skin.
• Much lower risk of incarceration/strangulation.
• Repair is rarely recommended until age 5 years.
o Observe until then.
o Hernias bigger than 1.5 cm are less likely to close.
• Unlike inguinal hernia.

Congenital umbilical hernia

Pathophysiology • Incomplete closure of abdominal muscles

• Soft, nontender bulge at umbilicus

Clinical features • Protrudes with increased abdominal pressure
• Typically reducible

• Observe for spontaneous closu re

Management
• Elective surgery around age 5

Pediatric abdominal wall defects:

Pediatric abdominal wall defects

Diagnosis Clinical features Treatment

• Defect at linea alba covered by skin Monitor for

Umbilical
• Sometimes contains bowel spontaneous
hernia
resolution by age 5
• Umbilical cord inserts at apex of defect

• Defect to the right of the cord insertion

not covered by membrane or sk.in Immediate surgery
Gastrosch isis
• Contains bowel after birth
• Umbilical cord inserts next to defect

• Midline abdominal wall defect covered

by peritoneum Immediate surgery
Omphalocele
• Contains multiple abdominal organs after birth
• Umbilical cord inserts at apex of defect

©UWortd

• Gastroschisis:
o C/P:
 Bowel being exposed to amniotic fluid, which causes inflammation
and edema of the bowel wall  necrotizing enterocolitis and short
bowel syndrome.
 Dysmotility:

pg. 134
 • Ileus.
• Delayed gastric emptying.
• Intolerance of feeds.
 Oligohydramnios during fetal life.
o Treatment:
 NG tube to decompress the bowel.
 Antibiotics.
 Sterile saline dressings and plastic wrap “silo” to minimize fluid loss.
 Surgical repair; single-stage closure.

Gastroschisis vs. omphalocele

Gastroschlsis Omphalocele
Eviscerated bowel with no covering membrane Sac containing multiple organs

Emesis in infants:

pg. 135
 Differential dilag:nosis of regiu rgitation & vomiting in infants

D .agno ts Cllnlcal feature M n gement

• Physiolo ic • Re __ u~. nc.

o Asymptomolic • Position in I lh repy
o "'Happy pilt . t•
GiiiiUiroesophii geii,I
re lu1x •
log ERD)
ii .

o
-

lu
1

rhr
•
• If
o nifl nit bitily pl"I
o di · drom &

Milk protein • R ,Urgilat on/vom tin • limin lion of d iry &

allergry • C m oiy roi nfro ,di t
• Bloody tool'

• Prof cu1- non · iliou vomiting • A omin I ullr ound

• Olive hap -d bdomin I m ss • Pyroromyotomy
• Dehydration, weight loss

GElilD ■ • ga&l r oeSOjlhageial relklx lisease.

il:IIMl'Orld

• GERD:

Gastroesophageal reflux

Pathogenesis • Immature lower esophageal sphincter

• Spit-up
Clinical features • Normal weight gain
• No pain/back-arching

• Upright positioning1after feeds

Management • Burping during feeds
• Frequent, small-volume feeds

o Breastfeeding is protective.
o Clinical diagnosis.
 Best test  pH monitoring.
o Treatment:
 1st step: positioning therapy and thickening feeds.
 2nd step: ranitidine (antacid therapy) or PPI.
 3rd step: surgical fundoplication.
• Hypertrophic pyloric stenosis:
o Pathology: hypertrophy of the pylorus leading to gastric outlet obstruction.
o Risk factors:
 Patient is male and between 2-8 weeks.
 Breast feeding is protective. Formula feeds are a risk factor.
 Macrolides is a risk factor.
o C/P:
 Normal feeding then suddenly projectile vomiting.
 Olive shaped epigastric mass with visible peristalsis.

pg. 136
  Confirm with ultrasound: donut sign.
o ABG: hypokalemic, hypochloremic metabolic alkalosis.
o Best test ULTRASOUND.
o Treatment:
 Correct electrolyte imbalance before going into surgery. Otherwise
patient might develop postoperative apnea.
 Pyloromyotomy.

Infantile hypertrophic pyloric stenosis

• First-born boy
Risk factors • Erythromycin
• Bottle feed ing

• Projectile nonbilious emesis

• Poor weight gain
Presentation
• Dehydration
• Ol ive-shaped abdominal mass

• Hypochloremic metabolic alkalosis

Diagnostic studies
• Th ickened pylorus on abdominal ultrasou nd

• Intravenous rehydration
Treatment
• Pyloromyotomy

Laboratory derangements In pyloric stenos ls

Vomi ting

Loss of gastric HCI Loss of Nao, H20

Initiation of Hypovolemia
metabolic alkalosis,
hypochloremia

! Renal perfusion
pressure

+Anglotensin II

i HCO 1 +Aldosterone t K+secretion I

reabsorption

t W secretion Hypokalemia II

Maintenance of
metabolic alkalosls
~ U5loll.SWoM. u.c

• Milk protein allergy:

pg. 137
 Food protein-induced allergic proctocolitis

• Non- lgE-mediated reaction

Pathophysiology • Eosinophilic inflammation of rectosigmoid oolon
• Common triggers: cow's milk & soy proteins

• Eczema
Risk factors
• Family history of food allergies

• Age 1-4 weeks (up to 6 months)

Clinical features • Well appearing
• Blood- &/or mucus-streaked stools (positive Hemoccult)

• Clinical diagnosis confirmed by symptom resolution after protein

Diagnosis & elimination
treatment o Breastfed infants: restrict dairy (± soy) from maternal diet
o Formula-fed infants: switch to hydrolyzed form ula

Prognosis • Tolerance of offending protein by age 1

o Diagnosis by elimination and challenge.

o In the case of persistent bleeding  amino acid formulas.

lgE- & non-lgE-mediated food allergies

Clinical
Example Age Symptom onset
features

• Urticaria
Immediate
lgE mediated Anaphylaxis Any • Vomiting, wheezing
(<1 hr)
• Angioedema, hypotension

Food prote in-

• Painless, bloody stools
induced allergic <6 months Insidious
• Well appearing
proctocolilis
Non-lgE
mediated Food prote in- • Profuse vomiting, diarrhea
induced (± blood), dehydration,
<12 months Within hours
enterocolitis lethargy
syndrome • Ill appearing

pg. 138
 Management of food protein-induced allergic proctocolitis (FPIAP)

Infan t with pres umed )

FPIAP*
I
i i
1 Breastfeeding ) 1 Form ula-feed ing )

t t
Eliminate commo n
triggers from matern al
Switch to hypoallergen ic
(eg, hyd rolyzed) formula
I
diet (eg, dairy, soy)

l
1
Symptom reso lu tion? ]

FPIAP confirmed :
Reintrod uce offending
protein around age 1
+- Yes
1 No---+
Consider eva luation for
alternate diagnosis (eg,
flexible sigmoidosoopy)

•We11-apr,earlng infant age <6 months with blood-streaked stools and n onlocal examination illUWorld

Eosinophilic esophagitis:

Eosinophilic esophagitis

Pathogenesis • Chronic, immune-mediated esophageal inflammation

• Dysphagia
• Chest/epigastric pain
Clinical features • Reflux/vomiting
• Food impaction
• Associated atopy

Diagnosis • Endoscopy & esophageal biopsy (~15 eosinophils per high-power field)

• Dietary modification
Treatment
• ± Topical glucocorticoids

Cyclic vomiting syndrome:

Cyclic vomiting syndrome

• Personal or family history of migraines

History
• Episodes often have identifiable trigger (eg, infection, stress)

• Stereotypical vomiting episodes

o Acute onset of nausea, abdominal pain, headache, vomiting
o Self-limited , lasting 1-2 days
Symptoms
• Between ep:isodes
o Usually asymptomatic
o Often regular intervals (eg, 2-4 weeks)

• History of parent with migraine.

• Treatment:

pg. 139
 o Abortive; triptans.
o Hydration.
o Antiemetics; ondansetron.
o Reassurance of parents.

Bilious emesis:

Evaluation of bilious emesis In the neonate

Bilious emesis )
I
I I

Unstable ] Stable
+
Abdominal x-ray J
I
... ... ... ...
Free air DIiated loops of bowel ) Normal Double bubble sign J
+ +
Emergency
laparotomy
I Increased recta l tone l l
and/or delayed - No Upper GI series Duodena I atres ia
passage of meconium
I
Yes
+
j
Contrast enema Right-sided
ligament of Treitz
I
+ l
Microcolon
+
Rectosigmoid
transition zone
I Malrotation

t t
Meconlum
lieus
I Hlrschsprung
disease l
IIIUWorld

• If there is no evidence of free air and the bowel gas pattern is not suggestive of
duodenal atresia (double bubble) nor distal obstruction (dilated loops), an UGI series
is performed, because most probably its malrotation.
• Annular pancreas:
o Pathology: failure of apoptosis of developing pancreas, causing obstruction of
duodenum.
o Polyhydroamnios.
o Down syndrome association.
o Diagnosis with x-ray showing double bubble. No gas beyond.
o Treatment is surgery.
• Malrotation:
o Pathology: failure of rotation. Normal uterine course.
o No polyhydroamnios.
o No down syndrome on quadruple screen.
o C/P:
 Initially soft and not distended.
 Ischemia:
• Bloody stools.
• Bowel perforation.
• Abdominal distention.
• Peritonitis.

pg. 140
 o Associated with omphalocele, diaphragmatic hernia, and heterotaxy
syndrome.
o Occurs with the following:
 Midgut volvulus:
• C/P:
o Abdominal distention.
o Acute bilious emesis.
o Intermittent: episodic, bilious, vomiting, and abdominal
pain.
 Irritability and inconsolability in infants.
 Duodenal obstruction is caused by Ladd bands (fibrous, peritoneal
tissues that cross the duodenum and attach the cecum to the
abdominal wall).
• Complete obstruction presents acutely in newborns.
• Partial obstruction can present later with chronic vomiting,
feeding refusal, and failure to thrive.
o To confirm do a UGI series (barium swallow). Check for a transition zone
indicating obstruction.
 Ligament of treitz on the right side of the abdomen reflects
malrotation.
 Corkscrew pattern or bird-beak appearance indicates volvulus.
o Treatment: NG tube for suction and decompress in the case of obstruction.
Malrotation cured by surgery (Ladd procedure) especially if volvulus.
 Ischemia or systemic decompensation (shock) are indications of
emergency laparotomy.
 Surgery must be expedited to prevent catastrophic complications. If
present, the volvulus is reduced. The Ladd procedure consists of
fixing the bowel in a non-rotated position to minimize recurrent
volvulus risk.

Malrotation with midgut volvu lus

• Failure of normal embryonic gut rotation

• Narrow mesenteric base allows for t small bowel mobility
Pathogenesis
• Twisting of small bowel around superior mesenteric artery -+ gut ischemia
& necrosis

• Most common in infancy (usually age <1 month)

Clinical • Acute: bilious emesis, abdominal distension
features • Chronic: intermittent abdominal pain & vomiting , failure to thrive
• Untreated: hematochezia, peritonitis & shock

• Abdominal x-ray: ± dilated bowel, air-fluid levels, pneumoperitoneum

Diagnosis • Upper gastrointestinal series (gold standard): ligament of Treitz on
right; corkscrew, or bird's-beak, duodenum

• Emergency laparotomy (to relieve volvulus)

Treatment
• Ladd procedure (to reposition malrotated bowel)
II

pg. 141
 Midgut malrotation & volvulus

Malrotation Volvulus

• Duodenal atresia:
o Prenatal US shows polyhydroamnios due to inability to swallow.
o Down syndrome association.
o Pathology: failure of recanalization leading to complete bowel obstruction.
o Diagnosis with x-ray showing double bubble. No gas beyond.
o Treatment is surgical by removing atretic segment.
• Intestinal (Jejunal and Ileal) atresia:
o Due to vascular accident in utero.
o Risk factor: use of vasoconstrictive medications such as cocaine and
tobacco.
o May or may not have polyhydroamnios.
o X-ray: triple bubble and multiple air-fluid levels.
o No down syndrome association.
o Treatment: surgery  short bowel syndrome.
o Confront mum.
Apple peel atresia

distal to the atresia

© UWMd

pg. 142
 • Meconium Ileus:

Meconium ileus
• lnspissated stool causes obstruction at terminal ileum
Pathophysiology
• Strong association with CF

• Fa ilure to pass meconium within 24 hr of birth

• Abdom inal distension
Clinical features
• No stool in rectal vault
• ± Bilious emesis

• X-ray: dilated loops of small bowel

Workup • Contrast enema: microcolon
• Diagnostic evaluation for CF (eg , sweat test)

• Hyperosmola r enema
Treatment
• ± Surgical management

o Pathophysiology: cystic fibrosis. You will know from prenatal screen.

o C/P: no prenatal care, failure of passing meconium.
o Obstruction at the level of the ileum.
o Diagnosis: x-ray will show the transition zone and the plug.
o Contrast enema: microcolon or Neuhauser sign: soap bubble appearance.
o Management:
 Acutely: hyperosmolar enema (gastrograffin). Surgery if enema
doesn’t work.
• Hirschsprung disease:
Hirschsprung dise.ise

o Can present with FTPM and constipation (later at the age of 2).
o Pathology: failure of migration of inhibitory neurons into the rectum. The more
proximal the more severe.
o Down syndrome association.
o Failed development of the enteric nervous system in the rectosigmoid.
o C/P:
 Palpable colon.
 Explosive diarrhea on DRE. (squirt sign)
 Or chronic diarrhea with overflow incontinence.
 Poor feeding.
 Abdominal distention.
 Failure of passing meconium.
 Biliary emesis.
o Diagnosis:

pg. 143
 X-ray.

Contrast enema: transition zone and dilated megacolon.

Standard of diagnosis: rectal suction biopsy.

Rectomanometry.

• Used if rectal biopsy was equivocal.
o Treatment:
 Resection of aganglionic segment.

Hirschsprung disease (congen ital aganglionic megacolon)

Pathology • Failed neural crest cell migration to distal colon

• Neonates: Delayed passage of meconium, bilious vomiting , ±

Symptoms enterocolitis
• Children/adolescents: Chronic constipation, failure to thrive

• Distended abdomen
Physical • Tight anal sphi ncter
examination • Absence of stool in rectal vault
• Forceful stool expulsion on recta l examination

• Rectal suction biopsy (gold standard)

Diagnosis
• Anorectal manometry, contrast enema (adjuncts)

Management • Surgical resection of agang lionic segment

Delayed passage of meconium

Hirschsprung disease Meconium ileus

• Obstruction by inspissated
Pathophysiology • Failure of neural crest cell mig ration
stool

Level of obstruction • Rectosigmoid • Ileum

• Increased tone • Normal tone

Rectal examination
• Positive squirt sign• • Negative squirt sign•

Meconium
consistency
• Norma l • lnspissated

• Dilated proximal colon ± small

• Dilated small bowel
Imaging bowel
• Microcolon
• Narrow rectosigmoid

Associated disorder • Down syndrome • Cystic fibrosis

•Expulsion of gas/stool on rectal examination.

Imperforate anus:

• Part of VACTERL.
• C/P: no anal opening, there might be passage of stool through fistula.
• Diagnosis: x-ray.
• Treatment:
o Mild: fix it now by surgery.
o Severe: colostomy then reverse later.
• VACTERL stands for:
o Vertebral anomalies.
o Imperforate anus.
o Cardiac.
o TE fistula.
o Renal.

pg. 144
 o Limb.
• So before surgery do:
o US for the sacrum.
o X-ray for anus.
o Echo for heart.
o Catheter and x-ray.
o Voiding cystourethrogram.
o X-ray of the wrist.

Constipation (Voluntary Holding) in children:

• C/P:
o Straining with passage of hard stools.
o Crampy abdominal pain.
o Less than or equal to 2 stools per week.
• Clinical diagnosis.
o X-rays can be used to rule out air-fluid levels and free peritoneal air if
constipation was severe enough to cause abdominal pain and vomiting.
• Complications:
o Anal fissures.
o Hemorrhoids.
o Encoparesis: fecal incontinence.
 The internal sphincter relaxes in response to the increasing pressure
of the stool withholding.
o Enuresis/ UTI.
 Enuresis is urinary incontinence due to the stool burden decreasing
the bladder capacity.
o Vomiting.
 If it progressed into obstructions.
 Occurs in severe stages.
• Treatment:
o Increased dietary fibers.
o Limit cow’s milk intake to <24 oz.
o Laxative.
 Polyethylene glycol and mineral oil until stool softens.
 Enema used if oral laxatives are not helpful.
o Sit on toilet after each meal.

pg. 145
 Pediatric functional constipation

• Initiation of solid food & cow's milk

Risk factors • Toilet traini ng
• School entry

• Painful/hard bowel movements

Clinical features • Stool withholding
• Encopresis (fecal incontinence)

• Delayed passage of meconium

• Fever or vomiting
• "Ribbon" stools
Alarm signs
• Poor growth
• Severe abdominal distension
• Abnorma l examination findings (eg, displaced anus, tuft at gluteal cleft)

• Anal fissu re
Complications • Hemorrhoids
• Enuresis/urinary tract infections

• t Dietary fiber & water intake

• Limit cow's milk (<24 oz/day)
Treatment • Laxatives (eg, polyethylene glycol)
• Age-appropriate toileti ng guidance
• ± Enemas/suppositories

Pediatric constipation

Pathologic Functional

• Delayed meconium passage • Solid food introduction

Risk factors • Down syndrome (associated with HD • Toilet training
& intestinal atresia/stenosis) • School entry

• Absence of pathologic
• Poor weight gain or linear growth
features
• Narrow (ribbon ) stools
History • Painful, infrequent, large-
• Blood mixed in stool
ca liber or pellet-like stools•
• Bilious vomiti ng or fever
• Fecal soiling (encopresis)

• Displaced anus, t rectal tone, or • Absence of pathologic

Examination . sacral anomalies (eg, hair tuft)

Abnormal lower extremity neurologic
findings (eg, weakness)
features
• Mild abdominal distension
• Anal fissure (± rectal
• Severe abdomina l distension bleedi ng)

• Age-a ppropriate toileting

• Work up for orga nic cause
plan
o Common (eg, celiac disease,
• Dietary changes (i
Management hypothyroidism)
fiber/water)
o Urgent (eg, HD, CF, spinal
• Laxatives {eg, polyethylene
dysraphism)
glycol)

•Benign features refractory to functional constipation management may also be pathologic.

CF = cystic fibros is; HD = Hirschsprung disease.

pg. 146
 Approach to the straining infant

Straining infant j
I
t t
DI-appearing or
red flags• present
I Well-appearing j

!
Serious organic cause
!
Loose stools ± I
i
Normal stool
l
Hard or I
• Hirscllsprung disease mucus & blood consistency pellet-likes ools
• Cystic fibrosis
• Spinal dysraphism
I ! ! !
• Hypothyroidism
Food induced
protein enterocolitis
I Normal infant
dyschezia
I Functional
constipation
(± anal fissure if
blood present)

•Severe abdominal distention, abnormal recta l tone or

sacral findings, delayed passage of meconium, failure to thrive CUW-,ld

Infant constipation

Functiona l Pathologic causes

• Introduction of solid foods • Down syndrome

Risk factors • l Water intake • Abnormal physical findings (eg,
• l Fiber diet displaced anus, tuft at gluteal cleft)
• Infrequent defecation • Delayed passage of meconium
• Hard, painful stools • Fever or vomiting
Clinical
• Large-caliber or pellet-like • Ribbon stools
features
stools • Poor growth
• ± Anal fissure • Severe abdominal distension

• Workup for serious organic cause

• Add und igestable, osmotically
• Hirschsprung disease (barium enema)
Management active carbohydrate (eg, prune
• Cystic fibrosis (sweat chloride test)
or apple ju ice/puree)
• Spinal dysraphism (MRI)

Malabsorption syndromes:

Fat Carbohydrate Protein

Screen Stoo l fa t Reducin g substances a-1 antitryps in

Best 72 h st ool fa t Breath hydrogen

• Most useful screening test is stool for fat  sudan red stain.
• Gold standard  72-hour stool for fecal fat.
• Celiac disease:
o GI symptoms:
 Abdominal pain.
 Nausea or vomiting.
 Diarrhea.
 Flatulence and bloating.
 Extraintestinal:
• Short stature and weight loss.
• Iron deficiency anemia due to duodenal villus atrophy.
• Dermatitis herpetiformis.

pg. 147
 o Treatment: dapsone and gluten free diet.
o Diagnosis:
 IgA anti-transglutaminase.
 Antiendomysial antibodies.
 Duodenal biopsy: best test.
• Flattened villi.
• Intraepithelial lymphocytes.
o Complications:
 Increased risk of small bowel carcinoma and T-cell lymphoma
(EATL=enteropathy associated T-cell lymphoma).
o Treatment:
 Iron supplementation.
 Gluten free diet.

Celiac di sease

• First-degree relative with celiac disease

Risk factors • Down syndrome
• Autoimmune disorders (eg, type 1 diabetes, autoimmune thyroiditis)

Classic
• ± Abdom inal pain, distension, bloating, diarrhea
symptoms

• General: failure to thrive/weight loss, short stature,' delayed

puberty/menarche•
• Oral: ename l hypoplasia, atrophic glossitis
Extraintesti nal
• Dermatologic: dermatitis herpetiformis
manifestation s
• Hematologic: iron deficiency anemia (due to malabsorption)
(may be sole
• Neuropsychiatric: peripheral neuropathy, mood disorders (eg,
presentation)
anxiety, depression)
• Musculoskeletal: arthritis, osteomalacia/rickets• (d ue to vitamin D
malabsorption),

• t Tiss ue transglutaminase lgA antibody

Diagnosis • Proximal intestinal biopsy (villous atrophy, crypt hyperplasia,
intraepithelial lymphocylosis)

• Gluten-free diet
Treatment
• Dapsone for dermatitis herpetiform is

• Pediatric findings.

• Cystic fibrosis:
o Autosomal recessive, CFTR gene mutation.
 Deletion of Phe508.
o Identified by a newborn screen or meconium ileus at birth.
o C/P:
 Gastrointestinal:
• Failure to thrive.
• Biliary cirrhosis.
• Obstruction:
o Meconium ileus and distal intestinal obstruction
syndrome.
• Pancreatic
o Exocrine pancreatic insufficiency.
 Steatosis, failure to thrive, and vitamin
deficiencies.
o CF-related diabetes.
 Respiratory:

pg. 148
 • Obstructive lung disease  bronchiectasis.
• Recurrent pneumonia.
o Staph aureus in children. Pseudomonas in adults.
• Chronic rhinosinusitis.
 Reproductive:
• Infertility, in males mainly.
o Absence of vas deferens due to accumulation of
inspissated mucus.
• Infertility in females:
o Thick mucus and malnutrition.
 MSK:
• Osteopenia  fractures.
• Kyphoscoliosis.
• Digital clubbing.
o Treatment:
 Give ADEK.
 Pancreatic enzymes.
 Pulmonary toilet to prevent respiratory infection.

Cystic fibrosis
• Mutation (ll.F508) of CFTR gene
Pathogenesis
• Autosomal recessive

• Recurrent sinopulmonary infections

• Intestina l obstruction (eg, meconium ileus)
Clinical features
• Pancreatic insufficiency & diabetes
• Male infertility

• Elevated sweat chloride levels

Diagnosis • CFTR mutation on genetic testing
• Abnormal nasal potential difference

• Nutritional support
Management • Airway clea rance
• Antibiotic coverage (Staphylococcus aureus, Pseudomonas aeruginosa)

Tracheo-esophageal fistula:

• Pathology: atresia and fistulation. Most common is blind esophagus and fistula
connection between trachea and distal esophagus.
• VACTERL association.
• C/P:
o Choking.
o Coughing.
o Regurgitation of initial feeds.
o Aspiration pneumonia; acid from stomach to trachea.
 Especially the H type.
• Diagnosis:
o Inability to pass enteric tube beyond 10-15 cm.
o Rule out VACTERL.
 Renal US, echocardiography, contrast enema, and limb radiograph.
• Treatment:
o Parenteral nutrition and surgery.

pg. 149
 Tracheoesophageal fistula with esophageal atresia
• Defective division of foregut into esophagus & trachea
Pathogenesis • Most common ly results in proximal esophageal pouch & fistu la between distal
trachea & esophagus

• Coughing, choki ng, vomiting w ith feed ing

Clinical
features
• Excessive ora l secretions
• Commonly part of VACTERL association

Diagnosis
• Inability to pass enteric tube into stomach
• X-ray: enteric tube coiled in p roxima l esophagus

• Surgical correction
Management
• VACTERL screening: echocard iography, rena l ultrasound

VA CTERL = Vertebral, A nal, Card iac, TracheoEsophageal, Renal, Limb defects.

Choanal atresia:

• C/P:
o Cyanosis is aggravated by feeding and relieved by crying.
 Bilateral obstruction presents with cyclic cyanosis.
o Failure of the posterior nasal passage to canalize.
 Either bony.
 Or membranous.
o Part of CHARGE.
• Diagnosis:
o Passage of a catheter through the nasal cavity is not possible.
o CT or contrast rhinography in the supine position is confirmatory.
o OBTAIN ORAL AIRWAY.
o Transnasal repair.
o CHARGE: screening echocardiogram and renal ultrasound.

CHARGE syndrome
• Q_oloboma
• !:!.ea rt defects (eg, TOF, VSD)
Characteri stic • 8Jresia choanae
features • Retardation of growth/development
• !,_enitourinary anomalies
• !;_ar abnormaliti es (eg, hearing loss)

• Anosmia
Additional key fi ndings • Cleft lip/palate
• Hypotonia

Diagnosis
.
• Clinical
CHD7 gene testing

Foreign body ingestion:

• C/P:
o Difficulty swallowing.
o Feeding refusal.
o Vomiting.
• Coins most commonly ingested foreign body.
• Batteries:

pg. 150
 o External current  tissue corrosion.
o Alkaline battery solution  liquefactive necrosis.
o Pressure necrosis.
o Esophageal ulceration and perforation, hemorrhagic shock, and death.
• Use x-ray to visualize.
o If it was not visualized  CT.
• If coin was visualized in the esophagus and patient was asymptomatic  child can
be observed for 24 hours after ingestion.
• Removed with flexible endoscopy if symptomatic.
o Both diagnostic and therapeutic.
• Dangerous symptoms such as hematochezia, melena, and severe abdominal pain
are indications for surgical removal.
• Immediate endoscopy required to remove batteries, magnets and sharp objects (fish
bone) if visualized in the esophagus, otherwise it will pass uneventfully.
o Position of the negative pole of the battery should also be assessed during
endoscopy since it causes the most severe necrotic injury.
o No evidence of perforation  irrigation of acetic acid.
o Battery on CXR (to differentiate it from flat coin): halo or double ring around
the circular object on AP view. A step off or beveled edge on lateral view.
• Other indications of immediate endoscopy:
o Sharp objects in the esophagus, stomach, or proximal duodenum.
 If asymptomatic and distal to proximal duodenum  observation with
repeat x-ray in 12-24 hours.
o Symptoms of esophageal obstruction.
o Symptoms of respiratory compromise.
o Button battery in the esophagus (due to risk of electrical and chemical injury).
 Beyond the stomach  colonoscopy or followed with serial x-rays
(every 4-6 hours).
o Magnets in the esophagus or stomach (due to potential for bowel entrapment
as a result of magnetic attraction across intestinal segments with buttons or
belts.)

Suspected foretgn body

ingestion

!
PA & lateral x-rays
(CT scan~ object not visible on x-ray)

A
High-risk features· No hlgh-nsk features

!
Endoscopic removal
!
Sena! x-rays

removal
A
No transit: Endoscopic Object moving distally
No ,ntervenbon

PA • po1t.-o1n1onor
•Pauent has respw-11.:wy ot ObSltUCUve 1ymptomt,
oqect Is a button batte,y, mag,et. or sh8'l) Item C) IJWotld

pg. 151
Reye syndrome:

Reye syndrome

• Aspirin use in children during viral infection (eg , influenc2.a, varicella)

Pathophysiiology • IMicrovesiicular fat deposits in the liver
• Cerebra l edema

• Acute liiver failure

0 Hepatomegaly without jaundice
Cliniical feature.s
• Rapidly progressive encephalopathy
o Vomiting, lethargy, seizure, coma

• i AST, ALT, ammonia

Laboratory find in gs
Treatmen t
• i PT, I NR, PTT
• l Glucose
• Metabolic acidosis
• Normal bilirubin
• Supportive

• Microvesicular steatosis.
• Cause of death: elevated intracranial pressure.
• Aspirin avoided in children except in Kawasaki and rheumatological disease.

Toxic-metabolic encephalopathy* & cerebral edema

Diagnosis Precipitating factors

Hypoxic-ischemic • Near-drowning event

encephalopathy • Choking episode

Diabetic ketoacidosis • Poorly controlled diabetes mellitus

• SIADH
Hyponatremia
• Rapid correction of hypematremia

• Viral or autoimmune hepatitis

Liver failure
• Hepatotoxic drugs (eg, acetaminophen)

Reye syndrome • Aspirin administration for viral illness in children

"Acute cerebral dysfuncuon/mental status changes in the absence of primary CNS

pathology.
SIADH = syndrome of inappropriate antidiureUc hormone secretion.

Meckel’s diverticulum:

pg. 152
 Mecke l diverticulum

Rule of 2s:
• 2% prevalence
Epidemiology • Presentation often by age 2
• 2:1 male/female ratio
• Location with in 2 feet of ileocecal valve

• May be asymptomatic, incidental fin ding

Clinical
• Painless lower gastrointestina l bleeding
presentation
• ± Anem ia

• Intussusception
Complications • Volvulus
• Intestinal obstruction

Diagnosis • Technetium-99m pertechnetate scan

• Incomplete obliteration of vitelline duct.

• Technetium-99m pertechnetate false positive:
o Intussusception.
o Inflammatory bowel disease.
• Most diverticula contain heterotopic gastric tissue and less commonly pancreatic
tissue.
o Gastric tissue might cause ileal ulceration and bleeding.

Meckel scan

Arr_l!MIII

[ Stomach

lllrTUIM
-1
I.IIT)5HIII

Meckel diverticulum

-
UT <110 M1 II
- -
MT )0 MIii ANT !I~ Mlll
Normal lti UW01

Intussusception:

pg. 153
 l1
ntussusception

. Recent viral illness or rotavirus vaccination

• Pathological lead point
o Congeniital malformation of the Intestines (eg, Meckel diverticulum)
Risk factors Q Henoch-Schonlein purpura
o Celiac disease
0 l1ntestinal tumor
0 Polyps

• Sudden, intermittent abdominal pain,

Cl,inical • "Currant jelly" stools
1
presentatlon • Sausage-shaped abdominal ma.ss
. Lethargl( or altered mental status

Diagnosis • "Target sign" on ultrasound

• Ai r or saline enema
Tr&atment
• Surgery for removal of lead point

• MCC of intestinal obstruction <5 years of age.

• Types:
o Ileocolic is idiopathic.
o Ileoileal is HSP.
 Due to hematoma.
• Suspect lead point when:
o Recurrent.
o Atypical age.
o Atypical location (small bowel into small bowel).
o Persistent rectal bleeding despite reduction of intussusception.
• Hematochezia is a late sign and is indicative of bowel ischemia.
• Laparotomy is indicated:
o Enema reduction is ineffective.
o Pathological lead point is identified.
o Patient has signs of perforation.

Mesenteric adenitis:

• Caused by salmonella enteritidis or any infection.

• C/P:
o RLQ abdominal pain.
o Abdominal guarding.
o Tenderness.
• CT scan.

Crying infant:

pg. 154
 Crying in young infants
Diag1nosis Key featu res

Normal • Intermittent, consolable, <3 hr/day

• ~3 hr/day (usually evening}, ~3 days/week
Colic
• Healthy infant age, <3 months

Gastroesoplhageal • Freq uent spit-up

reflux disease • Back-archi ng after feeding

• Acute otitis media: bulging tympanic membrane, ± fever

Infection
• Meningitis: fever, lethargy, bu lging fontanel
• Septic arthritis: fever, limited extremity movement
• UTI: fever, vomiting, poor feeding

lntussusception • Episodic irritabiility with legs drawn to abdomen

• ± Billious emesis, bloody stools

Torsion • Testicular swelling or abdominal distension (ovarian}

• Hair tourniquet: haiir accidentally wrapped around digit

Trauma • Corneal abrasion: teaning, photophobia; + fluorescein test
• Abuse/fracture: bruising, laceration, asymmetric movements

• Colic:
o Diagnosis of exclusion.
o Management:
 Reassurance and support.
 Soothing techniques; pacifier, holding, rocking, or swaddling the baby;
and minimizing environmental stimuli (dark room).
 Adjust feeding technique (upright feeding position in bottle-fed
babies).

Caustic ingestion:

pg. 155
 -
Causti c ingestion

Chemical bum or liquefaction necrosis resulting in:

Clin ical • Laryngeal damage: hoarseness, stridor
features • Esophageal damage: dlysphagia, odynophag ia
• Gastric damage: epigastric pain, bleed ing1
• Secure airway, breathing , circu 11auon
• Decontamination : remove, contaminated cl~othing & visible chemicals;
!M anagement irrigate exposed skin

• Chest x-ray if respiratory symptoms

• Endoscopy within 24 hr
• Upper airway comprom ise
• Pertoration
Complications • Strictures/stenosis (2-3 weeks)
• Ul!cers
• Cancer
-
• Contraindications: induce vomiting, neutralize with weak acid.
• Barium contrast studies after 2-3 weeks to assess for esophageal strictures or pyloric
stenosis.
• NG tube only inserted under direct visualization of endoscopy due to risk of
perforation.

Dehydration:

• Mild (3-5%):
o Decreased intake or increased fluid loss with no clinical symptoms.
o Treat with oral rehydration therapy.
• Moderate (6-9%):
o Decreased skin turgor, dry mucous membranes, tachycardia, irritability,
delayed capillary refill (2-3seconds) and decreased urine output. NORMAL
BP.
o ORS or IV isotonic saline.
• Severe (10-15%):
o Cool, clammy skin, delayed capillary refill (>3seconds), cracked lips, dry
mucous membranes, sunken eyes, sunken fontanelle, tachycardia, lethargy,
minimal or no urine output. LOW BP.
o IV isotonic saline.
• Nasogastric fluids are preferred for mild to moderate dehydration associated with
gastrointestinal disease.

Dehydration:

• Blood pressure: (age x 2) +70 and GRAPHS.

o <1 month: 60 mmHg.
o 1 month-1 year: 70 mmHg.

pg. 156
 o 1 year-10 years: the equation.
o >10 years: 90 mmHg.
• Shock therapy:
o 20 ml/kg bolus over 10 minutes. 10 ml/kg in the case of DKA, cardiogenic
shock and renal insufficiency.
• Deficit:

ESTIMATION OF DEFICIT
Degree of Age<2years >2years
Dehydration

Mild ~5% (50ml/kg) 3% (30ml/kg)

Moderate ~10% 6% (60ml/kg)

(100ml/kg)
Severe ~15% 9% (90ml/kg)
(150ml/kg)

o Weight x 10 x percentage.
o Half of it over 8 hours, the other half over 16 hours.
o Remove shock therapy from deficit.
o Give KCL when urine output returns.
• Maintenance: give it with deficit. Half of It over 8 hours, the other half over 16 hours.
Normal saline plus dextrose is used.

F11uld Volum.,kg per

req;ulrement/ 24 h hour (a:ppn:oomat@I
100 ml/kg 4
50 rn.1/kg 2
Subsequent kg 20 rn.1/kg

Or

o If someone weighs between 10-20:

 40 + (kgs above 10 x 2).
• For example: 12 kgs
o 40 + (2 x 2) = 44 ml/hr.
o If someone weighs more than 20:
 60 + (kgs above 10).
• For example: 60 kgs
o 60 + 40 = 100 ml/hr.

Or

o Body surface area (most accurate method):

 Square root ((height x weight)/3600))
 Insensible water loss: (# x BSA)
• 500 in preterm.
• 400 in children.

pg. 157
 • 300 in adults.
Fluid intake: Insensible water loss + urine output
• Input should be greater than the output. Except in renal failure,
heart failure, and pulmonary edema.
• Urine output: 2-3 ml/kg/hr.
 Example: 10 kg 88 cm 1 year old .
• Square root ((88 x 10)/3600)) = 0.5.
• 0.5 x 400= 200.
• Urine output: 3 x 10 x 24 hrs = 720.
• 720 + 200 = 920.
• Types of dehydration:
o Hypernatremic dehydration:
 ECF > ICF.
 Less severe symptoms.
• Skin turgor and capillary refill not reliable.
• BP is not affected.
 Fluid therapy: 10 ml/kg bolus, and deficit given over 48 hours instead.
o Hyponatremic dehydration:
 ICF > ECF.
 Symptoms are more severe.
 Normal fluid therapy.
 If there are seizures (due to cerebral edema): giver hypertonic saline
with the usual fluid therapy.
• Not available  mannitol.
o Sodium should not be corrected more than 12 mEq/L/day.

Inflammatory bowel disease:

• Ulcerative colitis:

Criteria Mild Moderate Severe

Bowel movements/day <4 4-6 > 6

Blood in stools Interm itten t Frequent Continuous

Temperature < 37.S" C (99.s'' F) ~ 37.8°C (99.68°F) > 37.S"C (100.4"F)

Heart rate < 90/ min ~ 90/min > 90/min

Hemoglobin > 11.5 g/dl ~ 10.5 g/d l < 10.5 g/dl

ESR < 20 mm/h ~ 30 mm/h > 30 mm/h

o HLA-B27 association.
o Common in Ashkenazi jews.
o pANCA association.
 Primary sclerosing cholangitis.
o Ascending inflammation beginning in the rectum and spreading continuously
in the colon.
o C/P:
 Bloody diarrhea with mucus.
 Fecal urgency.

pg. 158
  Abdominal pain and cramps.
 Tenesmus.
 Complications: toxic megacolon.
o Labs:
 Anemia.
 Leukocytosis.
 Elevated inflammatory markers.
 Thrombocytosis.
 Stool analysis: calprotectin.
 Lead pipe on radiograph.
 Colonoscopy.
 Histology: crypt abscesses.
o Treatment:
 Mild: mesalamine.
• If not tolerated  topical steroids.
 Moderate: mesalamine, topical steroids, and anti-TNF therapy.
 Severe: mesalamine, topical steroids, anti-TNF therapy, thiopurines.
 Proctocolectomy: curative option.

Crohn disease Ulcerative colitis

• Extending from the mouth to

the anus (mostly ileum & colon)
• Rectum (always) & colon
Invol vement • Rectum spared
• Continuous lesions
• Perianal disease
• Skip lesions

Microscopy • Noncasealing granulomas • No granulomas

• Transmural inflammation
• Mucosal & submucosal
• Linear mucosal ulcerations
Gross inflammation
• Cobblestoning
• Pseudopolyps
• Creeping fat

Cl inical
• Diarrhea (bloody if colitis) • Bloody diarrhea
manifestations

• Fistulas
Intestinal
• Strictures (bowel obstruction) • Toxic megacolon
complications
• Abscesses

Acute appendicitis:

• Due to LN hyperplasia in children.

• C/P:

pg. 159
 o Intense periumbilical pain  localizes to RLQ in 12-24 hours.
o Nausea, anorexia, vomiting and low grade fever.
o McBurney’s point tenderness.
o Rebound tenderness.
o Rovsing sign.
o Psoas sign.
o Obturator sign.
• Clinical diagnosis.
o Abdominal US.
 Target sign.
 Wall thickening.
o Abdominal CT.
• Treatment:
o Bowel rest.
o NPO.
o Analgesia.
o Antibiotics; cefazolin and metronidazole.
o Appendectomy.
• Complications:
o Appendiceal phlegmon.
 Treatment: conservative with or w/o appendectomy.
o Gangrenous appendicitis.
 Treatment: immediate appendectomy and IV antibiotics.
o Perforated appendix.
 Treatment: immediate appendectomy and IV antibiotics.
o Appendiceal abscess.
 Treatment: IV antibiotics, CT-guided drainage and appendectomy.
o Pylephlebitis.
 Septic thrombosis of the portal vein.
 Treatment: broad-spectrum antibiotics.

Duodenal hematomas:

• Due to trauma.
• Usually resolves in 3-4 weeks.
• NG tube is used to decompress the stomach and prevent gastric content aspiration.
• TPN used to let the bowel rest and heal.
• Surgery if everything fails.

GI bleed distractors: just reassurance.

o During birth: swallow mum’s blood = melena.
 Do Apt test.
o Epistaxis: kids lean backwards and swallow blood.
o Iron supplementation.
o Beetroot.
o Medications.
o Infectious colitis:
 Fever and bloody bowel movements.
 Don’t treat unless there is a microorganisms or shigella.
 Do stool cultures.
 Enteric antibiotics.

pg. 160
Water-soluble vitamins:

Water-soluble vitam ins

Vitami n Source Deficiency

Whole grains, meat, • Beriberi (peripheral neuropathy,

8 1 (thiamine) fortified cereal , nuts, heart failure)
legumes • Wemicke-Korsakoff syndrome

• Angular cheilosis, stomatitis,

Dairy, eggs, meat, glossitis
82 (riboflavin)
green vegetables • Normocytic anemia
• Seborrheic dermatitis

Meat, whole grains, • Pellagra (dermatitis, diar~hea,

B3 (niaci n)
legumes delusions/dementia, glossitis)

Meat, whole grains, • Cheilosis, stomatitis, glossi1tis,

8s (pyridoxine)
legumes, nuts • Irritability, confusion, depression

Green leafy • Megalobllastic anemi a

8 9 (folate, fol ic
vegetables, fruit, meat,
acid) • Neural tu be defects (fetus)
fortified cereal/grains

• Megalobllastic anemi a
8 12 (cobalamin) Meat, dairy • Neurologic deficits (confusion,
paresthesias, ataxia)

Citrus fruits,
• Scurvy (punctate hemorrihage,
C (ascorbic acid) strawberries, tomatoes,
gingivitis, corkscrew hair)
potatoes, broccoli

© UWorld

• Vitamin B6 deficiency causes thromboembolic disease due to increased

homocysteine concentration.

Fat-soluble vitamins:

• Vitamin A:
o Deficiency:
 Night blindness.
 Photophobia.
 Dry scaly skin.
 Xerosis conjunctiva.
 Xerosis cornea.
 Keratomalacia.
 Bitot spots.

pg. 161
  Follicular hyperkeratosis of the shoulders, buttocks and extensor
surfaces.
o Excess:
 Anorexia.
 Pruritis.
 Irritability.
 Limitation of motion.
 Tender swellings of the bones.
 Alopecia.
 Seborrheic dermatitis.
 Fissuring of the corners of the mouth.
 Increased ICP.
 Hepatomegaly.
 Teratogen:
• Bilateral microtia/anotia.
• Facial nerve paralysis ipsilateral to ear.
• Conotruncal abnormalities.
• CNS malformations.
• No problem if stopped 15th postmenstrual day.
• Vitamin D:
o Deficiency:
 Osteomalacia in adults.
 Rickets in children.
o Excess:
 Nausea.
 Vomiting.
 Confusion.
 Polyuria.
 Polydipsia.
• Vitamin E:
o Deficiency:
 Hemolytic anemia.
 Ataxia.
• Vitamin K:
o Deficiency:
 Coagulopathy.
 Frequent antibiotic use  C.diff.

pg. 162
 Viitamin K deficiiency

• Inadequate dietary inla'ke (eg, malnutrition)

• Disorders offal mala'bsorption
o Cystic fibrosis
o Biliary alresia
Rl9k
factors • D1sord rs of 1ntestln inn mm Uon
11

o C · liac disease
o lnfl rnmatory bowel disease
• Deor,eased production by bacleri 1floia
(eg, lrequont nlibiotic us )

• asy n.iisin
Cllln lc, 1
• Mucos I bleeding
f •t~r ,
• G strolnteslln I bleeding

Laboratory • I F'1 & INR

flndlrn gs • Nonnel a (uni · ss severed · ftciency)

PTT • activated perual thn,n•,opl~tin time; PT • ,prcllmmbtn time.

OUWon<!

 Intracranial hemorrhage:
• Late-onset: between 2 weeks and 6 months.
• Layered, hyperdense fluid collection located in the posterior
ventricles on imaging due to supine positioning.
o Obstruction of CSF outflow  hydrocephalus.

Severe hydrocephalus in a newborn

©UW<><ld

pg. 163
 HEMATOLOGY

RBCS:

Evaluat Ion or aneml a

l Noon
l l
. MCV
MCV
MCV

Hemonrlllage
·• Hemoty
o Intrinsic inh ril d d -r - of
hemcgl " , RBC metnbr ri - ,
oren;zym s
o trirtsic::
Autoimmune
• P roxysmal nodum I
hemogtooiooria
MCV ■ me;m c:OlpUMiuliirWJlum a; Fi!IBC • red blood cell.
ltl UWOlld

Site of Yolk Liver Bone marrow

orylhro polo•I• sac

Primary Gower Fetal Hb HbA

hemoglobin zeta (s) alpha (a) alpha (a)
epsilon(,) gamma (y) beta (Pl

a
50

·5! 40
y

i
C:
:.; 30
.!l

§"' 20

* 10 ~

-
6 12 18 24 30 36 6 12 18 24 30 36 42
Prenatal ~ge (week,) BIRTH Postnatal (weeks)
Hb IE Hemoglotlin.

NORMOCYTIC ANEMIA

pg. 164
Transient erythroblastopenia of childhood:

• Acquired RBC aplasia.

• Occurs in healthy children between 6 months and 5 years old.
• C/P:
o Pallor and decreased activity.
• Labs:
o Normocytic and normochromic anemia ranging between 3 and 8 g/dl.
o Low retics count.

Pure red cell aplasia:

• Associated with thymoma, lymphocytic leukemia, parvovirus B19 infection.

• Diamond Blackfan syndrome:
o Mostly acquired than inherited.
o Intrinsic defect in erythroid progenitor cells causing increased apoptosis.
o C/P:
 Webbed neck, cleft lip, shielded chest, triphalangeal thumb.
o Macrocytic anemia with low reticulocyte count. No hypersegmentation of
neutrophils.
o Elevated HbF on electrophoresis.
o Definitive diagnosis by bone marrow biopsy.
o Treatment: corticosteroids.
 Unresponsive  transfusion therapy.

Diamondl-Blackfan anemia

Pa~hogenesis • Congenital erythroid aplasia

• Craniofacial abnormalities
Clinical findings • Triphalangeal thumbs
• Increased risk of malignancy

• Macrocytic anemia
Laboratory findiings • Reticulocytopeniia
• Normal platelets, white blood cells
Treatment
• Gorficosteroids
• Red blood cell transfusions

Aplastic anemia:

• Congenital or acquired.
o Acquired from drugs, chemicals, idiopathic, viral infections, immune disorders
and thymoma.
o Congenital more common than acquired in children.
o Bone marrow biopsy: hypocellularity and fatty infiltration of the marrow.
o Most common congenital is Fanconi Anemia.

pg. 165
  Autosomal recessive or x-linked mutation of DNA crosslink repair
gene.
 Absent or hypoplastic thumbs.
 First thrombocytopenia, then neutropenia then anemia.

Ap~
lastiic anemia

Multipotent hematopoietic stem cells are destroyed by cytotoxic T ce lls or direct

Pathogenesis cytotoxic injiu ry - bone marrow aplla sia/hypoplasia - lack of circulating peripheral
blood cellls

• Auto~
i mmune
Common • Drugs: cytotoxic chemotherapy, iim munosuppressants, idiosyncratic reactions
triggers • Ionizing radiation & toxi ns

• ~ral i nfections (eg, \riral hepatitis, HIV)

• Anemia (eg , fatigue, weakness, palllor}
Manifestations • Thrombocytopenia (eg, bleediing, bruising}
• Leukopenia (eg, recurrent infections)
Diagnosis • Bone marrow biopsy: hypocellular marrow with abundance of stromall & fat cells
Fanconi anem ia

Pathophysiology • Inherited DNA repair defect

• Bone marrow failure
• Short stature
Cliinicall findings • Hypo-/hyperpigmented macules
• Abnormal thumbs
• Genitourinary malformations

Laboratory tindings
• Pancytopenia
• Positive chromosomal breakage testing
Treatment • Hematopoietic stem cell transplant

in

.19 ear
!Eyes/ea.rs
en , ch ness, elc: .)

pg. 166
 Causes of pancytopenia
• Aplastic anemia

Bone marrow aplasia

• Infection (eg, parvo~irus, HIV, viral hepatitis)
• Nutritional deficiency (eg, ~itamin Bdfolate)
• Medications (eg, hydroxyurea)

• Cancer (eg, hematologic, metastatic)

Bone marrow infiltrat ion • Mye lofi brosis
• Infection {eg, tubercu losis, fungal infection)

• lntravascular (eg, DIC, TTP)

Mature blood cell destruction
• Extravascular (eg, hypersplenism)

Sickle cell disease:

:S c 1le cell . ,,11:em

'"' llliHINJI - ~
·• Aliltosomal lfell85Si!

,., H rrKilylX n mla

nm!illr.i

, .

,., oil
Ae111t1
,.,

• Definitive diagnosis Hb electrophoresis or genetic analysis.

Hemog lobin electrophoresis patterns

Diagnosis Hemoglobin A Hemoglobin S Hemoglobin F

Normal - 99% 0% <1%

Sickle cell disease 0% 85-95% 5-15%

Sickle oell trait 50-60% 35-45% <2%

~UWorld

pg. 167
 • Vaso-occlusive:
o Hand-foot syndrome or dactylitis is the earliest manifestation of vaso-
occlusion in sickle cell anemia.
 Pathophysiology: vascular necrosis of metacarpals and metatarsals.
 C/P: pain and swelling in the hand and feet. Sometimes fever.
 X-ray: osteolytic lesions.
o Cardiac disease due to chronic anemia and myocardial microvasculature
infarction.
 C/P: chest pain.
o Stroke in children is uncommon.

Stroke in sickle cell disease

• lschemic stroke
0 Intimal hyperplasia and stenosis (vasculopathy)
o Adhesion of sickled red blood cells to vasculature
Pathogenesis
• Hemorrhagic stroke
o Weakened cerebral vessels
o Cerebral aneurysm rupture

• Focal neurologic symptoms (eg, hemiparesis}

Presentation • Seizure
• Altered mental status

• Brain MRI : ischemic stroke (large vessel region or watershed area}

Imaging
• Head CT scan: hemorrhagic stroke

• Exchange transfusion
Treatment
• Simple transfusion if exchange transfusion is unavailable

• Transcranial doppler screening during childhood

Primary prevention • Hydroxyurea
• ± Chronic transfusions

o Acute chest syndrome: manage with exchange transfusion.

Chronic dyspnea in sickle cell disease

Cause Symptoms Diagnostic findings

• lntermittenUchronic wheezing
• Pulmonary function testing showing reversible
Asthma • May be worse at night or with exercise or
airway obstruction
upper respiratory infection

• Exertional dyspnea • Tricuspid regurgitation on echocardiography

Pulmonary
• Signs of right-sided heart failure (eg, jugular • i Pulmonary arterial pressure on right-sided
hypertension
venous distension, edema) heart catheterization

• Honeycomb pattern on chest CT scan

Pulmonary • Exertional dyspnea
• Pulmonary function testing showing restrictive
fibrosis • Progressive
pattern

oFunctional asplenia  Howell jolly bodies on peripheral blood smear (nuclear

remnants).
 Vaccinations.
 Daily prophylactic penicillin till the age of 5.
• Osteonecrosis (avascular necrosis) is the most common complication of sickle cell
anemia. (up to 50% develop it)
o Humeral and femoral heads most common sites.

pg. 168
 o Treatment is pain management and weight bearing limitation. Surgical
reconstruction if conservative management isn’t successful.

Differential diagnosis of bone pain in sickle cell di,sease

Cause Vaso~cclusive crisis Osteomyelitis Avascu lar necrosiis

• AcUile, severe pain • Acute or subacute pain

• Pain ~1 site {eg, • Focal pain at 1 site {eg,
• Chronic, worsening pain
daotylitis) (eg, femoral head)
Clin ical long bone)
features • +/- low-grade fever • Prol!onged fever
• Absence of fever
• Erythema & warmth
• Erythema & warmth
• Absence of warml!h or
• May be preceded by • !Positive blood culture
erytlhema
trigger (eg , dehydration)

Avascu lar necrosis

• Steroid use
• Alcohol abuse
• Systemic lupus erythematosus
• Antiip hospholipid syndrome
Etiology
• Hemoglobinopathies (eg, sickle ce ll)
• lnfecti:ons (eg1, osteomyelitis, HIV)

• Renal transplantation

• Decompression sickness
• Groin pain on weight bearing
Clin ical manifestations • Pain on hip abduction & interna l! rotation
• No erythema, swelling, or point tenderness

Laboratory findings • Normal white blood cell count

• Normal ESR & CRP

Radiologic imaging
• Crescent sign seen in advanced stage
• MRI is most sensiti~e modality

• At a high risk of sepsis caused by Streptococcus pneumonia(MCC), Haemophilus

influenzae, and Neisseria meningitidis.
o C/P: fever, chills, hypotension, and bandemia.
o Predisposed to sepsis due to functional asplenia.
 Risk of sepsis lasts for more than 30 years.
o Prevention by taking vaccines and prophylactic penicillin daily till the age of 5.
o Treatment of sepsis: ceftriaxone.
• Splenic sequestration: acute worsening of the anemia. Accumulation of RBCs in
spleen leading to splenomegaly  fatigue and hypotension.
o Life-threatening complication of sickle cell disease.

pg. 169
 Acute splenic sequestration

• Complication of sickle cell disease seen in early childhood

Pathophysiology
• Vasoocclusion within spleen, causing trapping of red blood cells & platelets

• Abdominal pain
• Palpable splenomegaly
Clinical features
• Signs of anemia (tachycardia, pallor, fatigue)
• Hypotensive shock

• Acute drop in hemoglobin

Laboratory
• Reticulocytosis
findings
• Thrombocytopenia

• Isotonic fluid resuscitation

Treatment • Red blood cell transfusion
• ± Splenectomy

• Aplastic crisis by Parvovirus B19:

o Drop in hemoglobin, low retics count, and without splenomegaly.

Acute severe anemia in sickle cell disease

Cause Reticulocytes Key features

Aplastic • Transient arrest of erythropoiesis

L
crisis • Secondary to infection (eg , parvovirus B19)

Splenic
• Splenic vasoocclusion -. rapidly en larg ing spleen
sequestration i • Occurs in children prior to autosplenectomy
crisis

• Hydroxyurea increases HbF. Indicated in patients with frequent, acute, painful

episodes; history of acute chest syndrome and severe symptomatic anemia.
o Complication: pancytopenia temporarily.
o Increases HbF levels: between 10 to 30%.
• Don’t give blood transfusion because blood is already viscous. Only exchange
transfusion can be done.
• HbSC:
o Doesn’t have manifestations.
• HbSB+:
o Mild form of disease.
• HbSB0:
o Most severe form of disease.
• BMT transplant:
o Recommended but no indication yet.
Management of sick.le cell anemia

• Vaccination

Maintenance
• Penicillin (until age 5)
• Folic acid supplementation
• Hydroxyurea (for patients with recurrent vaso-occllusive crises)

• Hydration
Acute pain crises • Analgesia
• +/- Transfusion

pg. 170
 Electrophoresis patterns in sickle ce ll syndromes

HbA HbA2 HbF HbS HbC

Normal ++++ + + None None

Sicikle cell trait +++ + + +++ None

Sickle cell anemia (SCA) None + + ++++ None

SCA on hydroxyurea None + ++ +++ None

Hemoglobin SC disease None + + +++ +++

• Sickle cell trait only experience painless hematuria due to renal papillary necrosis.
Isothenuria is also common  nocturia and polyuria.
o Splenic infarcts at high altitudes.
o UTI in pregnant ladies.
o Can also develop renal tubular acidosis (impaired H+ secretion).

Sickle eieU trait

,. Usually asymptomatic
CIII n ca features
. No change in overall life expectancy
,. Nornna1hemog obln. retioulocyl:e count. RBC Ind ces & morphalogy
Laboratory findings ,. Hemoglobin electrophoresis: Hb A > Hb s
,. Hematuriatpaplllary necrosIs
Complications . Spl~nic infarction {especial ly at higher altitudes), various thromboembolism, ptiapism
• Exertional rhabdomyolysis

G6PD deficiency:

• Impaired production of NADPH  impaired regeneration of reduced glutathione.

• RBCs vulnerable to oxidative stress.
o Fava beans.
o Infections.
o Primaquine.
o Antibiotics such as TMP-SMX and dapsone.
• C/P:
o Sudden onset of back pain or abdominal pain.
o Jaundice.
o Dark urine.
o Splenomegaly.
• Diagnosis:
o Blood smear:
 Heinz bodies.
 Bite cells.
o Labs:
 Normocytic anemia.
 Increased retics.
 Increased unconjugated bilirubin.
 Increased LDH.
 Decreased haptoglobin.

pg. 171
  Hemoglobinuria.
o G6PD enzyme analysis quantitative a couple of weeks after the episode.
• Treatment:
o Avoid triggers.
• Resistant to malaria.

Medications that often trigger hemolysis in G6PD deficiency

• Diaminodipheny1 sulfone (dapsone)
• lsobutyl nitrite
Avoid • Nitrofurantoin
• Primaquine
• Rasburicase

• Acetaminophen
• Acety1salicylic acid (aspirin)
• Chloramphen icol
• Chloroquine
• Colchicine
• Diphenhydramine (Benadryl)
Use with caution • Glyburide
• lsoniazid
• L-dopa
• Quinine
• Sulfamethoxazole
• Trimethoprim
• Vitamin K

Hereditary spherocytosis:

• Ankyrin gene mutated causing decreased ankyrin in the RBC membrane  spectrin
deficiency.
• Pathological jaundice in neonates: starts early and persistent.
o Refractory to standard treatment (phototherapy).
• Increased RDW.

pg. 172
 Hereditary spherocytosis
r
I
I
'

• Autosoma l dominant inheritance (- 75%)

Epidemiology
• Northern European descent

Clinical
• Hemolytic anemia
• Jaundice
presentation
• Splenomegaly

• 1' Mean corpuscular hemoglobin concentration

Laboratory
• Sphe1
rocytes on peripheral smear

findings • Negative Coombs test

• 1' Osmotic ~ragility on acidified glycerol lysis test
• Abnormal eosin-5-maleimide binding test

• Folic acid supplementation

Treatment • Blood! transfus ions
• Splenectomy
I

Complications
• Pigment gallstones
• Aplastic crises from parvovirus B19 infection
~ I IJl"' • H - ■ • --I.I I I ,-

• After splenectomy: twice daily prophylactic penicillin for 3-5 years.

Paroxysmal nocturnal hemoglobinuria:

Clinical features of paroxysmal nocturnal hemoglobinuria

• Hemolysis ➔ fatigue
Clinical
• Cytopen ias (impaired hematopoiesis)
manifestations
• Venous thrombosis (intraabdominal, cerebral veins)

• Complete blood count (hypoplastic/aplastic

anemia, tlhrombocytopenia , leukopenia)
• Ellevated lactate delhydrogenase & low lhaptoglobin
Worikup (lhemolysis)
• Indirect hyperbilirubinemia
• Urinalysis (hemoglobinuria)
• Flow cytometry (absence of CD55 & CD59)

• Iron & folate supplementation

Treatment • Eculizumab (monoclonal antibody that inhibits
comp lement activation)
@USMLEWorld, ll_C

MICROCYTIC ANEMIA

pg. 173
Iron deficiency anemia:

• In children due to excessive consumption of cow’s milk (>24 ounces)

o Low iron content of milk.
o Poor bioavailability of iron from milk.
o Increased intestinal blood loss from milk protein induced colitis.
• Low hemoglobin, and hematocrit. High RDW.
• Blood transfusions when
o Hemoglobin is less than 5 mg/dl.
o More than 5 mg/dl but with cardiopulmonary failure.
• RDW more than 20%.
• Mentzer index >13%.
• C/P:
o Pallor.
o Irritability.
o Tachycardia.
o Lethargy.
o Pica.
o Systolic murmurs.

Iron deficiency an1emia in1young c 1h ildren,

• Prematurity
• Lead exposure
• Age <1
0 Delayed introduction of solids
Risk factors (ie, exclusive breastfeeding after 6 months}
0 Cow's, soy, or goat's milk
• Age >1
0 >24 oz/day cow's milk
0 <3 servings/day iron-ridh foods

Diagnosis • Screening hemoglobi n at age 1

• Hemoglobin <11 g/dl , l MCV, t RDW
Treatment • Empiric trial of iron supplementation
• Treatment:
o Hemoglobin should be rechecked after 4 weeks  >1g/dl improvement 
oral iron should be continued for 2-3 months.

Thalassemia:

• Absent or reduced production of 1 or more alpha or beta globin chains.

• Alpha and beta thalassemia often asymptomatic and diagnosed by lab tests.
• Mentzer index is less than 13% (MCV/RBC).
• Target cells and teardrop cells on peripheral smear.
• RDW between 12 and 14.
• Beta thalassemia:
o Excess globin chains  increased HbF.

pg. 174
 o C/P:
 Second month of life.
 Anemia, hypersplenism, cardiac decompensation.
 Expanded medullary space, increased expansion of face and skull.
 Hepatosplenomegaly.
o Diagnosis:
 Electrophoresis: increased HbF.
 Bone marrow hyperplasia.
 Severe anemia, decreased retics. Increased bilirubin. No normal cells
on smear.
o Management:
 Major: transfusions + chelation therapy.

Alpha-thalassemia

Genotype Disorder Clinical features

1 gene loss
Alpha-thalassemia minima Asymptomatic, silent carrier
(aa/a-)

2 gene loss
Alpha-tha lassemia minor Mild microcytic anemia
(aa/- -) or (a-/a-)

3 gene loss
Hemoglobin H disease Chronic hemolytic anemia
(a-/--)

4 gene loss
Hydrops fetalis, hemoglobin Barts High-output cardiac failure, anasarca, death in utero
(- -/--)

pg. 175
 Thalassemias

Disorder (genotype) Hb electrophoresis Anem ia severity

II
Silent carrier
Nor mal Asymptomatic
(a a/ a-)

Tralt
Normal Mild symptoms
(a a/ O.R a -/ a )
Alph a
t ha lassemia Hb H disease
5%-30% Hb H (adults) Chron ic hemolysis
(a-/--)

. Hb Ba rts, Hb Portland
Major (fetal hydrops) & Hb H present
Fatal in utero
( -- / -- ) Absen t Hb A, Hb F &
Hb Al

Trait 113 / ~0 ) Increased IHb A2 M ild

I

Int ermed iate

Beta Increased IHb F Moderate
( ~+/ ~+. others}
thalassem ia

Absent H b A, onl y Hb A2
Maj or (113°/ 13°) Severe
& Hb F present

©UWorld

Iron studl:es In mlcrocytlc anemia

Tranisrerrln
Cause MCV lr<1n TIIBC Fe ~~itln saturation
(lronfTIIBC)

Iron deficiency I 1 I

Th alaaaemla t l t

Anemia of
chronic dlaeaae Norm II! I l Normollf Norrn II
(inflammation,)

t,I V MNn ~O(p!!-li!! volumt; TIBC ., ~ ir(lll bir,ding ~!!~city,

IOUWolld

pg. 176
 Iron deficiency anemia & thalassemias

Iron
Parameter deficiency Alpha-thalassemia minor Beta-thalassemia minor
anemia

MCV L L l
RDW t Normal Normal

RBCs L Normal Normal

Peripheral Microcytosis,
Target cells Target cells
smear hypochromia

Serum iron L Iron & ferritin Normal/f iron & ferritin Normal/t iron & ferritin
studies t TIBC (RBC turnover) (RBC turnover)

Response to iron
t Hemog lobin No improvement No improvement
supplementation

Hemoglobin
Normal Normal t Hemoglobin A2.
electrophoresis

MCV = mean corpuscular volume; RBCs = red blood cells; RDW = red blood cell distribution width;
TIBC = total iron-binding capacity.

Hemoglobin electrophoresis patterns in sickle cell & beta-thalassemia

Condition Hemoglobin A Hemoglobin A2 Hemoglobin F Hemoglobin S

Normal 95%-98% -2.5% <1 % Absent

Beta-thalassemia minor ! i Near nonrnal Absent

Beta.-thalassemia major Absent ti ti Absent

Sickle cell trait H Near nonrnal Near nonrnal t

Sickle cell disease Absent Near nonrnal ti ii

Lead poisoning:

• Up to 5 micrograms/dl is fine.
• Risk factors:
o Low socioeconomic status.
o Older housing.
o African American race.
o Contact with leaded gas or paint.
• C/P:
o Behavioral changes.
o Cognitive dysfunction.
o GI disturbances.
o CNS dysfunction.
o Lead lines.
• Labs:
o Screening test is capillary.
o Venous sample is gold standard.
o X-ray shows dense lines.
o Smear shows microcytic hypochromic anemia, basophilic stippling, and
increased FEP.

pg. 177
 Lead poisoning in adults

Risk Occupational exposure (eg , lead paint,

factors batteries, ammunition, construction)

• Gastrointestinal (abdominal pain,

constipation, anorexia)
Clinical
• Neurologic (cogn itive deficits, periphera l
features
neuropathy)
• Hematologic (anemia)

• Anemia
Laboratory • Elevated venous lead level
findings • Elevated serum zinc protoporphyrin level
• Basophilic stippling on peripheral smear

©UWorld

Approach to childhood lead poisoning

Does the child have the following risk factors?

• Homa built before 1978 under renovation or

with pealing paint
• Pica
• Sibling with lead poisoning
• Low socioeconomic status (eg , Medicaid)
• Immigrant or international adoptee

[ No further testing I I Draw venous lead level I

I
l l
Undetectable J I Mild:
5-44 mcg/dl
I Moderate:
45-69 mcg/dl I ~70Severe:
mcg/dl

*
No medication, Meso-2,3-
*
Dimercaprol
repeat level in Dimercapto- (British Anti-
<1 month succinic Lewisite) plus
acid (DMSA) calcium disodium
edetate (EDTA)

C,USMLEWo,14 Li.C

• Dimercaprol and calcium EDTA for acute encephalopathy.

Folate deficiency anemia:

pg. 178
 Folate deficiency anem ia

• Chronic hemolysis (eg, sickle cell disease)

E.t iology • Poor dietary intalke
• Malabsorption (eg, gastric bypass)
• Medications {eg, methotrexate, phenyloin)
Clinical! features • Dyspnea, fatigue, palllor, weakness
• Macrocytic anemia
Laboratory • Poor reticulocyte response (low to normal)
findiings • Hypersegmented neutroph ils
• Low serum folate
Treatment • Folic acid supplementation

BLEEDING DISORDERS:

Bteedi ng di so:rders

Laboratory
Type Symptoms Examples
resulll!I

• Hem rtihfOSiS
1i'Activ -led
• Hemop:hilia A perti I
Cl'o,ttlng defect • D p tis ue
• Hemoptiilie B lhmmbopr stin
hematom s lim

• von Willeb d
Ill - A norrn -1
P,late et
a,ggrega Ion detect
plai I t
• B merd -Sou lier runct,on t Un •
yndrome

• Idiop II, ic
tluombocylop _nic
hrornbocytopen, a • t c1,1a pyrpu _
• Le:ukemi
()UWorld

• Mi:< ing stud[ts-for j PT) TT, or TT~dd ml plasma and re:l)eat

-COnecfon =clotting factor defioiencv
-No or partial= inhibi or (heparin!
-More prolonged with clinical bleeding= antibod¥ present
• Clo ing fact.or as.says
• Platelet a,ggregaf onst die-s-ristocetin fo gualitar e d~sfn

pg. 179
Von Willebrand disease:

• C/P:
o Superficial mucosal bleeding.
o Menorrhagia in women.
• Labs:
o Bleeding time increased.
o Prolonged or normal PTT.
• Treatment:
o Desmopressin.
o Recombinant vWF concentrate.

Variants of von Willebrand disease

Type Inheritance/etiology Pathophysiology

Congenital Type 1(80%) • Autosoma l dominant • Quantitative deficiency of yWF

and factor VIII

Type2 • Autosoma l dominant G • Qua li tative defect in vWF

(15-20%)

Type3 • Autosoma l recess ive • Complete absence of mF and

(~1%) factor V III

Acquired • Typically associated with • Unknown

malignancies
" Multiple m eloma and
monoclonal gammopathy

o Lymphoma

• Autoimmune diseases • Autoantibodies

Vitamin K deficient bleeding:

Infantile vitamin K-defiiciient bleeding

• Low vitamin IK stores (poor placental transfer, steri le gut, low content in
Pathophysiology breast milk)
• Inefficient vitam in K use by immature liver

• Cl!assica llly presents on day 2-7 of lrre•

Clinical features
Laboratory findings
• Easy bruising
• Umbilical, mucosal & gastrointestinal bleeding
• lntracranial hemorrhage
• PT
• PTT (ifsevere)
• Normal pllatelet count

Prevention • Intramuscular vitamin Kat biirth

"Can occur up to age 6 months.

pg. 180
Hemophilia A and B:

Hemophilia A & B

l'n heritance • X-llinked recessive

• Delayed/prolonged bleeding after mil!d trauma

0 Hemarthrosis, intramuscular hematomas
Clinical
0 Gastrointe,st1nal or genitourinary tract bleeding
features
0 lntracranial hemorrhage
• Complications: hemophilic arthropathy
• t Activated PTT
Laboratory • Normall platelet count & PT
fi ndings • Absent or factor VIII (hemophilia A} or factor IX
(hemophilia B) activity

Treatment • Factor replacement

• Desmopressin for mild hemophilia A
● Recurrent hemarthroses can result in long term complications such as hemophilic
arthropathy.
o Hemosiderin deposition within the joint triggers synovial inflammation, which
leads to fibrosis and destruction of cartilage and bone.
o MRI allows for early detection and characterization of the degree of joint
damage.
o Prophylaxis: factor concentrate.

● Acquired inhibitor development:

o The immune system recognizes the factor 8 infusions  forms antibodies.

o C/P:

▪ Increased bleeding frequency.

▪ Hemorrhage refractory to treatment.

o Screening is usually performed for those who receive factor 8 infusions.

o Treatment:

▪ Acute bleed  FFP or PCC.

pg. 181
Hemolytic uremic syndrome:

Hemolytic uremic syndrome

Pathogenesis • l nitiall insu lt trom Shiga toxin (Escherichia coli serotype 0157:H7)
• Vascular damage & microthrombi fonmation

• Preceding bloody diarrhea

Clin ical features • Fatigue, pallor
• Bruising, petechiae

• Olliguria, edema
• Hemolytic anemia {schistocyt.es, t bi lirubin}
Laborato1ry findirngs • Thromlbocytopeniia
• Acute kidney injury (t BUN, t creauinine)
• Fluid & electrol,yte management
Treatment • Blood transfusions
• Dialysis
• Management:
o Hemoglobin <6  transfusion.

Immune thrombocytopenia:

• Spleen is the site of formation of antiplatelet antibodies.

o IgG against GPIIb/IIIa.
• Splenectomy is the last resort for catastrophic bleeding or chronic ITP resistant to
treatment.
• Treatment:
o >20,000  observe.
o <20,000  depends whether symptomatic or not.
o <10,000  give IVIG.
o Splenectomy for chronic ITP.

pg. 182
 Immune thrombocytopenta

• Anl oeden! viral in~ ction

Cllnlca.l • Asymptomatic pelechiee & ecchymosis most common
presenla.t lon • Mucocuta11eous bleedrng (eg, epistmds, hematuria ,
geslrointestinel b'leed ing)

t ·t:,oratory • lsol t d thrombocytop nr <100,0001,µL

finding • P ripheral smear m wm,karyocytes ndl no oth

• Skin manifa telions only: Ob rv

• IBI din
Cnlldr n o IVI
OR

Treatment
• Pl ts ?30,000/µL wilhoui bl rve
• IPI ts <30,0001µ OR bl edlng:
Adlilllts 0
OR
o Glucocorticoids
ilUWo!:ld

Immune thrombocytopenia
• Platelet auloantibodies
Etiology
• Preceding viral infection

• Petechiae, ecchymosis
Clin ical findings
• Mucosal bleeding (eg, epistaxi s, hematuria)

• Isolated thrombocytopenia <100,000/mm 3

laboratory findings
• Few platelets (size norm al to large) on peripheral smear

• Children
o Observe if cutaneous symptoms only
o Glucocorticoids, IVIG , or anti -D if bleeding
Treatment • Adu lts
o Observation if cutaneous symptoms AND platelets ~30,000/mm 3
o Glucocorticoids, IVIG , or anti-D if bleeding or platelets <30,000/mm 3

Disseminated intravascular coagulopathy:

• Consumption of all clotting factors.

• Complication of underlying disease.
o Sepsis.
o Trauma.
• C/P:
o Thrombosis.
o Bleeding.
o Purpuric fulminans; blue-black hemorrhagic purpuric lesions.
• Labs:
o Elevated PT and PTT.
o Elevated BT.
o Thrombocytopenia.
o Anemia.
o Helmet cells.
o Increased fibrin degradation products.

pg. 183
 o Increased D-dimer.
o Decreased fibrinogen.

WBCS:

Acute lymphoblastic leukemia:

• MCC leukemia from ages 2-10. Males> females.

• C/P:
o Fatigue and pallor.
o Bruising and petechiae.
o Recurrent infections.
o Lymphadenopathy.
o Splenomegaly.
o Bone pain.
 Legg Calve Perthes.
• Diagnosis:
o Lymphoblasts on peripheral blood smear.
o More than 25% lymphoblasts in bone marrow is diagnostic.
 PAS +ve  lymphoblasts.
 TdT +ve; expressed only by pre B and pre T lymphoblasts.
 B-cell lymphoblasts express CD10, CD19, and CD20.
 Perioxidase +ve and/or auer rods  myeloblasts.
• Prognostic factors:
o Poor prognosis if WBC >100,000 or chromosomal abnormalities such as
t(9:22) or age <1 year or >10 years.
o Good prognosis with translocation t(12;21).
• Treatment:
o Remission induction by multidrug chemotherapy.
o CNS therapy for the second phase.
o If Philadelphia chromosome positive  imatinib.
• Complications:
o Relapse.
o Pneumocytis pneumonia.
o Tumor lysis syndrome.

pg. 184
 Acute lymphoblastic leukemia

• Most common childhood cancer

Epidemiiology • Peak age: 2-5 years
• Male > female
• !Nonspecific systemi:c symptoms
• IBone pain
Clini cal • Lymphadenopalhy

features • Hepatospl enomegaly

1

• Pallor (from anem ia)

• Petechiae (from
throm bocyl:openia}

Diagnosis • Bone marrow biopsy with >25%

lymphoblasts

Treatment • 1M ultidrug chemotherapy

Hodgkin lymphoma:

• EBV.
• Reed-Sternberg cells.
• C/P:
o Painless firm supraclavicular nodes.
o Anterior mediastinal mass.
• Diagnosis:
o Excisional biopsy.
o Staging.
• Treatment:
o Determined by staging.
o Chemotherapy-radiation.

Non-Hodgkin lymphoma:

• Burkitt lymphoma:
o Neoplasm of mature B cells.
o T(8:14).
o Associated with EBV infection.
o C/P:
 Mass at the mandible or abdominal viscera.
o High mitotic index is typical.
o Histology: starry sky appearance.
o Aggressive but responds to high dose chemotherapy.

Langerhans cell histiocytosis:

pg. 185
 Langerhans cell histiocytosis
I I
• Lytic bone lesions (eg, skull, jaw, femur)
• Skin lesions (purplish papules, eczematous rash)
Clinical findings • Lymphadenopathy, hepatosplenomegaly
• Pulmonary cysts/nodules
• Central diabetes insipidus

Diagnosis • Langerhans cells on bone/skin biopsy

I I
• Chemotherapy {prednisone ± vinblastine)
Treatment • Desmopressin for diabetes insipid us

• Most common form  eosinophilic granuloma (least severe form).

• Punched out lytic lesions.

Tumor lysis syndrome:

Tumor lysis syndrome

Ri sk . Initiation of cytotoxic chemotherapy

. Severe electrolyte abnormalities

o j Phosphorus, potassium, uric acid
Manifestations o t Calciu m
• Ac ute kidney injury (due to uric acidfca lciu m phosphorus)
. Cardiac arrhythmias

Treatment
. Continuous telemetry
• Aggress ive electrolyte mon il oring/treatment

Prophylaxis
. IV fluids
• Allopurinol or rasbu ricase

Methemoglobinemia:

Cliniical presentation of methemoglobinemia

History Exposure to oxidizing substa nces (eg, dapsone, nitrites, local~opical anesthetic)

• Cyanosis
Clinl'cal examina~lon • Pulse oximetry saturation -85%
• Dark choco'la t.e-colored blood

• Saturation gap (>5% difference between oxygen saturation on pulse oximetry & ABG)
Laborato ry find ings
• Normal Pa02

• Local/topical anesthetics such as benzocaine/lidocaine.

• Ferrous converted into ferric. Ferric has a decreased affinity to oxygen.
• Decreased oxygen delivery  altered mental status, seizures, and death.
• Co-oximeter for diagnosis.
• Treatment:
o Methylene blue.

pg. 186
Sulfhemoglobinemia:

• Occurs after exposure to an oxidative sulfur-containing medication. (e.g. sumatriptan,

sulfasalazine).
• C/P: blue green discoloration of blood and mucocutaneous surfaces.

pg. 187
 MUSCULOSKELETAL

HIP:

Developmental dysplasia of the hip:

Screening for developmental dysplasia of the 'hips

Age 0-12 months:

Physical exa rnination at
eilch w II-child visit

Posi tive Barlow I A:symm try with neg 1i11e

I
or Ortolanl 8 rlow nd Ortolanl

Age Ag
orthop dies 2w
---....----
I Hip ultrasound I IHip :<•ray I
• Risk factors:
o Breech presentation.
o Female.
o White.
o Family history.
• C/P hip laxity:
o Soft click.
o Leg-length discrepancy.
o Asymmetric inguinal skin folds.
• Diagnosis by Barlow and Ortolani maneuvers.
o Palpable clunk with either maneuver is an alarming sign of hip dislocation.
• Early diagnosis is critical as treatment initiation before 6 months portends a favorable
prognosis.
• Hip laxity present at birth resolves at 2 weeks thus don’t do imaging before 2 weeks.
o Imaging only after 2 weeks.
o Do a hip ultrasound if <4 months.
o After 4 months  frog lateral x-ray.
• Complications:
o Trendelenburg gait.
o Scoliosis.
o Avascular necrosis.
o Arthritis.

pg. 188
 Barlow & Ortolani maneuvers

Ortolani Maneuver:
Abduction with anterior lifting of the hip

Galeazzi test

Barlow Maneuver:
Posterior femoral
Adduction with posterior pressure on the hip
displacement

Developmental dysplasla of the hip -

asymmetric inguinal folds

Pavlik harness

(A} Normal inguinal fclds do not extend beyond the

anal apenure

(Bl The inguinal fold on the left extends beyond the anal aperture,
suggesting possible developmental dysplasia of the left hip

(C) The inguinal folds on both sides eJCtend beyond the anal
ape,1u,e, suggesting bila1e,a1 devekiprnental dysplasia of the hip
JWoo1d

• Treatment: Pavlik harness up to 6 months. After that do reduction under anesthesia.

o Red flags  refer to orthopedic surgery.

pg. 189
Slipped capital femoral epiphysis:

• Pathophysiology: posterior displacement of the femoral head from the femoral neck
due to disruption of the proximal femoral growth plate.
o In children due to an open growth plate.
• Commonly seen in obese adolescent boys.
• C/P:
o Hip and knee pain.
 Usually knee pain is referred pain.
o Limping.
o Physical examination: loss of abduction and internal rotation of the hip as well
as external rotation of the thigh while the hip is being flexed.
• Bilateral disease in the case of endocrinopathies such as hypothyroidism or GH
deficiency.
• Diagnosis: high degree of clinical suspicion.
o Diagnostic imaging of choice: frog-leg lateral view x-ray. Also anteroposterior
view.
 Widening of joint space, femoral head is placed posteriorly and
inferiorly.
• Gold standard treatment is surgical screw fixation to avoid avascular necrosis.

Slipped capital femoral epiphysis

Risk factors
• Obesity Slipped capftal femora l eplphysls

• Adolesoence

• Dull hip pain

Clinical • Referred knee pain
prese ntation • Altered gait
• Limited internal rotation of hip

Diagnosis • Posteriorily displaced femora l head on x-ray

Treatment
• Non-weight bearing
• Surgical pinning

Complications
• Avascular necrosis
• Osteoarthritis

Legg-Calve-Perthes disease:

• C/P:
o Insidious onset of hip or knee pain.
o Antalgic gait.
o Can be mistaken for transient synovitis, which resolves in 4 weeks.
o Internal rotation and abduction might be limited.
o Proximal thigh atrophy and Trendelenburg sign.
• Diagnosis:
o X-rays.
 Initially normal; MRI is more sensitive.
 Subacute or chronic cases  flattened or fragmented femoral head.
Subchondral lucency (crescent sign).
• Treatment:

pg. 190
 o Supportive management.
o Fails  splinting or surgery.

Legg-Calve-Perthes disease

Pathogenesis • Idiopathic avascular necrosis of the fem ur

• Boys age 3-12

Clinical • Insidious hip pa in, limp
features • Restricted hip abduction, internal rotatio n
• Positive Trendelenburgi si.gn

• X-ray
0 Early stag:es: May be normal
Diagnosis 0 Later stagies: Femoral head flatten ing,
fragmentation, sclerosis
• MRI: Avascular/necrotic femora l head

Treatment • Non-weight bearing

• Splinting, possible surgical repair

Transient synovitis:

• MCC hip pain in children, typically boys age 3-10 years.

• On examination: flexed, slightly abducted, and externally rotated.

Transient synovitis
• Age 3-8
• Preceding viral iillness
Clinical features • Afebri le
• Hip pain, limp
• Able to bear weigiht

• Normal to mild ly elevated WBC count, ESR, CRP

Diagnosis
• Small effusions on ultrasound

• Conservative
Management
• Nonsteroidal anti-inflammatory medications

• Full recovery within 1-4 weeks

Prognosis
• Recurrence uncommon

CRP " C-mactir-.te protein; ESR " erythrocyte sedimentation rate; WBC " white blood cell.

pg. 191
 Transient synovitis vs septic arthritis
Transient synovitis Septic arthritis

• Well-appea ring • Ill-appearing

Clinical
• Afebrile or low-grade fever • Febrile
presentation
• Able to bear weight • Non- weight-bearing

• Normal or mildly elevated WBCs, ESR,

• Moderately elevated W BCs, ESR, CRP
CRP
• ± Positive blood cu lture
Diagnosis • Unilateral/bilateral joint effu sion on
• Unilateral joint effu sion on ultrasound
ultrasound
• Synovial fluid WBCs >50,000/mm 3
• Diagnosis of exclusion

Treatment • Conservative • Joint drainage & antibiotics

CRP = C-reactive protein; ESR = erythrocyte sedimentation rate; WB Cs = white blood cetls.

KNEE:

Osgood-schlatters disease:

• Common cause of knee pain.

• Adolescent male athletes.
• Worsened by sports.
• On examination: edema and tenderness over tibial tubercle.
o A firm mass can also be felt due to heterotopic bone formation.
o Pain reproduced by extending the knee against resistance.
• X-ray shows anterior soft tissue swelling.
o Lifting of tubercle from the shaft.
o Irregularity or fragmentation of the tubercle.
• Treatment:
o Activity restriction.
o Stretching exercise.
o NSAIDs.

Genu varum/valgus:

• Varum is normal up to age of 3.

• Valgus is normal between 4 and 8.
• Characteristic of normal genu varum:
o Symmetric bowing.
o Normal stature.
o No leg length discrepancy.
o No lateral thrust when walking.
• Reassurance and follow up.
o If it persists past 3 (blount disease)  surgery can be done.

pg. 192
 Lower extremity alignment
>7 years
Straight legs Lateral thrust

4 years
Genu valgum

2 years
Straight legs

6 months
Genu varum

Knee joint
protrudes
taiterally

Wh en st.:i ndl ng When walking

Blount disease:

• Abnormality in the medial aspect of the proximal tibial epiphyses.

• Treatment:
o Bracing up to the age of 3.
o After the age of 3: surgery.

SPINE:

Atlantoaxial instability:

• Excessive laxity of the posterior transverse ligament -> increased laxity between C1
and C2.
• Associated with down syndrome.
• C/P:
o Hypotonic.
o Behavioral changes.
o Torticollis.
o Urinary incontinence.
o Vertebrobasilar symptoms:
 Vertigo.
 Dizziness.
 Diplopia.
• Examination:
o UMNL.
• Diagnosed by lateral radiographs of the cervical spine. And open mouth radiographs.
• Treatment:
o Surgical fusion of C1 and C2.

Spondylolisthesis:

• Developmental disorder characterized by a forward slip of vertebrae.

• C/P:

pg. 193
 o Slowly developing back pain and neurological dysfunction.
o Step-off palpable at the lumbosacral area.

Scoliosis:

• Idiopathic, congenital, or neuromuscular causes.

• Adolescents >11 years old.
• C/P:
o Rib hump.
o Asymmetric scapulae.
o Unilateral thoracic/lumbar prominence on forward bend test.
• Cobb angle >10 degrees.
• Risk factor of curve progression:
o Female sex.
o Age <12.
o Early pubertal status.
o Skeletal immaturity.
o Severe curvature (cobb angle >25).
• Adams test: >20 curvature.
• Diagnosis: AP and lateral x-rays to measure cobb angle.
• Treatment:
o 10 to 30 degrees: monitored clinically every 6 months.
o >30 degrees: thoracolumbar spinal brace.
o >40 to 50 degrees: surgery.

Spinal deformity
Normal Scoliosis

Scol lometry

Lateral $,shaped curvatu re

of the thoracic & lumbar spine
() UWor1d

pg. 194
 Measuring Cobb angle

Brace for scoliosis

CANCERS:

Osteosarcoma:

• Most common primary brain tumor affecting children and young adults.
o Peak incidence of primary is in teenagers.
o Peak incidence of secondary in the elderly (>65 years).
• Between 13 and 16 years.
• Associated with familial retinoblastoma and Li-Fraumeni syndrome.
• Occurs at the metaphyses.
• C/P:
o Tender soft tissue mass.
o Swelling and pain worse at night and with exercise.
• X-ray: sunburst and codman triangle.
• ALP and LDH elevated.
• Increased ESR.
• Treatment:
o Excise and chemotherapy.
Osteosarcoma

pg. 195
Ewing’s sarcoma:

IEwing sarcoma

• Second most common pediatric bony malignancy (after osteosarcoma)

Epidemiology
• White, adolescent boys

• Chronic, localized pain & swelling1

Cll i ni cal features • Long-bone diaphyses & axia.11skeleton (eg, pelvis)

• ± Systemic fiinding1s (eg, fever, leukocytosis)
• Early metastasis

• Central i:ytic lesion

• "Onion skiin ning" (lamelllated periosteal reaction)
X-iray findings
• "Moth-eaten"' appearance
• Periosteal elevation (Cadman triangl!e)

• T(11;22) EWS-FL-I.
• Highly malignant tumor.
• Lower extremity > upper extremity.
• Most common sites are the metaphysis and diaphysis of the femur.
• Aggressive tumor that metastasizes to the lungs and lymph nodes.
• Osteolytic.
• White males in the first or second decade of life.
• C/P:
o Pain and swelling for weeks and months.
o Erythema.
o Warmth.
o Can be mistaken for osteomyelitis.
o Fever.
o Leukocytosis.
o Anemia.
o Increased ESR.
• Radiograph:
o Lamellated appearance or “onion skin” periosteal reaction.
 Lytic, central and endosteal scalloping.
o Moth-eating or mottled appearance and extension into soft tissue.
• Treatment:
o Surgery.
o Radiation.
o Chemotherapy.

pg. 196
Osteoid osteoma:

• Osteosclerotic.
• In the diaphysis of the proximal femur.
• Treatment: NSAIDs for symptomatic relief. Serial exams and x-rays to monitor the
lesion. Surgical resection for patients with refractory symptoms.

Osteoid osteoma
• Benign, bone-form ing tumor
Epidemiology
• Most common in adolescent boys

• Proximal femur most common site

• Pain
o Worse at night
Clinical features
o Relieved by NSAIDs
o Unrelated to activity
• No systemic symptoms

X-ray findings • Small, round lucency

• NSAIDs
Treatment
• Monitor for spontaneous resolution

NSAIDs = nonsteroidal anti-inflammatory drugs .

Bone tumor locations

Round cell lesions

Ewing tumor - - - - ----:
Malignant lymphoma
Myeloma - - - - - -~
Diaphysis

Nonossifying fibroma

J Metaphysls

Giant cell tumor

Epiphysis

Chand roblastoma

t) USM~W:

ELBOW:

Radial head sublaxation:

pg. 197
 Radial head subluxation (nursemaid' s elbow)

• Ax ial traction on forearm with elbow extended (child pulled,

Mechanism
lifted, or swung by arm)

Physical • Arm held extended & pronated

findings • No swelling, deformity, or focal tenderness

• Hyperpronation of forearm
Treatment OR
• Supinal ion of forearm & flex ion of elbow

Supracondylar fracture of the humerus:

• Most common complication: brachial artery and median nerve damage.

Supracondylar fracture of the humerus

Mechanism Fall on an outstretched hand most common

• Brachia! artery injury

• Median nerve injury
Complications • Cubitus varus deformity
• Com partment syndromeNolkmann
ischemic contracture

Compartment syndrome:

• A complication of fracture.

Clinical features of compartment syndrome

• Pain out of proportion to injury

Common
• Pain l on passive stretch
• Rapidly increasing & tense swelling
• Paresthesia (early)

• I sensation
• Motor weakness (within hours)
Uncommon
• Paralysis (late)
• I distal pulses (uncommon)

• Initial treatment:
o Removal of bandages.
o Measurement of compartment pressures.
o Emergent orthopedic evaluation of possible fasciotomy.

OTHERS:

pg. 198
Constitutional growth delay:

• MCC short stature and pubertal delay.

• C/P:
o Normal birth weight and height.
o Between 6 months and 3 years of age  growth velocity slows down.
o Around 3 years of age, the child regains a normal growth velocity and follows
the growth curve at the 5th to 10th percentile.
o Puberty and adolescent growth spurt are delayed.
o Bone age radiographs show a bone age delayed compared to
chronological age.
• Reassurance.

Constitutional delay of growth and p ubeirty

• Fami ly history of "late bloomers"

Clli ni cal features • !Delayed puberty
• Short starure; normal growth velocity
• !Delayed bona age

!M anagement • Reassurance; watchfu l waiiting

• ± Hormone therapy

Prognosiis • Puberty onset correlates with family members

• Normal expected adult height

Intraosseous cannulation:

• Attempted when IV cannulation isn’t possible.

• Most common site is the proximal tibia.
o Wide and flat surface.
o At distance from sternum in case CPR is performed simultaneously.
• Benefits:
o Requires less skill and practice.
o Safer and faster.
o Cannula is large enough to deliver fluids and medicines quickly and to obtain
blood samples.
• Contraindications:
o Infection overlying the access site; cellulitis.
o Fracture or previous attempts in the chosen extremity.
o Bone fragility; osteogenesis imperfecta.

Torticollis:

• Acquired torticollis:
o Upper respiratory infections.
o Minor trauma.
o Cervical lymphadenitis.
o Retropharyngeal abscess.
o Atlantoaxial sublaxation.

pg. 199
 • Cervical spine radiographs required to ensure that there is no cervical spine fracture
or dislocation.
• Treatment:
o Range of motion exercises and stretching program.
o Increased tummy time.
• Complications:
o Positional plagiocephaly: flattening of the head with ipsilateral anterior
displacement of the ear and forehead.

Growing pains:

• Between age of 2 to 12.

• Etiology is unknown. Unrelated to growth.
• Clinical diagnosis.

Growing pains

• Occurs primarily at niglit & resolves by morning

Clinical features • Affects biilateral lower extremit ies (eg, thig hs , calves)
• Nlormal physica l examination & activity
Treatment • Parental education & reass urance
• Massage, stretch ing exercises, heat & analges ics

Juvenile idiopathic arthritis:

• Most common type is oligoarticular-onset juvenile arthritis.

o Other types:
 Seronegative polyarthritis.
 Seropositive polyarthritis.
 Systemic JIA: Still’s disease.
• Girls between age of 2-4 are most affected.
• C/P:
o Morning limp.
o Chronic anterior uveitis: ocular pain, redness and photosensitivity.
 Assessed with slit-lamp examination.
 Incidence increases the more the ANA.
o Rash.
 Worsens during fever.
o Lymphadenopathy.
o Hepatosplenomegaly.
o Anemia of chronic disease.
o Thrombocytosis.
o Non-migratory arthritis.
o Fever:
 Once a day for more than 2 weeks  quotidian fever.
• Diagnosis:
o RF: present only in seropositive.
o Elevated ESR.
o Elevated CRP, ferritin, and leukocytosis.
o Anti-CCP indicate a poor prognosis.

pg. 200
 o Anemia, thrombocytosis, and/or leukocytosis.
o Slit lamp examination for anterior uveitis.
o Imaging of the joints.
o A prerequisite for the diagnosis of JIA is that arthritic symptoms begin before
the age of 16 and last 6 or more weeks.

Juvenile idiopathic arthritis

• Symmetric arthritis for al least 6 weeks

Clinical features o Polyarticular: .?,5 joints involved
o Olig.oartlcular: <5 Joints Involved

• Elevated inflammatory markers (erythrocyte sedimentation

rate , C-reactive protein)
Laboratory • Hyperferritinemia
find ings • Hypergammaglobulinemia
• Thrombocytosis
• Anem ia

Juvenile idiopathic arthritis

Subtype Frequency Age of onset Clinical features Sex ratio

• Arthritis in ~1 joint
for~6 weeks
• Quotidian fever
System ic 10% Age <18 for~2 weeks F=M
• Evanescent rash
• Hepatosplenomegaly
• Lymphadenopathy

• Arthritis in ~5 joints
Age 2-5
Polyarticular 40% • May be compl icated F>M
or 10-14
by uveitis

• Arthritis in <5 joints

Oligoarticular 50% Age 2-4 • May be complicated F>M
by uveitis

• Treatment:
o NSAIDs and local intra-articular steroids are first line.
o DMARDs (methotrexate) are second line.
o If response to DMARDs is poor  etanerecept, adalimumab or anakinara.

Differential diagnosis for non-traumatic joint swelling

Infectious lnflammato ry/Rheumatologic Neoplastic

Onset Ac;ute Subaoute/chronic Subacute/chron ic

Timing of pain Constant Worse in morning Wors,e in evening/nig'ht

Able to bear weight? No Yes Variable

Multiple joints? Uncommon Common Variable

WBC/platel'et oounl WBGlplalelet count, i RBC

Laboratory findings WBC/p'lalelet count
j Inflammatory markers Inflammatory markers

pg. 201
Lytic bone lesion:

• Causes:
o Infectious: brodie abscess.
o Endocrine: hyperparathyroid osteitis fibrosa cystica (occurs in >50 years of
age).
o Neoplastic: ewing sarcoma, langerhan cell histiocytosis (mild hypercalcemia),
metastases.
o Idiopathic: benign bone cyst and aneurysmal bone cyst.

Osteogenesis imperfecta:

• Type 1 collagen mutation.

o COL1A1 mutation; autosomal dominant.
• C/P:
o Recurrent multiple fractures.
o Blue sclera.
o Opalescent teeth. (dentinogenesis imperfecta)
o Hearing loss.
o Joint laxity.
o Short stature.
o Scoliosis.
o Normal intelligence.
o Mitral valve prolapse.
• Type 1 collagen assay for diagnosis.
• Treatment: IV bisphosphonates.
o No cure available!!
• Type 2 OI:

Type II osteogenesis imperfecta

• Autosomal dominant
Pathophyslology
• Type 1 collagen defect

• Multiple fractures
• Short femur
Ultrasound findings • Hypoplaslic thoracic cavity
• Fetal growth restriction
• Intrauterine demise

Prognosis • Lethal

Ehlers-Danlos syndrome:

• Type 1 (most common).

• Type 2 (classic EDS):
o Defective type V collagen.
o C/P:
 Joint hypermobility and sublaxation.
 Skin hyperextensibility and fragility.
 Skeletal abnormalities.
 Scoliosis.

pg. 202
  Aortic dilatation.

Clinical features of Ehlers-Dan los & Marfan syndromes

Classic Ehlers-Danlos Marfan

• Transparent & hyperextensible

Skin • Easy bruising, poor healing • No features other than striae
• Velvety with atrophy & scarring

• Joint hypermobility • Joint hypermobility

• Pectus excavatum • Pectus excavatum or carinatum
Musculoskeletal
• Scoliosis • Scoliosis
• High, arched palate • Tall with long extremities

• Progressive aortic root dilation

Cardiac • Mitral valve prolapse
• Mitral valve prolapse

• Abdomina l & inguinal hernias • Lens & retinal detachment

Other
• Uterine prolapse • Spontaneous pneumothorax

• COL5A 1 & COL5A2 mutation • FBN1 mutation

Genetics
• Autosoma l dominant • Autosomal dominant

Rickets:

• Types of rickets: (increased ALP)

o Calcipenic: (high PTH and low calcium and phosphate)
 Vitamin D deficiency rickets. (low vitamin D)
 Non-vitamin D deficient:
• Liver and kidney disease.
• Type 1: 1-alpha-hydroxylase deficiency. (high 25vit D and low
1,25vitD)
• Type 2: Vitamin D resistant. (high 25vitD and 1,25vitD)
o Phosphopenic: (normal PTH and normal calcium and low phosphate)
 Fanconi disease.
 X-linked hypophosphate rickets.
• Pathophysiology:
o Vitamin D or calcium deficiency.

pg. 203
 Cli nical manifestations o f rickets

Frontal
bossing

Enlarged
ep1physes

Nutritional rickets in children

• Exclusive breastfeeding
Risk factors • Inadequate sun exposure
• Increased skin pigmentation
• Maternal ~ tamin D deficiency
• Craniotabes ("ping-pong ball" skull )
• Widening1of wriists
Clinical • Delayed fontanel closure
manifestations • Fronta l bossing1
• Hypertrophy of costochondral joints ("rach itiic rosary")
• Femoral & tibial bowing once weight-beariing
• Serum ca lci um ; phosphorus ; alkali ne phosphatase;
parathyroid hormone; 25-hydroxyvitamin D;
Evaluation
1,25-dihydroxyvitamin D

• Rad iography

Management • Vitami n D & ca lcium supplementation

• Prophylaxis:
o Supplement infants with vitamin D of 400 IU daily to prevent.
• Treatment:
o 1000 to 2000 IU daily to treat.

Trendelenberg sign:

• Drooping of the contralateral pelvis to super gluteal nerve damage which innervates
gluteus medius and minimus.
• Damage can happen due to neuromuscular disease, impingement of or trauma to the
nerve, or inflammatory myopathies.

pg. 204
 Trendelenburg sign

Normal Abnormal

Patellofemoral stress syndrome:

• Overuse injury in runners.

• Anterior knee pain worsened on descending hills or steps.
o Pain localized to patella.

Clavicular fracture:

• Majority occurs in the middle third of the clavicle.

• Carry out a neurovascular exam:
o If a bruit is heard  get an angiogram due to close proximity to brachial
plexus and subclavian artery.
• Treatment:
o Middle third: conservative treatment with a simple shoulder sling for 4-6
weeks.
o Distal third: open reduction and internal fixation to prevent nonunion.

Immobilization:

• Labs: mild hypercalcemia, hyperphosphatemia and increased ALP.

Achondroplasia:

• Mutation in FGFR3 gene at 4p16.3.

• Autosomal dominant.
• C/P:
o Short stature.
o Macrocephaly.
 Small foramen magnum (hydrocephalus).
o Middle ear deformation: recurrent otitis media.
o Lordosis and kyphoscoliosis.
o Normal intelligence.
• Diagnosis:

pg. 205
 o Physical exam.
o X-ray.
o Cranial CT or MRI.
• Therapy:
o GH hormone therapy.

McCune-Albright syndrome:

• C/P:
o Polyostotic fibrous dysplasia.
o Café au lait spots.
o Peripheral precocious puberty.
 More common in females.
• Labs:
o Elevated ALP.
o Normal calcium, PTH and vitamin D.
• X-ray: ground-glass appearance of fibrous dysplasia.
• Treatment:
o Bisphosphonates.
o Surgery of pathological fractures.
o Males: antiandrogens and aromatase inhibitors.
o Females: antiestrogens or estrogen synthesis blockers.
M.;Cune-Albright Syndrom e

McCune-Albright syndrome

• Mosaic somatic mutation in the GNAS gene

encod ing the stimulatory a subun it of G protein Irregular c.are.aiu---13~
("Co11StofMaine")m~
Pathogenesis
• Constitutive activation of adenylate cyclase leads
to overp roduction of several hormones

• Cafe-au-lait spots
-·-
• Breast deVek,pment
• Aluliary&p,.iblct\air

Clinical • Endocrine abnormalities (eg , precocious puberty,

features hyperthyroidism)
• Fibrous dysplasia

Panner disease:

pg. 206
 • Osteochondrosis of the capitellum.
• Patient is actively engaged in sports that involves throwing.
• C/P:
o Chronic dull pain.
o Crepitation.
o Loss of pronation and supination.

Patellar tendonitis:

• Overuse syndrome results from repetitive jumping or kicking.

• C/P:
o Anterior knee pain after exercise.

Forearm fractures:

• Common in children.
• The distal radius and/or ulna after a fall onto an outstretched hand.
• Buckle fracture:
o Due to porous bone.
o Stable and incomplete fracture.
o Pain and tenderness over the fracture site.
o Wrist range of motion may be intact or slightly limited.
o X-ray: to confirm the diagnosis and exclude a greenstick or complete fracture.
 Cortical bulge.
o Treatment:
 Pain control.
 Prevention of reinjury; splint placement.
 Heals within weeks without complications.
• Greenstick fracture:
o Fracture may involve only one side of the bony cortex rather than extending
through the width of the bone.
o Opposite side appears to have a deformation or bend without a break in the
cortes.
o Management: prompt reduction and immobilization of the forearm.
 Repeat x-rays should be performed prior to cast removal to confirm
bony union.
o No long-term complications are expected.

Strength training in children:

pg. 207
 Strength training (resistance training) in children
• Exercise with free weights & weight machines
Definition
• Use resistance to increase ability to exert force

• t Muscle strength & joint stability

Benefits • t End urance & coordination
• t Muscle mass (if pubertal/postpubertal)
• Card iac and musculoskeletal examination
Preparticipation assessment
• Assessment of patient maturity (eg, ability to follow directions), typically age :!e8

• Proper supervision & equ ipment

Safety gu idelines
• Avoid excessive load

Contraindications • HOCM , pulmonary hypertension, uncontrolled hypertens ion

HOCM = hypertrophic obstructive cardiomyopathy.

• Children should engage in 1 or more hour of daily moderate to vigorous physical

activity  aerobic exercise.

pg. 208
 DERMATOLOGY

Sunburn:

Sunburn

10AM - PM
,., Wear protecbl/8 dlothmgi:
o Ha • pants, loog,-sleeved slum
Prevention
0 Ti Uy , u,i k, Of' d rk-oofi
d f bri
• Apply sunscreen 30 mr . es before sun exposure
• Avoid tanning bedis

• Mild-moderate sunbum:
o To cal: Cool compresses, ,caJamrne lo n, aloe vem
o O I_ N A.IDs
Treatment • Sevet:e sunburn: Hosp1lal'ization
o In v nous id I si
o Wound car

C noer:
o M ma
Com p'lications o Basal ooll careinoma
o I

C)

Sunburn

• Symptoms begin hours after exposure, resolve by day 3-7

• Mild-moderate: Erythema, tenderness
Clinical manifestations
• Severe: As above+ blistering, systemic symptoms
(eg , fever, vomiting, headache)

• Mild-moderate
o Topical : Cool compresses, calamine lotion, aloe vera
o Oral : Nonsteroidal anti-inflammatory drugs
Treatment • Severe
o Hospitalization
o Intravenous fluids & analgesia
o Wound care

• Cloud coverage does not block UV rays and that UV rays can be reflected off water,
sand, snow, and concrete.
• Reapply sunscreen every 2 hours.
• Avoid sunscreen in infants <6months.

Superficial infantile hemangioma:

• Strawberry hemangioma.
• Bright red, well demarcated plaques that blanch on pressure,

pg. 209
 • Appear in the first 1 or 2 days of birth and enlarge in the first 2 years of life.
o Regress spontaneously during childhood.
• Some lesions associated with strabismus (eyelid hemangioma) or life-threatening
(tracheal lesions).
• Beta blockers are recommended for those at risk for complications.

lnfantille hemangioma

• Appears days to weeks after birth

Natura.I history • Proliferalion (age 0-6 months): growth of bright red, soft, raised plaque
• Involution (age >6 montns) : deep red/violet lesion that regresses in size

• Clinical diagnosis
• Special considerations:
0 25 cutaneous lesions --+ liver ull lrasound
Evaluation
0 Facial/segmental-> echocard iography & MRI of the head (ie, PHACE)
0 Cervioofacial (beard distri butio:n} -> la ryngoscopy
0 Lumbosaora l ----> spinal ultrasound

• ObseNalion for most lesions

• Beta-blocker therapy (eg, pr,oprano'lol) for high-risk features:
0 Large, facial, segmental, &/or rapidly growing (ulceration/scarring)
Management
0 Petiorbilal (visual impairment)
0 Hepatic (high-output heart failure}
0 Subglottic (airway obstruction )

PllACE • posterior Fossa aooma1ies, hemangioroo, arterial anomalies, cardiac ar:iomalies, eye anomalies.

Kasabach-Merritt syndrome:

• Combination of vascular tumor (e.g. hemangioma) and consumptive

thrombocytopenia.

Cystic hygroma:

• Benign lymphangioma.
• Most commonly in the neck.
o Posterior triangle of the neck.
• Transilluminates on examination.
• Associated with turner, trisomies 21, 18 and 13.

Seborrheic dermatitis:

pg. 210
 Seborrheic dermatitis

• Peaks in infancy & adulthood

Clinica l • Erythematous plaques &/or yellow, greasy scales
features • Located on scalp, face (eg, eyebrows/eyelids,
posterior ears, nasolabial folds), umbilicus,
diaper area

• First-line: Emollients, nonmedicated shampoos

T reatment • Second-line: Topica l antifungals or low-potency
glucocorticoids

©UWorld

o Associated with Malassezia colonization.

o Spontaneous remission is common.

Seborrheic dermatitis distribution in an infant

Sca lp (cradle cap)

© UWorld

Exfoliative dermatitis (erythroderma):

• Erythema and scaling in >90% of the body.

• Bright red patches coalesce and gradually peel.
• Drug-induced, idiopathic, or secondary to an underlying dermatological or systemic
disease.

Erythema multiforme:

pg. 211
 • Acute self-limited reaction to certain infections.
• HSV is the MCC.
o Other causes:
 Infections: HSV, mycoplasma pneumonia and fungal infections.
 Drugs: barbiturates, phenytoin, NSAIDs, penicillins, and sulfonamides.
 Immunizations: after diphtheria, tetanus, influenza, hepatitis B
vaccination.
• Targetoid papule or plaque.
o Central epidermal necrosis surrounded by erythema.
• Acrofacial distribution is favored with palmar involvement.
• Mucosal lesions and systemic symptoms may be seen in EM major.

Nummular eczema:

• Appears very similar to early tinea corporis.

• Pruritic, coin-shaped, erythematous patches.
• Abnormally dry skin.
• Use of harsh soaps and exposure to environmental irritants.
• Treated with emollients and topical steroids.
• Patient’s rash is worsening with moisturizing.

Ichthyosis vulgaris:

• Autosomal dominant mutation in filaggrin.

• Stratum corneum dries out.
• C/P:
o Fine white scales on skin within first few months of life.
o Most or less exposed to air areas such as groin, axilla, cubital and popliteal
flexures are usually spared.
o Worsens during the winter.
• Severity decreases with age.
• Treatment:
o Emollients.
o Keratolytics.
o Topical retinoids.

pg. 212
Pityriasis rosea:

Pityriasis rosea

• ± Viral prodrome
II
• Annular, pink herald patch on trunk
Clinical features
• Oval lesions in "Christmas tree" pattern
• Pruritus

• Reassurance (spontaneous resolution)

Management
• Treatment of pruritus (eg, antihistamines)

Pityriasis rosea

Initial sign Secondary sign

Herald palch Christmas tree rash

Nikolsky sign positive:

• Staphylococcal scalded skin syndrome.

• Pemphigus vulgaris.
• Bullous impetigo.
• Toxic epidermal necrolysis (severe SJS).

Perianal dermatoses:

pg. 213
 1Peria11al dermatoses

Irritant contact Candida dis.per Perlanal

Diag nosis
dla1p er dermatitis dermatitis Streptococcus

Epidemiology
• Most oommon diaper • Second most common • Infants throug h school-
rash in infants diaper rash in infants aged ch ildren

• Erythematous papu les,

• Beefy-red, confluent
• Bright. sharply
plaques
Examination plaques
1
demarcated erythema of
• ln1o1olves skinfolds
• Spares skinfolds pe~ianall/perineal area
• Sa.tellite lesions

• Topical barrier
• Topical antifungal • Orall antibiotics
Treatment (eg, petrolatum, zinc
(eg, nystatin) (eg , amoxicillin)
oxide)

Candida! diaper dermatitis Irritant d iaper dermat iti s

• Irritant:
o Low-potency topical steroids can be used for refractory cases.
• Perianal streptococcus:
o Associated with perirectal fissures and blood-streaked stools.
 Constipation might occur.
o Diagnosis: perianal culture.
o Treatment: oral beta-lactam antibiotics.

Diaper dennatitis

Diagnosis Irritant contact dermatitis Candida dem,atitis

• Skin breakdown from exposure lo • Yeast supeninfection of irritant contact

Pathogenesis stool/urine dermatitis

• Most common diaper rash • Second most common diaper rash

• Erythematous papules, plaques
• Beefy-red confluent plaques
Examination
• Spares skinfolds
• Involves skinfolds

• Satellite lesions
Treatment • Topical barrier (eg , petro11atum , zinc oxide) • Topical antifungal (eg , nystatin)

Glomus tumor:

pg. 214
 • Common benign vascular tumor.
• Fourth decade; females>males.
• C/P:
o Triad:
 Intermittent pain.
 Tenderness.
 Sensitivity to touch.
• Most common site is subungal in 70% of the cases.
o Other sites are the palm and wrist.

Anogenital warts:

Anogenital warts (condyloma acuminata) in children

Etiology • Human papillomavirus infection

• Sexual abuse
Transmission • Autoiinoculation from other sites
• Prenatal or peninatal

Clinical
• Pink/flesh-colored, verrucous papu les & plaq ues
• Asymptomatic (most common)
features
• P~uritic, friable lesions

Management • Sexual abuse assessment, especially age ~4

• Treatment:
o Asymptomatic  observation, resolves by itself.
o Symptomatic  podophyllotoxin & surgical removal.

pg. 215
 NEUROLOGY

Arnold-Chiari and Dandy-Walker:

• Congenital brain malformations.

• C/P:
o Noncommunicating hydrocephalus due to obstruction of CSF flow in the
posterior fossa.
• Chiari ll malformation:
o Characterized by the presence of a myelomeningocele along with caudally
displaced cerebellar vermis and tonsils, medulla, and fourth ventricle into the
upper cervical canal.
o Caudal displacement can obstruct the flow of CSF leading to hydrocephalus
and/or syringomyelia.
• Chiari I malformation:
o Syringomyelia association.
o Most common and mildest subtype.
o C/P:
 Asymptomatic throughout childhood.
 May be incidental finding on imaging.
 Adolescence and early adulthood: occipital headache and/or neck
pain.
 Dizziness and worsening pain with physical activity or Valsalva
maneuvers due to pressure of the cerebellar tonsils on the foramen
magnum.
 Increased ICP, cranial neuropathies from brainstem compression
(dysarthria) and cerebellar dysfunction (ataxia).
 Syringomyelia.
 Scoliosis.
Chiari II malformation

Ultercll
ventricular dilabon

Arnold Chiari 1 malformation

Myelomeningocele

Syringomyelia:

• MCC is Arnold Chiari malformations and prior spinal cord injuries.

• Cervical level is most often involved.
• C/P:

pg. 216
 o Decreased strength.
o Diminished pain and temperature.
o Cape-like distribution.
o Preserved dorsal column function.

Hydrocephalus:

Symptoms Physical Exam Finding s

Poor feeding Tense and bulging fontanelle

Irritability Promin ent scalp veins
Decreased activity Widely spaced cranial sutu res
Vomiting Rapidly increasing head circumference

• Diagnosis:
o CT scan.
o Ultrasound in infants less than 6 months with a widely opened anterior
fontanelle.
• Treatment:
o Shunting into right atrium, pleura, or peritoneum.

Hydrocephalus in children
• Impaired CSF circulation
Causes • Impaired CSF absorption
• Excessive CSF production

• Macrocephaly &/or rapidly enlarging head circumference

• Prominent scalp veins
• Full anterior fo ntanelle (if open)
Clinical • Behavioral changes &/or developmental delay
manifestations • Signs of increased intracranial pressure•
o Headache, vomiting
o Papilledema
o Hypertension, bradycardia

Evaluation • Neuroimaging

*May not be present if the anterior fontanelle is open.

CSF = cerebrosplnal Huld.

Choroid plexus cysts:

• Identified on the second trimester ultrasound.

• Regress spontaneously by the third trimester.
• Asymptomatic and benign even if they persist after birth.
• A marker of fetal aneuploidy.

Riley-day syndrome:

• Familial dysautonomia.
• Autosomal recessive.
• Ashkenazi jews.
• C/P:
o Feeding problems.
o Low muscle tone.
o No tears.

pg. 217
 o Orthostatic hypotension.

Neurocutaneous disorders:

• Neurofibromatosis 1: Von Recklinghausen.

o Autosomal dominant. NF 1 gene mutation on chromosome 17.
 Neurofibromin.
• Negative regulator of RAS.
o C/P: CICLOPSS
 Café au lait spots.
 Intellectual disability.
 Cutaneous neurofibromas.
 Lisch nodules (iris hamartomas).


Optic gliomas.

• Yearly ophthalmological examination to screen for optic
gliomas, and MRI of the brain and orbits for vision changes.
 Pheochromocytomas.
 Seizures.
 Sphenoid dysplasia.
 Axillary and inguinal freckling.
o Diagnosis:
 MRI of the brain and orbit.
• Neurofibromatosis 2:
o Schwannoma:
 Cochlear nerve involvement: sensorineural hearing loss.
 Vestibular nerve involvement: imbalance.
• Most patients don’t experience vertigo since the tumor is
slowly growing and there would be central compensation.

Neurofibromatosis type II

• Autosomal dominant
• NF2 gene on chromosome 22 encoding merlin (tumor
Genetics
suppressor)
• Va ri able expressivity, usually at age 20-30

• Bilateral vestibular schwa nnomas

• lntracranial meningiomas
Cli nical
• Spina l tumors (eg, schwa nnomas, ependymomas)
manifestations
• Cataracts
• Cutaneous tumors or skin plaques

• Audiogram
Tumor
• Ophthalmolog ic evaluation
surveillance
• MRI of the brain & spine

pg. 218
 Neurofibromatosis types 1 & 2

Diagnosis NF1 (von Reckl inghausen disease) NF2 (central neurofibromatosis)

NF1 tumor suppressor gene; codes the protein NF2 tumor suppressor gene; codes the protein
Gene mutation
neurofibromin merlin

Location of mutated
Chromosome 17 Chromosome 22
gene

• Cafe-au-lait spots
Main clinical features • Multiple neurofibromas • Bilatera l acoustic neu romas
• Lisch nod ules

• Tuberous Sclerosis:
o Autosomal dominant. TSC1 (ch.9) and TSC2 (ch.16) gene mutatioms.
o C/P: HAMARTOMASS
 Hamartomas on the skin and CNS. (yellow circles)
 Angiofibromas.
• Adenoma sebaceum is a misnomer.
• Ungual fibromas (nail).
 Mitral Regurgitation.
 Ash-leaf spots.
 Rhabdomyoma (cardiac).
 Tuberous Sclerosis.
 Otosomal Dominant.
 Mental retardation.
 Angiomyolipomas (renal).
 Seizures.
 Shagreen patches (orange peel like texture).
 Subependymal giant cell astrocytoma. (red circles)
 Infantile spasms.
o Diagnosis: clinical and neuroimaging (hyperdense calcifications).
o Management:
 Serial skin and eye screens and tumor surveillance.
 EEG.

pg. 219
 Tuberous sclerosis complex

• Mutation (inherited or de novo) in TSC1 or TSC2 gene

Palhophysiology • Autosomal dominant

• Dermatologic
o Ash-leaf spots
o Angiofibromas of the malar region
o Shagreen patches
• Neurologic
Clinical features o CNS lesions (eg, subependymal tumors)
o Epilepsy (eg, infantile spasms)
o Intellectual disability
o Autism & behavioral disorders (eg, hyperactivity)
• Cardiovascular: rhabdomyomas
• Renal: ang iomyolipomas

• Tumor screening
o Regular skin & eye examinations
o Serial MRI of the brain & kidney
Surveillance
o Baseline echocardiography & serial ECG
• Baseline electroencephalography

• Sturge-Weber syndrome:
o Congenital nonhereditary mutation affecting GNAQ.
 Somatic mosaicism.
 Sporadic.
 Neural crest derivatives affected.
o C/P:
 Sporadic and port-wine stain (nevus flammeus).
• Does not cross midline.
 Tram track calcifications (opposite gyri).
 Unilateral.
 Retardation (intellectual disability).
 Glaucoma (cupped optic disc) and GNAQ gene.
 Epilepsy.
 Visual defects: cataracts and homonymous hemianopsia.
o Diagnosis:
 MRI with contrast.
o Treatment:
 Control seizures.
 Reduce intraocular pressure.
 Argon laser therapy for removing skin lesions.

pg. 220
 Sturge-Weber syndrome

Pathophysiology • Mutation in GNAQ gene

• Port-wine stain (trigeminal nerve [CN V1N2] distribution)

• Leptomeningeal capillary-venous malformation
• Seizures ± hemiparesis
Clinical features
• Intellectual disability
• Visual field defects
• Glaucoma

Diagnosis • MRI of the brain with contrast

• Laser therapy
Management • Antiepileptic drugs
• lntraocular pressure reduction

• Von Hippel-Lindau disease:

o Sporadic.
o C/P: HARP
 Hemangioblastomas in retina, brain stem, cerebellum, spine.
• Classic cystic nodular radiographic appearance.
 Angiomatosis (cavernous hemangiomas in skin, mucosa, organs).
 Renal cell carcinoma (bilateral).
 Pheochromocytoma (adrenal medulla) & paragangliomas
(sympathetic ganglia).
 Pancreatic neuroendocrine tumors.
 Endolymphatic sac tumors of the middle ear; hearing loss.
o Laser therapy for the retinal hemangioblastomas.
o Diagnosis: genetic testing.

Von Hippel-Lindau disease

• Mutation in the VHL tumor suppressor gene on chromosome 3

Etiology
• Autosomal dominant inheritance

• Cerebellar & retinal hemangioblastomas

Manifestations • Pheochromocytoma
• Renal cell carcinoma {clear cell subtype)

• Surveillance for associated malignancies

o Eye/retinal examination
o Plasma or urine metanephrines
Management
o MRI of the brain & spine
o MRI of the abdomen
• Tumor resection

Cortical dyplasia:

• Congenital abnormality of neurons that is a common seizure focus in children with

epilepsy.

Increased intracranial pressure:

pg. 221
 Increased intra.cranial pressure

• Traumatic b:rain injury; hemorrhage

Etiology
• lntracraniall mass or infection
• Hlydrocephalus
• Idiopathic intracranial hypertension

• Hleadache, vomiting, lethargy

Clinical features • Bulging fontanelle

• Papilledema
Diagnosis • Braiin imaging

Complications
• Cerebral! herniation

• lschemia
• If VP shunt is present  CT scan or MRI is required to evaluate for ventriculomegaly,
mass effect, and impending herniation.
o Shunt series radiographs are also typically performed to identify
displaced/damaged tubing.
 Confimed shunt malfunction  surgical shunt revision.

Migraine:

Migraine in children
• Equal incidence in boys & girls until puberty
Epidemiology
• i Ri sk in adolescent girls

• Pulsatilelthrobbing headache lasting hours to days

• Bilateral• or unilateral
• Associated symptoms
o Photophobia & phonophobia
Clinical features
o Nausea/vomiting
o Auto nomic symptoms• (eg, facia l sweating , tearing , nasal congestion}
• ± Preceding aura (eg, scintil lating scotoma)
• Normal neurologic examination

• Acetaminophe n, nonsteroidal anti-inflammatory drugs

• Triptans
Abortive treatment
• Antiemetics (eg, promethazine, prochlorperazine)
• Ergots (eg, dihydroergotamine)

"Not typical of adult migraines.

Pediatric stroke:

pg. 222
 Common etiologies of ped iatric stroke

• Sid<le cell disease

• Prothrombotic disorders
• Congenital cardiac disease
• Bacterial meningitis
• Vasculitis
• Focal cerebral arteriopathy
• Head/neck trauma

Hemorrhagic stroke:

Hemomnagic stro ke in ,c hildren

1

• Vase;llllar marfo:rmaUons
·O A.VM (i solat,ed o r associated with HHT)
IRi:Sk faCt•OI"$,
,;, Me\!ry:sm
• Hematologic abnorma'lities (eg, irlemoph ia , sickle, cell d is,ease)

• Headaclne, vo:milin91

,cnnical features • Sel!Zure,

• Focal neurologiG deficits

• Altered tmerital !ali:Ul!IS

Imaging • I-lead CT scan: inlrapareinchymal, inlravenlricular, or subaraclm.oiid hyperdense fluid collection

Mla:na9ement
• Si.!ppoii'tive (eg, anlie-pifeptic:$)
• RerlU1Clinn of inl racranlal pres,sui;e, (eg., elflVale head of b,ed, surglcal dscomprnsslon}

AVM =.arfarioveooua ma!Iamia: ioo; HH'J' = hereditary hemorrhagic telangioola.sia_

Rup u d .a rt, riove ou m I orm ·on

pg. 223
Hemiplegia:

Acute causes of hemiplegia in chi ld ren

Cau9e Featuru

• History of generalized limb jerking or loss of consciousness

Seizure • Presence of posticta l confusion or Todd paralysis
• Symptoms self-resolvo

• History or treume &/or bleeding disorder (eg , hemophilia)

lntracranl•I • Signs of increased lntrecranial pressu re (eg , vomiting,
hemorrhage
bredycerdie)

• History or prothrombotic disorder (eo, entilhrombln Ill

lscham lc deficl ncy) or cardi ac disease (eg, pelenl lorem n ovele)
stroke
• Focal nourologic deficit (09 , homiplogla, apha la, alaxie)

• Onset In adolescence & often positive f mily history

Hamlplegl c
migraine • History of headache & visual aura
• Symptoms sell-resolve

Seizures:

• Partial seizures:
o Simple:
 Asynchronous tonic clonic movements.
 +/- aura, no postictal state.
 EEG: spike and sharp waves or multifocal spikes.
 Treatment: phenytoin.
o Complex:
 Impaired consciousness.
 Automatism.
 EEG: spike waves or focal spikes on temporal lobe.
 Treatment: carbamazepine.

Focal seizure

• Neuronal diischarge begins in 1 cerebral hem isphere

Onset • Symptoms may be motor, sensory, or autonomic

• Underlying structural abnormal ity {eg, tumor} more liikely than with a generalized
seizure

• No impairment of awareness
0 Occurs when seizure remains l!ocalized to 1 hem iisphere
Categories • !Impairment of awareness
0 Occurs when seizure spreads to the other hemisphere
0 Often associated with automatisms (eg, chewing)

Diagnosis
• EEG
• Brain MRI (may identify a triggering, structural! lesion)

• Generalized seizures:
o Triggers:
 Hypoglycemia.
 Fever.
 Sleep deprivation.
o C/P:

pg. 224
  Preceding aura.
 Tongue biting.
 Eye rolling.
 Urinary incontinence.
 Perioral cyanosis.
 Postictal state.
 Todd paralysis: transient hemiplegia. Resolves in 36 hours.
o Treatment: valproic acid, carbamazepine, and phenobarbital.
• Absence seizure:
o Many children have a personal history of febrile seizures and/or family history
of seizure disorder.

Absence seizures

• Sudden impainnent of consciousness ("staring spells")

• Preserved muscle tone
• Unresponsive to tactile/verbal stimulation
Cl inical features
• Short duration (<20 seconds)
• Simple automatisms frequently present
• Easily provoked by hyperventilation

Diagnosis EEG: 3-Hz spike-wave discharges during episodes

• Attention deficit hyperactivity disorder

Comorbidities
• Anxiety

Treatment Ethosuximide
EEG = electroencephalogram.
©UWodd

Clinical features of absence seizures & inattentive

staring spells

Absence seizures Inattentive staring spells

• Occurrence during all activities • Occurrence primarily during

• Length <20 seconds "boring" activities

• Lack of response to vocal or • Variable length, often >1 m inute

tactile stimulation • Response to vocal or tacti le
• Presence of automatisms stimulation
• Lack of automatisms

(c)IJWn rlri

o Valproic acid is second line.

Seizure Vasovagal s yncope

• Lack of sleep

Triggers
• Flashing light
• Emotiona l stress ..
• Prolonged standing
Physical/emotional stress
• Alcohol withdrawal Heat
• Idiopathic

• Preceding aura (eg, olfactory

• Preceding lightheadedness (ie, presyncope)
hall ucinations}
• Unlikely to occur while sleeping/sitting
• Can occur with sleeping/sitting
Clinical • Uncommon to have clonic jerks {ca n occur with prolonged
• TonicJclonic movements
clues cerebral hypoperfusion)
• Rapid, strong pulses
• Weak , slow pulses
• Tongue biting
• Pallor & diaphoresis
• Incontinence

• Delayed retum to baseline (postictal

Sequelae • Immediate return to baseline
drowsiness or confusion)

 Myoclonic seizures:
o Most prominent in the first hour after awakening.

pg. 225
 o Brief, symmetric muscle contraction.
o Loss of body tone with falling forward.
o Treatment: valproic acid.

Genera llized seizures Vasovaga l syncope Cardiogenic syncope

. Fever
• Prolonged
stending • E"'er1ion
Triggers • Hypoglycemia
• Phy icallemotional • Dehydration
• Sleep depnvahon
stress

.• +/. preoeding ura

loss of
consciousness &
• Pr ~oopo(eg ,
Ughlheadedness,
p Hor diapho esls)
• Sudd n lo or
consciousness
withou t prodrome
Clln l'cal
reature 11 tone, tonic-olonic i Immediate rah.1m i Immediate return lo
convulsion to besoline oner be line altor event
evont
• Po ticl I le

IPUWO!k!

Febrile seizures:

Febrile seizure

• Fever from mild viral {eg , influenza,

adenovirus, HHV-{l) or bacterial infection
Risk factors
• Immunizations (DTaP, MMR)
• Fam,1y n,story

Diagnostic
• Age 6 montns-6 years
• Temperal ure = C (100.4 F)
• No history of previous afebnle se12ures
criteria
• No CNS infection
• No acute systemic metabolic cause of seizure

• Simple:
• Nonlocal (tooic-dooic or atonic)
o 1 episode <15 minutes or multiple
·epi50des <30 minutes
Subtypes
• Complex:
o Focal
o 1 episode >15 minutes or multiple
"episoces >30 minutes

• Aboruve therapy 1f seizure~ minutes

Management
• Reassura nce/education

~ --
Remaining· 01 . 22
Tutor

• Reassunmce/educabon

• Nomlal developmenlfll el1ig<i<l<:e

Prognosis • - 30'11, nsk ol recuTence
• <5'11, nsk of epilepsy

DfaP .s Dlphth9nl, llltanus, llnCII,,.,...... -- ~~sysa.m;

HI-N -6 = ~ h@rpmWllS 6; MIIR = ~ . fflUT1II-. nmal,,;a
C UWOIOI

pg. 226
 Febrile seizure

Risk factors
• Fever (typically with viral ill ness)
• Family history of seizures

• Age 6 months lo 5 years

Diagnostic criteria
• No previous afebrile seizure
• No signs of CNS infection
• No acute metabol ic cause (eg , hypoglycemia)

• Abortive therapy (~5 min)

Management • Symptomatic care (eg, anlipyretics)
• Reassurance

• No long-term sequelae
Prognosis • j risk of subsequent febrile seizure
• Slight t risk of epilepsy (-1%)

• LP, EEG, and imaging for complex febrile seizures.

• LP indications:
o Infants age 6-12 months with unknown immunization for strep pneumonia or
Hib.
o Patient is already on antibiotics which would mask meningitis.
o Persistent neurologic abnormalities.

Management of seizures:

• Abortive therapy should be provided for seizures lasting 5 minutes or more due to
risk of airway compromise.
o Lorazepam  lorazepam  fosphenytoin  phenobarbital  general
anesthesia.
• Lorazepam: first-line therapy for prolonged seizures.
• Phenytoin: primary generalized tonic-clonic seizures or focal seizures.
o Side effects: gingival hyperplasia, megaloblastic anemia, steven-johnson
syndrome, and toxic epidermal necrolysis.
 Cerebellar dysfunction: horizontal nystagmus, ataxia, dysmetria,
slurred speech, nausea/vomiting, hyperreflexia.
• Severe: altered mental status, coma, paradoxical seizures, and
death.
• Rapid infusion: hypotension and bradyarrhythmia.
 Toxicity occurs in those with renal/hepatic failure, inhibitors of
CYP450, and displacers of the plasma protein bound phenytoin.
• Carbamazepine: use for the treatment of generalized seizures and focal seizures.
o Side effects: DRESS, agranulocytosis.
 C/P:
• Fever.
• Diffuse morbilliform rash that progresses to a confluent
erythema with accentuation of the hair follicles.
• Facial edema.
• Lymphadenopathy.
• Eosinophilia.
 Stop the medication and then shift to valproic acid.
• Discontinue anti-epileptic medications for someone who does not get a seizure for 2
years.

pg. 227
Neonatal seizure: seizures in the first 12-24 hours of life.

• CNS immaturity.
• Etiology:
o Hypoxic ischemic encephalopathy: most common.
o CNS infection or hemorrhage, drug withdrawal.
o Structural abnormalities.
o Inborn errors of metabolism.
• Evaluation:
o CBC, electrolytes, glucose, CT scan.
o Blood, CSF or urine cultures if needed.
• Treatment: lorazepam, phenobarbital.

Cause Presentation Associations

Hypoxic ischem ic 12-24 hours Term; cerebra l pa lsy
encephalopathy
lnt raventr icu lar hemorrhage 1-3 days Pret e rm
M etabolic Variable IDM, inborn errors of
metabolism, DiGeorge syndrome
Infection Variable TORCH , materna l fever,
sepsis/men ingitis

Lennox-Gastaut syndrome:

• Presents with intellectual disability and severe seizures of varying types.

o Developmental delay or loss of milestones after onset of seizures.
• Presents by age 5.
• EEG shows slow spike-wave pattern.
• Treatment:
o Anticonvulsant and ketogenic diet

Landau-Kleffner syndrome:

• Regression of language skills due to severe epileptic attacks.

• At the age of 3-6.

Infantile spasms:

 Symmetric contractions of neck, trunk, and extremities.

o Not generalized.
o No fever.
 Pathophysiology: increased CRH.
 Types: cryptogenic or symptomatic.
 EEG: hypsarrhythmia.
 Treatment: ACTH or prednisone.
 Can be associated with tuberous sclerosis.
 Differentiate from benign myoclonus of infancy by the fact that benign myoclonus
occurs when infant goes to sleep and normal EEG.

pg. 228
MELAS:

• Mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes.

• C/P:
o Hemiparesis.
• Diagnosis:
o Serum lactate/pyruvate, creatine kinase.
o Muscle biopsy can confirm this diagnosis.

Head trauma:

Evaluation of head trauma in children age 2-18

Clinical scenario Recommendation

Any of the following:

• Focal neurologic findings
• Skull fracture, especia lly signs or basilar
sku ll fracture Head CT without contrast
• Seizure
• Persistent altered mental status
(eg, agitation , lethargy, slow response)
• Prolonged loss of consciousness

GCS = 15 with any or the following :

Clinician preference:
• Vomiting
• Headache
Observation for 4---6 hours
• Questionable or brief loss of consciousness
• Injury caused by high-risk mechanism of OR
injury Head CT without contrast
• Severe mechanism of injury•

Minor head trauma (GCS = 15 with non-severe

mechanism & no vomiting , headache, loss of No head CT
consciousness, or signs of fracture)

• Severe mechanism: car aash with patient ejection, passenger fatality, or rollover: pedestrian ve,sus
car, !al height >5 ft; or head M by high-impact object
© UWO!td

• Mild TBI
o Vomiting.
o Headache.
o Amnesia before/after injury for <24 hours.
o Induces LOC for less than 5 minutes,
o Alteration of mental status at the time of injury.
• Serious TBI induces LOC for more than 5 minutes.
• Serious traumatic brain injury necessitates:
o Neuroimaging.
o Neurological exam every 2 hours.
o Neurosurgical consultation.

pg. 229
 Basilar sku ll f ractures

Periorbital hematomas Mastoid or postauricular ec.chymosis

(raccoon eyes) (Battle sign)
C,uw,,,,

Pediatric traumatic brain injury (PECARN rule)

• Alte red mental status (fussy behavior)
• Loss of consciousness
High-risk features
• Severe mechanism of injury (fall >0.9 m [3 ft], high impact, MVC)
age <2
• Nonfronta l sca lp hematoma
• Palpable skull fracture

• Altered mental status (eg, somnolence, agitation )

• Loss of consciousness
High-risk features
• Severe mechanism of injury (fall >1.5 m [5 ft], high impact, MVC)
age ~ -1 8
• Vomiting, severe headache
• Basilar skull fracture signs (eg, CSF rh inorrhea)

Management • Head CT scan without contrast

CSF = cerebrospinal fluid ; MVC = motor vehicle collision .

Abusive head trauma:

• Shaken baby syndrome:

o Repetitive acceleration-decceleration forces causing shearing of dural veins
and coup-countrecoup injury  subdural hematoma.
o Retinal hemorrhage.
o Can cause diffuse axonal injury.

Concussion:

Concussion
C linical • Transient neurologic disturbance (eg , dizziness, disorientation, amnesia) after mi ld TBI
features • No structura l intracranial injury

• Remove from same-day physical play

• Neurolog ic evaluation
• Rest for ~24 hr
Management • Gradual return to nonnal activity if symptoms do not worsen
o Physical: light aerobic exercise ... noncontact sports ... contact sports
o Neurocognitive: limited screen time, school accomm odations (eg, freq uent breaks,
shortened days)

pg. 230
 Postconcussion syndrome
• Nonadherence to gradual return-to-play protocol after concussion
Ris k factors
• History of multiple concussion s

• Prolonged (>4 weeks) concussion symptoms after mild TBI:

o Headache
o Dizziness
Clinical features o Sleep disturbance
o Mood changes
o Cognitive impairment
• No structural intracranial injury

• Symptomatic care
Management
• Activity as tolerated

TBI = traumatic brain inj ury.

• Postconcussion syndrome will improve within 3 months.

o Interventions:
 Headache management: amitriptyline.
 CBT for insomnia and anxiety.
 Reassurance.

Cerebral palsy:

Cerebral palsy

• Prematurity
• Intrauterine growth restriction
• Intrauterine infection
• Antepartum hemorrhage
Risk factors
• Placental pathology
• Multiple gestation
• Maternal alcohol consumption
• Maternal tobacco use

• Physical , occupational & speech therapies

Management
• Baclofen & botulinum toxin for spasticity

• Intellectual disability
• Epilepsy
Comorbidities
• Strabismus
• Scoliosis
© USMLEWorid, LLC

Cerebral palsy

• Prematu rity
Risk factors
• Low birth weight

• Delayed motor milestones

Cl inical features • Abnormal tone, hyperreflexia
• Comorbid seizures, intellectual disability

• Clinical (usually by ag,e 1-2)

Diagnosis
• Brain MRI (eg, periventricu lar leuko:malacia, basal ganglia lesions )

• Physka l, occupational, speech therapies

Management • Nutritional support
• Antispastic medications

• Nonprogressive motor dysfunction.

• Three subtypes:
o Spastic.

pg. 231
 o Dyskinetic,
o Ataxic.
• In prematurity: spastic diplegia is common.
o Hypertonia and hyperreflexia in the lower extremities.
o Equinovarus deformity.
o Clasp-knife rigidity.
o Commando crawl due to contractures of the LL.
o Magnesium sulfate given in premature births can reduce the risk of it.

Cerebra1I Palsy:
• Nonprogressive injury t o t he growirig br-.i iri, however the sequa lae (a ka
ma1111 ifest atio ris I are progressive.
o As in if you do br.i iri irnagirig 1110,w and one after a couple of years, t rne lesiori
wou ld be exatt ly the same. But his ~mptorns Md signs ·would have
progr,essed.
• Generally, t he cause is birth aisphvxia.
o Maniy r isk fac:tors, most importa 111tl'ji' is prematurity.
• Physica l exam i111Mion: do genera l, n,eurologicail, resp irat ory, etc. (idk).
• Diag11101, is:
o Cranial IJS in the ea rly neo nata l perioa ..
o MRI in oldie r infants.
• Three types:
o Non-spasti c:
■ Ataxic.
• Cer,ebe ll urn is affected.
• l'111te111tion tremor, lack o,f balanioe and coordinat ior1.
■ Dvskinetic.
• Sa1sal gan1glia a re affetted.
o Or1e of t he causes would be kemicterus (neonata l
jaundioe).
o Chorea, aithetosis, dystoniia, etc.
o Spastic.
■ C@ r@bra I cortex is affected!.
■ Most common type.
■ Spast ic diplegic a1ssodaitedl w ith prernaturit v,.
• Mult id isdplinarv appr,oach:
o Pediatric:iani.
o Pediatric rieuro l,ogist
o Di,etit ian.
■ PEG f,eed ir1g tube m ight be n1ecessary i111 esophageal dysfunction.
o Speech therap 1st
o Physiot rnerapist.
o Oocupat ion:al t herapist
• Ma111agern@111t:
o Stage 1.: physiotherapy regularl'ji'.
o Stage 2.: add badofe ri ioral).
o Stage 3: add Botox.
o Stage 4 : t reat con,t ractures w ith surgei-v.

Childhood brain tumors:

pg. 232
 • 2nd most common malignancy in children.
• Infratentorial.
• Presentation determined by location.
• Best initial test is CT.
• Craniopharyngioma:

Craniopha1ryngioma
• Benign, slow growing
Epidemiology • Derived from remna nts of Rathke pouch
• Bimodal age distribution (age 5-14 & 50~75)

• Optic chiasm compression --> bitemporal hemianopsia

• Pitu itary stalk compression --> endocrinopathies
Clinical features o Growth failure in children (. TSH or l GH)
o Pubertal delay in ch ildren or sexual dysfu nction in adults (l LH & FSH)
o Diabetes insipidus (l ADH)

Diag nosis • MRI/CT scan : calcified &/or cystic suprasellar mass

Treatment • Surgical resection ± radiation therapy

ADH = antidiuretic hormone; FSH =folllicle-stimulating hormone; GH =growth hormone; LH = luteinizing hormone;
TSH = thyroid-stimulating hormone.

• Medulloblastoma:

Medulloblastoma
• Most common malignant pediatric brain tumor
• Posterior fossa tumar
Epidemiology
o Originates in cerebell um
o Often compresses fourth ventricie

• Cerebellar dysfunction
o Truncal/gait ataxia (cerebellar vermis)
o Dysmetria, intention tremor (cerebellar hemispheres)
Clinical features • Obstructive hydroce phalus (i ICP)
o Headache, vomiting
o Papilledema
o Abducens nerve palsy

Treatment • Resection, craniospinal rad iation , chemotherapy

• Pilocytic astrocytoma:
o Most common tumor of the posterior fossa.
o Arises from lateral cerebellar hemispheres.
o Cystic mass.
o C/P:
 Dysmetria.
 Intention tremor.
 Dysdiadochokinesia.
 Headache.
 Vomiting.
o Most common hemispheric tumors in children are low-grade astrocytomas:
 Aphasia.
 Hemiparesis.
o Rosenthal fibers; GFAP +ve.
• Ependymomas:

pg. 233
 o Arises from the ependymal cells.
o Most commonly in the 4th ventricle.
 Scattered calcifications.
 Causes obstructive hydrocephalus.
o Perivascular pseudorosettes.
• Retinoblastomas:
o Most common intraocular tumor in children.
o C/P:
 Leukocoria: absent red reflex.
• Perform a fundoscopy.
 Strabismus.
 Nystagmus.
 Vision impairment.
 Ocular inflammation.
o Rb gene.
 Associated with osteosarcoma.
o Ocular US and MRI are indicated to detect the size and extent of the tumor.
 For confirmation.
 Biopsy not performed due to risk of seeding.
o Treatment:
 Surgery; cryotherapy and enucleation.
 Chemotherapy if metastatic.

• Choroid plexus papilloma:

o C/P:
 Intraventricular mass.
 Ventriculomegaly.
o Increased CSF production.
o Diagnosis:
o US.
o MRI; confirm the diagnosis.
o Treatment: resection.

pg. 234
 Choroid plexu5 p:iipilloma

• Pinealoma:
o C/P:
 Parinaud Syndrome; dorsal midbrain;
• Limitation of upward gaze; superior colliculus/pretectal area
affected.
• Bilateral eyelid retraction. (collier sign)
• Light-near dissociation. (pupils accommodate but don’t react to
light)
 Obstructive hydrocephalus; cerebral aqueduct affected:
• Headache, vomiting.
• Papilledema.
• Ataxia.
o The most common pinealoma is a germinoma that secretes B-HCG.
 Precocious puberty in boys.
o Trilateral retinoblastoma: bilateral retinoblastoma + pineal gland tumor.

Clinical features of pineal gland masses

Parinaud
• Limited upward gaze

syndrome
• Upper eyelid retraction (Colllier sign)
• Pupilllary abnormalities (ie, reactive to accommodation but not to light)

Obstructive • Papi llledema

hydroceplha.lus • Headache, vomiting

• Ataxia

• Optic nerve glioma:

o Most frequent optic nerve tumor.
o C/P:
 Unilateral vision loss, proptosis.
 Eye deviation, optic atrophy.
o Treatment:
 Chiasm involvement: radiation plus chemotherapy.
 Proptosis/visual loss: surgery.

pg. 235
 Manifestations of central nervous system tumors by location

.Supratentorfa l • ICP-, seiZures

Posterior ICP", allDcia, clumsineS5

fossa

Bralnstem Ai axia. clumsiness, cranial ner,e palsies

Sp inal cord Back pain, weakness, aooonnal gait

'M<lri>g-_ '"1rrimg. ~ m a ~ l y.
ICP = Elrar..nal p,es,;g;e_
C)UWorld

Pediatric brain tumor locations

Optic glioma

Supratentorial

lnfratentorial
(posterior Iossa)

Craniopharyngioma

ependymoma
Brainstem glioma

Increased intracranial pressure

• Traumatic brain injury; hemorrhage

• lntracra nfal mass or infection
Etiology
• Hydrocephalus
• Idiopathic intracranial hypertension

• Headache, vomiting, lethargy

Clinical features • Bulging fontanelle
• Pap:illedema

Diagnosis • Brain imaging

• Cerebral hern iation

Complications
• lschemia

Demyelinating disorders:

• Guillain-Barre syndrome:
o After diagnosis of GBS  do a spirometry; serial measurements of FVC are
the best means to monitor respiratory function.
 Decline in FVC (especially more than 20ml/kg) indicates respiratory
failure.
 If spirometry isn’t available  peak flow meter.

pg. 236
 o Presence of autonomic symptoms differentiates it from tick-borne paralysis.
 Severity of autonomic symptoms correlates with severity of GBS.
o Recovery follows the inverse order of the initial disease progression.

Guillaln Barre syndrome

.•
Immune-mediated po'lyne11ropathy due to cross-reacting antibod ies
Epidemiology
Often preceded by gastrointestina l (eg, Campylobacter) or respiralory infection

. Symmetirlc muscle weakness

• Absent/depressed deep tendon reflexes
Manifestations • Paresthesias
. Autonomilc dysfunction (eg, arrhythm ia, ile11s)
. Respiratory oompro01ise

• Largely o1 in ical

Diagnosis
• Supported by:
o CSF: protein & normal leukocyte c,ount
0 Electmdiagnostic findings

Treatment
. Mon itor autonomic &. respiratory function
• Intravenous iimmunogl,obulin or plasimaphere.sis

Differential diagnosis of neuromuscular weakness

Upper motor neurons Periphera l nen1es Neuromuscular Junction

• Leukodystrophies
• \lasculitis
- Brain mass
- Vitamin 8 12. deficiency
• Hereditary primary motor • Myasthenia gravis
sensory neuropat hy • Lamber t-Eaton syndrome
• Guillain-BarrE' syndrome • Organophosphate
, Diabetic neuropathy poisoning
• Amylold neuropa thy • Botu lism
lmyeloma)
• Lead poisoning

'
'

Musdefibers
Anterior horn ce ll s • Muscular dystrophies
• Spinal muscular atrophy • Polymyositis & dermatomyositis
, Amyotrophic lateral sclerosis • Hypothyroidism
• Par;aneoplaslic syndromes • Cort icosteroids
• Poliomyelitis . HIV myopathy

Friedreich ataxia:

• Autosomal recessive. Trinucleotide expansion of GAA on chromosome 9 encoding

an iron-binding protein.
o Impairment of mitochondrial functioning.
• Degeneration of corticospinal, spinocerebellar and dorsal columns. Plus, dorsal root
ganglion.
• C/P:
o Staggering gait.
o Frequent falling.
o Loss of proprioception and vibration sense.

pg. 237
 Nystagmus.
o
Dysarthria.
o
Pes cavus.
o
Hammer toes.
o
Diabetes mellitus.
o
Hypertrophic cardiomyopathy.  MCC death from fatal arrhythmia or CHF.
o
Myocarditis:
o
 T wave inversion on ECG.
o Kyphoscoliosis.
o Personality changes.
• Mean survival age 30-40.
• Diagnostics:
o Nerve conduction studies.
o MRI of the brain and spinal cord.
o Best diagnostic test  genetic.
• Treatment:
o Multidisciplinary supportive care.
o Monitoring of complications.

Friedreich ataxia

• Autosomal recessive
Genetics
• Loss-of-function, trin ucleotide repeat (GAA) in frataxin gene

• Neurologic deficits
o Cerebellar ataxia
o Dysarthria
o Loss of vibration and/or position sense
Clinical features
o Absentdeeptendonreftexes
• Hypertrophic cardiomyopathy
• Skeletal deformities (eg, scoliosis)
• Diabetes mell itus

• Mean survival age 30-40

Prognosis
• Mortality due to card iac dysfunction (eg, arrhythmia, congestive heart failure)

pg. 238
 !Friedreich ataxia

Loss cl prcpnoception & vib ra~on sense

SpillQCerebellar Dorsal
llaCIS (al8l<18) columns
Hypentopli'c
cardiQITTYl)pijlhy
I>.

Spinal muscular atrophy: Werdnig-Hoffman disease

• SMN1 gene mutation.

• Proximal muscle weakness and hyporeflexia.
o More prominent in the lower extremities.

pg. 239
 ENT

Foreign body:

• C/P: unilateral bacterial infection.

• Clinical diagnosis.
• Treatment: treat infection and remove FB;
o Ear and nose: first use positive pressure techniques then go for forceps.
 Purulent, bloody, malodorous discharge.
o Trachea: bronchoscopy.
o Esophagus: endoscopy.
o ^^ diagnostic and therapeutic.
• Insects: scratching or buzzing.
o Do not shine light down the canal; It will go deeper.
o Instead use lidocaine to paralyse it.

Hearing impairment:

• Congenital or acquired.
• MCC is repeated ear infections.
• Poor language development and social skills if remains undetected.

Juvenile nasal angiofibroma:

• C/P:
o Nasal obstruction.
o Visible nasal mass.
o Frequent nose bleeds.
• In the back of the nose or upper throat.
• Benign growth, capable of invading and eroding locally.
• Treatment:
o No treatment.
o Unless tumor is enlarging, obstructing airway or causing chronic nosebleeds
 remove the tumor.
 Recurrence after removal is common.

pg. 240
 OPHTHALMOLOGY

Vision assessment:

• To assess for visual abnormalities at well child visits.

• Infancy: observation fixation and tracking.
• Three years: horizontal and vertical tracking.
• What to test:
o Monocular visual acuity assessed by Snellen chart or numbers or tumbling E-
chart at 3 years.
 HOTV (4-letter) or LEA (picture) chart may be used for children with
limited or no ability to identify letters.
 Visual acuity less than 20/40 at age 4 or worse than 20/30 above age
of 5 or more necessitates further evaluation for refractive errors.
o Red reflex testing for congenital cataract or retinoblastoma.
o Corneal light reflex testing for ocular alignment.
o Cover-uncover test for strabismus.
o Other indications for referral:
 Abnormal red reflex, misalignment, pupillary asymmetry by >1 mm,
corneal asymmetry, ptosis or other lesions obstructing the visual axis,
and nystagmus.

Amblyopia:

• Cortical blindness.
• Due to strabismus or congenital cataracts.
• Happens only during development.
• No diagnostic step aka clinical diagnosis.
• No treatment.
• Prevention by correcting underlying illness..
Amblyopia

• Functional reduction in visua l acuity due to visual disturbances in ea rl y child hood

Defini tion • Unilatera l (most common): :?:2-line difference in vision between eyes (eg, 20130 & 20150)
• Bilatera l: vision worse tha n 20140 at age :?:4

• Strabism us
Etiology • Asymmetric refracti ve error
• Vision deprivation (eg , cataracts, ptos is)

• Corrective lenses
• Encourage use of amblyopic eye
Man agement o Patching eye with better vision
o Cyclopleg ic drops to blur norma l eye
• Surgery (eg, cataract removal)

Strabismus:

pg. 241
 Strabismus (ocular misalignment) Normal eyes & strablsmus

• Constant strabismus at any age

• Eye devia~on after 4 months of age
A b normal • Asymmetric cornea l light reflexes
findings • Asymmetric intensity of red reflexes
• Deviation on cover test
Nonnal eyes
• Torticollis or head tilt Red reflexes & corneal light refle~es a,e equal

• Penalization therapy: Cycloplegic

drops to blur normal eye
Treatment • Occlusion therapy: Patch normal eye
options
. Prescription eyeglasses
• Surgery

• Amblyopia Asymme1rlc reflections

Complications
. Diplopia
.......
In strabismus. the red rellei1 is mote Intense in the deviated eye. The
corneal light retlexes are also asymmetric.

• Strabismus is normal in the first 4 months of life.

• More commonly due to nasal deviation (esotropia) than temporal deviation
(exotropia).
• New onset strabismus can be a sign of retinoblastoma if accompanied by white eye
reflex.
• Cyclopentolate for penalization therapy.
• Pseudostrabismus: epicanthal fold covering nasal sclera.

Retinitis pigmentosa:

Retinitis pigmentosa Retinitis pigmentosa

• Genetic mutation causing loss of photoreceptors

Etiology • Progressive reti nal degeneration
• Symptom onset from age 10 throug h adulthood

• Night blindness
Cli nical features • Progressive visual field loss (eg, midperiphery)
• Decreased visual acuity (late finding)

Funduscopic findings • Retinal vessel attenuation, optic disc pallor, abnormal retina l pigmentation

Prognosis • Most are legally blind by age 40

• Decreased visual acuity due to degeneration of the cones.

• Management:
o Omega 3 fatty acids slows down the progression of the disease.

Corneal abrasions:

• C/P: pain, tearing, photophobia, decreased visual acuity.

• Diagnosis  fluorescein dye, wood’s lamp.
• Treatment  topical antibiotics + topical cycloplegic drugs.

pg. 242
Glaucoma:

Glaucoma in children
• Optic neuropathy ± j IOP
• Causes:
o Impaired drainage of intraocular fiuid
Pathophysiology o Primary anatomic abnonmality (eg, angle dysgenesis)
o Sturge-Weber syndrome
o Tumor, trauma, infection involving the angle
o Corticosteroid-induced

• Tearing, photophobia, blepharospasm

• Enla rg ed cornea and/or globe
Key features
• Optic nerve cupping
• Tonometry: t IOP

• Surgery
Management
• ± Pressure-reducing eye drops

IOP = intraocular pressure.

pg. 243
 PSYCHIATRY

Developmental milestones:

Developmental milestones during first year of life

Age
Gross Motor Fine Motor Language Social/cognitive
(months)

• Hands unfisted
• Social smile
50% of the time • Alerts to voice/sound
2 • Lifts head/chest in prone position • Recogn izes
• Tracks past • Coos
parents
midline

• Hands mostly • Enjoys

• Sits with trunk support • Laughs
4 open looking
• Begins rolling • Turns to voice
• Reaches midline around

• Transfers objects
• Sits momentarily propped on hands • Responds to name • Stranger
6 hand lo hand
(unsupported by 7 months) • Babbles anxiety
• Raking grasp

• 3-finger pincer
• Waves "bye"
• Pulls to stand grasp
9 • Says "dada," "mama" • Plays "pat-a-
• Cruises • Holds bottle or
cake"
cup

• Separation
• Stands well
• 2-finger pincer • Says first words other anxiety
12 • Walks first steps independently
grasp than "dada," "mama" • Comeswhen
• Throws ball
called
-

pg. 244
 Developmental milestones during toddlemood

Age Gr,oss motor Fine motor Language Social/Cognitive

.. Stands wel l
. . .• Separation anxiety
12 Walks firs,t steps 2-finger pince r Says first words (otne r Follows 1-step
months independenUy grasp than "mama• & "dada") commands with
• Throws a ball geslures
. Bu ilds a tower . 10- lo 25-word
•
18
months . Runs
Kiicks a ball . of 2-4 cubes.
Removes . vocabulary
Identifies. 2:1 body .• Understands "mine"
Begins pretend play
clothi ng parts

. Wallks up/down stairs

. . Follows 2-step

2 years
with both feet on each
Builds a tower
of6 cubes
.. Vocabulary 2:50 words
. commands
Parallel play

•
step
Jumps
. Copies a line
2-word phrases
. Begins tonel
training

• Walks up/down stairs

. Copies a circle
.• 3-wor,d sentences
. Knows age/gender
3 years
. with alternating feet
Rides tricycle
• Uses utensil:S
Speech75%
intelligible
. lmaginabive play

. Balances & hops on 1

. .. ldenlifies colors
.
4years Copies a cross Speech 100% CooperaHve p1ay
foot
intelligible

. Copies a

. Skips
. squa re
Ties shoelaces . Counts to 10
.• Has friends
5 y&ars •· Gatches balll with 2 Completes toilet
hands
• Dresses/bathes • 5-wor,d sentences
training
lndependenUy
. Prints ratters

• Toilet training:
o Begin at 2 years of age or more with the acquisition of the following skills:
 Walking.
 Imitating others’ actions (sitting on toilet).
 Following 2-step commands.
 Removing pants.
 Communicating the need to urinate and stool.
 Voluntarily control sphincter.
o Premature initiation can prolong duration of training.
o Bedwetting normal before age of 5.
o Boys take longer.
o Use positive reinforcement.
• Depression screening at age 12.

Language disorder:

• Deficit in understanding (comprehension; receptive) and/or producing (production;

expressive) language.
• Limited vocabulary, inaccurate sentence structure, or difficulty using language to
explain concepts or create a story.
• Physical aggression or temper tantrums.
• Increases risk of specific learning disorders.
• Management:

pg. 245
 o Structured language therapy and stimulating language development at school
and home.

Autism:

Autis m spectrum disorder

• Defi cits in socia l communication & interactions with onset in early development
0 Sharing of emotions or interests
0 Nonverbal comm uniication
0 Developi ng & understanding re lationships

Clinical features
• Restricted , repetitive patterns of behavior
0 Repetitive movements or speech
0 lns;istence on sameness/routines
0 Intense fixated interests
0 Adverse responses to sensory input

• May occur with or w ithout languag:e & intellectual impairment

Assess ment & • Early diagnosis & intervention

management
• Comprehensiive, multimodal treatment (speech , behavioral tlierapy, edlucationa ll
services)
principles
• Adjunctive pharmacotherapy for psychiatric comorbidities

• Changes in routines commonly causes anxiety and temper tantrums.

• Autism screening test done at 18 months and 2 years.

Obsessive compulsive disorder:

Obsessive-compulsive disorder

Obsessions
• Recurrent intrusive, anxiety-provoking thoughts, urges, or images
• Altempts to suppress or neutralize with other thoughts or
actions (compulsions)
• No relaoon to another mental or substance use disorder
Compulsions
Diagnostic • Response to obsessive thoughts with repeated behaviors or
criteria mental acts
• Excessive behaviors intended lo reduce anxiety or avoid
dreaded outcome
• Behaviors not connected realistically with preventing
anxiety/feared event
Obsessions &/or compulsions consume >1 hr/day, cause significant
distress, or interfere with daily routine or social functioning

• Cognitive behavioral therapy (exposure & response prevenllon)

&/or a high-dose selective serotonin reuptake inhibitor
Treatment • Ctomipramine or antipsycnolic augmentallon for
treatment nonresponse
• Deep-brain stimulation for treatment of severe or refractory cases

• SSRIs are first line.

• Pediatrics acute-onset neuropsychiatric syndrome (PANS); rare subset of OCD
which start abruptly.

pg. 246
Tourette syndrome:

Tourette syndrome

• Both multiple motor & <!:1 vocal tics (not

necessarily concurrent, >1 year)
0 Motor: Facial grimacing, blinking, head/neck
Clinical jerking , shoulder shrugging, tongue protrusion,
features sniffing
o Vocal : Grunting, snorting, throat clearing, barking ,
yelling, coprolalia (obscenities)
• Onset age <18

• Behavioral therapy (habit reversa l training)

• Antidopaminergic agents
Treatment o Tetrabenazine (dopamine depleter)
o Antipsychotics (receptor blockers)
• Alpha-2 adrenergic receptor agonists

Tourette syndrome

• Both mulitiple motor & ~1 vocal tics (not nece,ssarily concurrenl >11year)
0 Motor: facia l grimacing, blinking, head/neckjierking, shou lder slhru:ggiing,
Clinical tongue protrusion, sniffing
features 0 Vocal: grunting, snorting, throat deaning, barking, yelling, copmlalia
(obscenities)
• Onset age <18

Comorbiidity • Attention deficit h;,iperactivity disorder

• Obsessiive-compulsive disorder
• Education/watchful waiting if mild & nondisabling
• Behavioral therapy (habit reversa l! training}

Treatment
• A ntidopaminergic agents
0 Tetrabenazine (VMAT2 inhibitor)
0 Antipsychotics (receptor blockers)

• Alpha-2 adrenergic receptor agonists

Prognosis
• Severity peaks age 10-112

• Majority resolve or improve in adulthood; llics persist in 1/3

• More common in males.

• Abnormal EEG.
• Treatment:
o The most effective nonpharmacological therapy is habit reversal training.
o Pharmacological treatment started when condition affects functioning.
 Alpha adrenergic agonists are used for mild cases.
 Antipsychotics; haloperidol and pimozide.
• Replaced with risperidone.
 VMAT2 preferred over antipsychotics due to decreased risk of
adverse events.

pg. 247
 o Comorbid conditions:
 ADHD.
 OCD.

ADHD:

Attention deficit hyperactivity disorder

• Inattentive &/or hyperactive/impu lsive symptoms for ~6 months

0 Inattentive symptoms: difficulty focusing , diistractible, does not listen or follow
instructions, disorganized, forgetfu l, loses/misplaces objects
0 Hyperactivefimpulsive symptoms: fidgety, unable to sit stilll, "driven by a motor,"
Clinical
hypertalkative, interrupts , blurts out answers
features
• Severa l symptoms present before age 12
• Symptoms occur in at least 2 settings (home, school) & cause functional impairment
• Subtypes: predominantly inattentive, predominantly hyperactive/impulsive, combined
type

• Stimulants (methylphenidate, amphetamines)

Treatment • Nonstimulants {atomoxetine, alpha-2 adrenergic agonists)
• Behavioral therapy

• Teachers evaluation should be over 6 months and supplemented with ADHD rating
scales.
• Management:
o First line for preschool children with ADHD (age 4-5) or children with
problematic behavior that doesn’t meet criteria for ADHD  parent
management training (parent-child behavioral therapy).
o Methylphenidate ADRs:
 Hypertension.
 Tachycardia.
 Insomnia.
 Decreased threshold for seizure.
 Reduced appetite.
o Atomoxetine is nonaddictive.
• ADHD can be screened for using Vanderbilt Assessment Scales.

Selective mutism:

• Refusal to speak in specific social situation but speaks when comfortable.

• One month or more.
• Associated with social anxiety disorder.
• Treatment:
o Cognitive behavioral therapy.
o Family therapy.
o SSRIs.

Psychosis:

pg. 248
 Secondary causes of acute-omset 1
ps.ychosls In clrl lld'ren & adolescents

Central nervous system lnJury/d;ystuncUon

• Tramrna
• Space~oooupying lesions
• lnfec1io:n
• Slrok•e
• Epjle,psy
• Cerebral hypoxia

Metabollclelectrolyte dish.I rhances,

Medlcal disorders • Uirea cycle d ismders
• Acute intem1ittent porphyria
• Wilson disease
• Rena'Mlrver failure
• H:,tiPog lycemia
0

• Sodi11J m/ca'lci11J m/magnesimrn diistu rbanoos

syslem le dlso:rders
• Systemic lup11Js erytnematos11Js
• Thyroiditis

• Hallucinogens (eg, PCP, LSD ketamine)

1
,

• Ma.nij11Jana
1lllclt s1ubstamce use • Sympa~homimeiics {eg, cocaine, arnpnetarnines)
• Alooho'I withdrawa'I
• Bath salts

lntoxlcaOon
• AntidhoUnergics (eg1, diphenhydrarnine, sao,polamine)
• Serotonin sy111dmme
• Amoxiicillin/e:ryth romycin/clarilhromyoin
• Antioonv11J1sants
Medication sld'.e etfects • Coriicostero·ids
• lsoniazi.d

Wlfllldrawal
• Badlofen1
• Benz:od iazepines

Abuse:

• Two types of abuse:

o Abuse and neglect.
• Abuse is the positive symptoms:
o Intentional; active harm.
• Neglect is the negative symptoms:
o Passive.

pg. 249
 Features of possible child abuse

Caregiver background
• Young or single parents
• Lower education levels
• Drug or alcohol abuse
• Psychiatric conditions (depression, impulse control disorders)
• History of childhood abuse
Risk Home environment
factors • Unstable family situation (eg, divorce, conflict)
• Financia l difficulties , job loss
• Lack of social support
• Domestic violence
Victims
• Physical , intellectual , or emotional disabilities
• Unplanned preg nancy/unwanted ch ild

• Unexplained or implausible injuries

Clinical presentati on
• Injuries in different stages of healing
• Malnutrition
• Sudden behavioral or scholastic changes

• Presentation-injury:
o Fractures:
 Skull or femur.
o Bruises:
 Different stages of healing.
 Subdural hematoma.
o Burns:
 Dunk wounds.
 Punctate: cigarettes.
o Sexual:
 Any STD in any child.
 Anal or vaginal trauma.
Sexual behavior in preadolescents

Normal Abnormal

Toddler
• Exploring one's own or

.. others' genita ls
Masturbatory movements
Und ressing self or others
. Repeated insertion of
objects into vagina or anus
• Sex play involving gen ital-
genital , oral-genital, or anal-

School-age
• Increased interest in sex
. genital contact
Use of force , threats, or
bribes in sex play
words & play
• Asking questions about sex • Age-inappropriate sexual

& reproduction knowledge

• Masturbatory movements
(may become more
sophisticated)

• Presentation-child:
o Not crying.
o Runs from caretaker.
o Comfort in a HCP.
• Responsibility:
o Report to abuser/family.

pg. 250
  Tell them it’s for the child’s safety.
oReport to child protection services.
oLast resort: hospitalization.
 Separate from the abuser, or child-parent unit from abuser.
o Help the family cope.
• Consequences:
o FTT.
o Developmental delay.
o Learning disabilities.
o Physical disabilities.
o Death!
• Physical abuse:
o What to do?
 Photograph all visible lesions.
 Thorough history and physical exam.
 Separate from caregivers.
 Notify CPS/police.
 Inform caregivers of findings, CPS report.
 Court-case disposition.
Features of non-accidental trauma

• Vague or changing details

H istory • Injury inconsistent with child 's developmental stage
• S ibling described as responsible
Nonaccidental trauma
• Injury inconsistent with history
• Unstable family situation
• Multiple fractures or bruises in d ifferent healing stages
Risk factors • Vague history
• Likely inflicted injuries (eg , cigarette bum)
Exam ination • Injury inconsistent with developmental stage
• Poorly kempt child
• Bruises on neck, abdomen, or unusual sites • Bruises/fractures at various stages of healing
• Injury to genital ia, hands, back, or buttocks • Femur fracture in nonambulalory infant
Clinical features • Posterior rib fractures
• Argumentative or violent • Metaphyseal comer fractures
• Lack of emotional interaction with child • Retinal & subdural hemorrhages
Ca regiver
• Inappropriate response to child's injury
beh avior
• Inappropriate delay in seeking medical care • Skeletal survey
• Partial confession in causing injury Management • CT scan of the head
• Funduscopic examination
© UWor1d

o Bruises:
 Most common.
 Accidental: thin, surfaces overlying bone edges.
 Nonaccidental: buttocks, genital, back. Staging not compatible with
single events.
o Fractures:
 Corner chip or bucket handle fracture of metaphysis  pulling.
 Spiral fractures  twisting.
 Spiral fracture of femur before child is able to walk is usually inflicted.
• Management: conservative.
• It is common in early walkers  not a sign of abuse.

pg. 251
 Toddler's fracture

o Burns:
 Cigarette burns.
 Immersion burns:
• Glove-stocking pattern.
• Bathtub dipping.
o Uniform demarcation.
o Flexion creases spared.
o No splash burns.
o Hands and feet spared.
o Incompatible history.
Signs of deliberate scald injury

Injury patterns in nonaccidental trauma

Coup-c:ontrecoup

Linear
demarcation
with no splash
marks

Long bone
fractures in Subdural & epidural
the humerus hematomas
or femur

Linear-type Frenulum tears Retinal hemorrhage

immersion bums & gingival lesions on funduscopic
examination
C>uwona

• Physical abuse: studies:

o PT/PTT, platelets, bleeding time.
o <2years: skeletal survey.
o >2 years: film area of injury.
o Infants severely injured despite no CNS findings.
 Head CT scan +/- MRI, ophthalmologic examination.
o If abdominal trauma:

pg. 252
  UA and stool for blood.
 Liver and pancreatic enzymes.
 Abdominal CT scan.

Pyromania:

Pyromania

. Deliberate fire setting on ~1 occasions

• Tension , arousal prior to act; pleasure/relief when setting/witnessing fires
Clinical
. No external gain, revenge, or political motivation; not done to attract attention
features
. Not better explained by conduct disorder, mania, psychosis, antisocial personality disorder, or impaired
judgment (eg, neurocogn itive disorder, substance intoxication)

Conduct disorder:

• Repetitive and persistent pattern of violating major societal rules or the rights of
others.
• Diagnosis requires at least 3 of 15 behaviors that fall into 4 categories:
o Aggression towards people and animals.
o Deceitfulness or theft.
o Destruction of property.
o Violation of rules.

Oppositional defiant disorder:

• Characterized by a pattern of disobedient, defiant, and hostile behavior.

• Frequently loses their temper, disobey and defy their elders.

Oppositional defiant disorder

Pattern of angry/irritable mood, argumentative/defiant behavior, or vindictiveness for ;,,5 months
• Argues with adults, defies authority figures, refuses to follow rules
• Deliberately an noys others
Diagnosis
• Blames others for own mistakes or misbehavior
• Easily annoyed, angry, resentful, or vindictive
• Not due to another mental disorder

• Parent management training

Treatment • Psychotherapy (anger management, social skills training)
• No pharmacotherapy for ODD but assess for comorbid ADHD & treat if present

Trichotillomania:

Trichotillomania (hair-pulling disorder)

• Recurrent hair pulling resulting in hair loss

• Repeated attempts to decrease/stop hair pulling
DSM-5 • Significant distress or impairment
• Not due to a medical/dermatological cond ition (eg, alopecia areata)
• Not due to another mental disorder (eg, body dysmorphic disorder)

Treatment • Cognitive-behavioral therapy (habit reve rsal training)

pg. 253
 • Trichophagia (swallowing of hair) and subsequent formation of trichobezoars can
lead to abdominal pain and bowel obstruction.

Generalized anxiety disorder:

Generalized anxiety disorder in children & adolescents

• Excessive, uncontrollable worry (mu ltiple issues ) .:6 months

• .:1 of the followi ng symptoms:
o Restlessness; feeling on edge
Clinical o Fatigue
features o Difficulty concentrating
o Irritability
o Muscle tension
o Sleep disturba nce

Associated
features
.. Physical symptoms: stomachaches, headaches
Perfectionism

• Cognitive-behavioral therapy
Treatment
• SSRls or SNRls

• Adjustment disorder (response to identifiable stressor)

Differential
diagnosis ..
• Obsessive-compulsive disorder (intrusive thoughts; compulsive behaviors)
Separation anxiety disorder (anxiety focused on separation from caregiver)
Social anxiety disorder (fears of negative evaluation in social/performa nce situations)

• Medications are reserved for severe cases.

pg. 254
 RENAL

Red urine:

Evaluation of red urine

Red/brown urine,
heme-positive dispstick

Urinalysis

.i:3 RBC 0-2 RBC

I

Hernaturia J
t
Hemogloblnurlaj
- lntrava scular
Myogloblnuria
- Rhabdomyo1ysi s
j
hemolysis - CK
- l Hemoglobin &
haptog lobin

RBC = red blood cells; CK = creatone kinase CIIJW<>rld

• If hemoglobinuria  do CBC.

Ev lua'tion of hematuria in children

Hematu -
(~ RBC)

Glom
J Nongomerul

Sym omalic Asymptoma:

Creali ille,
oomplement
J Trauma -story
Uri~ryn.ct
infecoon
Perirneallmealal
im
Kidney S' ones
(i! .,_, c:ry11
Consider:
• Ren 1 ult~asouod
ev 1,.,cec ICI\'.,,_ ;ul•l
l'1
• Unne culture
• Ume Ca:C,r
!
Urine cu1ture,
CT bdomen Reassurance
anlibtotics

·F~of~I 1ncllldl miwn u~nr1. , ~~ . r,d R9C cesb

RSC .. red bl00(I Crll, CBC .. u,mpl~a tllODd 00uffl, C..;Cr =Cllcun 10 CfNlft'lt tabO

o IF low C3  check ASO titer for PSGN and ANA for lupus nephritis.
o If inconclusive but hematuria persists  renal biopsy.

Hypospadias/Epispadias:

pg. 255
 • Epi: dorsal.
o Due to malpositioning of genital tubercle.
o Associated with bladder exstrophy.
• Hypo: ventral.
• Clinical diagnosis.
• NEVER CIRCUMCISE.
o You will use tissue to rebuild.
Hypospadias
Dorsal hooded
Glans - - - - _ _ foreskin

Corona - -
Abnormal
- - urethral
Penile shaft _...-- opening

Normal urethral opening Hypospadias

Hypos padiias

Pathogenesis • Failure of urethral folds to fuse

• Ven!rally displaced urethral meatus

Clinic:al feature$ • Dorsal hooded foreskin

• ± Underdeveloped pen is & glans
• ± Penile cuivature (chordee}

• Defer circumcision
Ma nagement • Urolog ic eva luation fo r surgica.l repair
• ± Karyotype, pelvic ultrasound (tf severe)

Ectopic ureter:

• Ectopic ureter implants in an ectopic location.

• In boys usually above external sphincter
o Completely asymptomatic.
• In girls: normal function. But ureter can be connected below external sphincter thus
leads to urine leak.
• Diagnosis:
o US: hydronephrosis.
o VCUG: to rule out reflux.
o Radionucleotide scan to asses renal function.
• Treatment: remove it.

Wilms tumor:

pg. 256
 Wllms tumor (nephroblast.oma)

• Most common renal malignancy in children

• Peak age 2-5
• Usually sporadic but may be associated with:
Epidemiology 0 WAGR (Wilms tumor, Aniridia, Genitourinary
abnormalities, mental Retardation)
0 Beckwith-Wiedemann syndrome
0 Denys-Drash syndrome

Cllnlcal
• Usually asymptomatic

feature.s
• Unilateral abdominal mass
• ± Abdominal pain, hypertension, hematuria

• Surgical excision
Treatment • Chemotherapy
• i Radiation therapy

Prognosis • 90% survival rate with treatment

• Diagnosis:
o Urinalysis: hematuria.
o Ultrasound to confirm.
o CT of chest and abdomen  to check for metastasis.
• Arises from metanephros.
• Most common childhood tumors: leukemia  brain tumors  neuroblastoma 
wilms tumor.
• WAGR: 11p13 deletion.

Denys-Drash syndrome:

• C/P:
o Progressive renal (glomerular) disease.
o Male pseudohermaphroditism.

Beckwith-Weidemann syndrome:

• Deregulation of imprinted gene expression in chromosome 11p15, encodes IGF-2.

• C/P:
o Fetal macrosomia, rapid growth until childhood.
o Omphalocele or umbilical hernia.
o Macroglossia.
o Hemihyperplasia.
o Pancreatic beta cell hyperplasia  hyperinsulinism  hypoglycemia (at
birth).
• Complications:
o Wilm’s tumor.
o Hepatoblastoma.
• Surveillance:
o Serum AFP.
o Abdominal/renal US.
 Both every 3 months till the age of 4 years.

pg. 257
  Abdominal US only every 3 months from 4 years till the age of 8.
 Renal US only from age 8 till adolescence.

Beckwith-Wiedemann syndrome

• Deregulation of imprinted gene expression

Pathogenesis
in chromosome 11p15

• Fetal macrosomia, rap id growth until late

chi ldhood
Physical
• Omphalocele or umbilical hernia
examination
• Macroglossia
• Hemihyperplasia

• Wilms tumor
Complications
• Hepatoblastoma

• Serum a-fetoprotein
Surveillance
• Abdominal/renal ultrasound

Autosomal recessive polycystic kidney disease:

• Most common palpated abdominal mass in newborn.

• Cystic dilations of the renal collecting ducts.
• C/P:
o Hypertension.
o Bilateral palpable abdominal mass (enlarged kidneys).
 Periportal fibrosis and dilation of intrahepatic ducts.
o With or without pulmonary hypoplasia. (potter sequence)

Potter sequence:

• C/P:
o Pulmonary hypoplasia.
o Oligohydroamnios.
o Twisted skin.
o Twisted limbs.
o Epicanthal folds and low set ears.
o Renal failure.

pg. 258
 Potter sequence
Urinary tract anomaly
(eg, bilateral renal
agenesis) or PPROM
al <26weeks

Anuria/olig uria in utero

Severe
oligohydramnios
(! fetal compression)

Limb deformities

PPROM == pretem, pretabor rupture of membranes.

Obstructive uropathy:

• Obstruction of urinary outflow tract:

o Weak urinary stream.
o Proximal dilatation of tract  hydronephrosis.
o Recurrent pyelonephritis.
• Etiology:
o Ureteropelvic junction obstruction.
o Posterior urethral valves.
• Diagnosis by VCUG.
• Leads to potter’s sequence.

Ureteropelvic junction obstruction:

• Kidneys have hydro but not ureter, unlike ureterovesical junction obstruction.
• C/P:
o Normal except when there’s increased flow leading to obstruction.
o Teenager  alcohol binge  colicky abdominal pain.
 Spontaneously resolves.
• Diagnosis by US showing hydronephrosis. VCUG to rule out reflux.
• Treatment is surgical and may use stent sometimes.

Posterior urethral valves:

• MCC urinary tract obstruction in newborn boys.

• Progressive dilation of bladder, ureters and kidneys.
• Diagnosed prenatally.
o Prenatal US: bladder distention, bilateral hydroureters and hydronephrosis.
o Postnatal:
 Renal and bladder US.
 VCUG.

pg. 259
 K.eyhole sign

• Treatment:
o Foley catheter.
o Electrolyte correction.
o Cystoscopy; to confirm and for ablation of urethral valves.

Posterior urethral valves

Normal urinary system Posterior urethral valves

Urethra Urethra obstructed by congenital

posterior urethral membrane
© UWorld

Renal papillary necrosis:

• Causes: POSTCARDS
o Pyelonephritis.
o Obstruction of urogenital tract.
o Sickle cell disease.
o Tuberculosis.
o Cirrhosis of liver.
o Analgesic/alcohol abuse.
o Renal vein thrombosis.
o Diabetes mellitus.
o Systemic vasculitis.
• C/P:
o Painless hematuria.
• Episodes are usually mild and resolve spontaneously.

pg. 260
 • Urinalysis: normal-appearing RBCs.

Proteinuria:

Diagnosis of p,roteinuria

Asymptoma tic, isolated proteinuria

First moming1urine

Elevated Pr/Cr Normal Pr/Cr

Evaluate ·for
Positive protein on Negative protein on
glomen.ila r/parenchymal
subsequent UA subsequent UA
disease

Orthostatic proteinuria Transient proteinuria

Pr/Cr,. proteinJcrealinine ratio; UA = urinalysis.

©UWorld

• If child has proteinuria and negative hematuria:

o Repeat urine dipstick on at least two additional specimens.

• Transient (intermittent): most common cause of proteinuria.

o Can be caused by fever, exercise, seizures, stress, or volume depletion.
o Repeat urine dipstick twice.
 If proteinuria persists on a first morning sample or any of the initial
studies are abnormal refer to nephrologist.
• Further investigation: 24-hour urinary collection for protein,
renal ultrasound, and renal biopsy.
• Orthostatic proteinuria: very common in adolescent boys.
o Increased protein excretion when patient is in upright position. Returns to
normal in recumbent position.
• Persistent proteinuria.

Glomerulonephritis:

pg. 261
 Nep'hrntlc versus 111ephr1Uc syndrome

NephroUc sy;ndrome Neplllrltlc syndr,o me

• dema • Hypertension
• F Iii u_ • Oliguria
,c nnlcaf
f.e ture , • P ,o~ lnuni • H m tun
• Ab enc ofh m turi • rot inuria
mie • C I

• ptoco cal
Pediatric on phnl1
• Minimal chan . di o · s
etloto gf s
• H mQlyl1c uremic yndrom

• FS • lr,A nephropalhy
Adult • Membranous nephropathy • Mambranoproliferahve
etlofogtes • Memb.ranoproliferaliv,a
lomerulone phrilis
glom ruloneph'l'Ws • Oreso · nlic glomerulon -pti rills
lrl UWoJld

• Nephrotic: proteinuria >3g/day.

o Minimal change disease:

Mlnlmal change disease

• Most common cause of nephrotic

syndrome in clli1dren
Epldem lology
• Medi nag 2-3; 85% of cases
occur be lore 10 yea rs of age

• T-co ll modi tad injury to

podocylos ceusos increasod
Pathogen esl s molecular permeabll,ty to album,n
• Majority of cases are idiopathic

Clln ica'I
. d ma
• Fatig ue
features
• No hemaluria

• Proteinune
Diagnosis • Hypoalt>uminomia
■ Renal biopsy without microscopic
changes

Treatment Corticosteroids

t> UWood

 Edema in the periorbital region then genitals and legs.

 Microscopy:
• Normal light microscopy.
• Effacement of foot processes on electron microscopy.
 Proteinuria + hypoalbuminemia + edema + hyperlipidemia.
 Edema should be controlld by sodium restriction, sufficient dietary
protein and monitoring of fluid input and output.
 Fatty casts on urinalysis.
 Resistance to steroids  immunosuppressive agents and/or ACE
inhibitors may be needed.
• Give IV albumin and furosemide.

pg. 262
  Complications: infection or thromboembolism.
 Biopsy indications:
• Children age >10 with nephrotic syndrome.
• Steroid-resistant or progressive disease.
• Nephritic:
o IgA nephropathy:
 Associated with HSP. Four to six weeks after onset of illness.
 IgA deposition in the mesangium.
 C/P:
• Gross hematuria during or immediately after an infection.
 Diagnosis: based on clinical presentation and lab tests.
• Increased IgA in serum.
• Biopsy only if severe or progressive disease.
 Control HTN.

lgA nephropathy Postinfectious glomerulonephritis

• Usually 10-21 days after URI
(postpharyngitic)
• Usual ly within 5 days of URI
• More common in ch ildren age 6-1 0 but
Clinical (synpharyngitic)
can occur in adu lts
presentation • More common in men age 20-30
• Gross hematuria
• Recurrent gross hematuria
• Adults can be asymptomatic or develop
acute nephritic syndrome

• low C3 complement
• Elevated antistreptolysin O &/or anti-
Diagnosis
• Normal serum complements
DINase B
• Mesangial lgA deposits seen in kidney biopsy
• Kidney biopsy with subepithelial humps
consisting of C3 complement

• Usual ly benign

Prognosis
• Possible rapidly progressive • Good prognosis in children
glomerulonephritis or nephrotic syndrome • Possible chronic kidney disease in adults
with worse prognosis

o Poststreptococcal glomerulonephritis:

pg. 263
 Acute poststreptococcal glomerulonephritis
• Several weeks after GAS infection (eg , pharyngitis , impetigo)
Pathophysiology • GBM immune complex deposition
• Complement component C3 & CH 50 accumulation

• Can be asymptomatic
• If symptomatic:
Clinical features o Gross hematuria (tea- or cola-colored urine)
o Edema (periorbita l, generalized)
o Hypertension

• Urinalysis: + protein, + blood, ± RBC casts

• Serum:
Laboratory o t Creatinine
findings o ! C3 & CHso
o Possible ! C4
o Positive streptozyme test•

• Supportive care
• Volume overload: loop diuretics
Management
• Hypertension: f additional antihypertensives
• Refractory cases: hemodialysis

Prognosis • Complete recovery in a few weeks

*Streptozyme tests : antistreptolysin 0 , anti-DNAse B, antihyaluronidase, anti--;iicotinamide adenine dinucleotidase ,

antistreptoki nase.
GAS =group A Streptococcus ; GBM =glomerular basement membrane ; RBC =red blood cell.

Pathophysiology of acute poststreptococcal glomerulonephritis (APSGN)

~ Hematuria & proteinuria,

) GFR, volume overload ,
~ Subepithelial imm une hypertension
complex deposition

Antibody
(lgM or lgG)
Antigen

CH 50 :11: total complement: GBM • glomerular basemen1 mentirane: GFR • glomerular filllation ra te. cu-

Thin basement membrane disease:

• Familial disorder.
• Hematuria without proteinuria.
• Renal biopsy shows a markedly thin basement membrane.

Acute interstitial nephritis:

• History of medication use.

• C/P:
o Rash.
o Eosinophilia.
o Increased serum creatinine.

pg. 264
 • WBC casts.

Renal tubular acidosis:

Renal tubular acidosis

Type (Distal) 2 (IProxlm I) 4

Primary Poo hyd og n ecr .1,ion Poo b' .. rbonat

defect inl 1,nin f8 orption

Urine pM 5 ,5

Serum
Low-norm I L norm I H h
potae11urn

• Genetic di ·ord r n ' dlfOme • - - lru:ctiv ·

• Medication toxicity ll ' uropathy
Cau es 0 : ' • Congeni _I
• A loimm un di d rs in _ciduri )
(eg, SJo r :n syndrom , nal
hyp rplas·.
rh umatoid rthritis)

Urinary tract infections:

Urinary tract infection in infants Urinary tract Infection In children

• Females • Female sex

Risk • Uncircumcised males • Uncircumcised male infants
factors • Vesicoureteral reflux Risk factors • Vesicouretera l reflux, anatomic defects
• Constipation • Dysfunctiona l void ing
• Constipation
Clinical
• Fever

features
• Fussiness, poor feed ing
Clinical
• Dysuria
• Decreased urine output • Fever
features
• Suprapubic pain (cystitis) &/or fla nk/back pain (pyelonephritis)
Laboratory • Pyuria
findings • Bacteriuria Laboratory • Pyu ria
findings • Bacteriuria on urine cu lture
• Antibiotics
Management • Renal ultrasound (iffebrile) • Antibiotic therapy
Management
• ± Voiding cystourethrogram • ± Rena l ultrasound & voiding cystourethrogram

• Diagnosis: midstream clean catch for older children. Straight catheterization for
infants and toddlers in diapers.
o BUN and creatinine.
o Urine dipstick.
o Urinalysis.
o Urine culture  best test.
 Pyuria (>10WBCs/hpf) or bacteruria (>50,000CFU/hpf) confirms the
diagnosis.
o Renal and bladder US if there is no response to antibiotics.
• Treatment:
o Usually treated with third generation cephalosporins.

pg. 265
 For 1-2 weeks in children less than the age of 2 due to increased risk

of complications.
o Pyelonephritis: PO antibiotics, IV if severely sick.
o Follow up: urine culture one week after antibiotic therapy.
o Recurrent or complications  US and VCUG.
 Indications of VCUG:
• Newborns age <1 month.
• Children with >2 episodes of febrile UTI.
• A child with a first febrile UTI with any of the following:
o Renal anomaly on US. (such as hydronephrosis)
o Fever >102.2 and a pathogen other than E. coli.
• Follow up with urinalysis if their initial presentation was hematuria.

Indications for rena l & bladder ultrasound

Infants and children age< 24 months with a first febrile UTI

• Recurrent febrile Ulls in chi lclren of any age
• UT1 in a child of any age with a family history of renal or
urologic disease, hypertension, or poor growt h
• Children who do not respo nd to app(oprlate antib otoc
uea1ment

Vesicoureteral reflux:
Vesicoureteral reflux

Normal Grade I Grade II Grade Il l Grade IV Grade V

Grade Description

I Into a nondilated ureter

II Into the pelvis & calyces without dilation

Mild to moderate dilation of the urete r, renal pelvis & calyces,

Ill
with minimal blunting of the fornices

IV Moderate ureteral tortuosity & dilation of the pelvis & ca lyces

Gross dilation of the ureter, pelvis & calyces; loss of papillary

V
impressions; ureteral tortuosity

pg. 266
 Vesicoureteral 1reflux i n children

Pa~hogenesis • Retrograde flow of urine

Presentation • Febrile urinary tract infection

Diagnostic findings
• Renal ultrasound: hydronephrosis
• Voiding cystourethrogram: ureteral filling ± dilated collecting system

Management
• Antibiotic prophylaxis

• S urgical correction if persiistenl

• Primary VUR from a valve in the ureter.

• Secondary VUR from increased bladder pressure.
• A risk factor for recurrent UTIs  renal scarring. Also, renal insufficiency and end-
stage renal disease.
o Monitor blood pressure and look out for anemia.
o DMSA scan for evaluation of scarring.
o Serial creatinine for renal function.
• Diagnosis by voiding cystourethrogram (VCUG).
• Management:
o Mild to moderate VUR  antibiotic prophylaxis and behavioral modification
(timed voiding).
o Severe VUR  surgical or cystoscopic repair of the junction.
 Daily antibiotic prophylaxis.
Chronic pyelonephritis of the kidney

Scar tissue

Enuresis

pg. 267
 Primary nocturnal enuresis

Definition
• Nighttime urinary incontinence age ~5
• No prior prolonged peniod of overnight dryness

• Delayed maturation o·f bladder control

Pathogenesis • Nocturnal urine output (eg, evening1fluids , t ADH)
• ! Bladder capaci1ty

Rilsk factors
• Family history
• Boys age 5-8

Evaluation
• Urinallysis (to exclude other causes)
• Voiding diary

• Treatment of comorbid cond itions (eg, constipation)

Management
• Behavioral modifications (eg, restrict even ing fluids)
• Enuresis aI1arm
• Desmopressin therapy

• Greatest risk factor: family history.

• Imipramine reserved for those who don’t respond to desmopressin.
• Those who are gonna take desmopression should be advised to decrease water
intake to reduce the risk of hyponatremia.

Nocturnal enu11esis in child11en

Primary Secondary

Definition
• Nighttime incontinence at age .?:5 without prior • Nighttime incontinence at age .?:5 after
prolonged period of continence prolonged period of continence

• Underlying medical! condition {eg, UTI ,

Causes
• Brain maturation delay
diabetes mellitus)
• Genetics (eg, family history) • Psychological stressors

lln iUal
evaluation • Urinalysis • Urina1Iysis

• Reassurance
• Treatment of underlying condition
• Behaviora l modifications (eg, evening fluid
Management
restriction) • Behavioral mod ification as in primary
enuresis
• Bedwetti ng alarm

pg. 268
 Medical conditions causing1enuresis
Etiology Symptoms Findings

Constipation*
• Infrequent & hard stools
• ± Palpalbl!e stool mass
• Encopresis

Bladder dysfi1.1 nction'* • Daytime incontinence • ± Recurrent urinary tract infections

• Weak stream , urgency, straining

Urinary tract i nfection • Dys uria, urgency, frequency • Po,s itwe urin e cu lture,
• Abdominal pain

Chronic kidney disease • Daytime incontinence • Hypertension

• Weig ht loss, fatig ue • Piroteinunia, hematuria

Diabetes mellitus • Polyuria, polydipsia, polyphagia • Glucosuria

• Weight loss, fatigue

Diabetes insipidu s • Polyuria, polydipsia • Low uni ne specific gravity

Obstructive sleep apnea

• Snoring
• Adenotonsillar hypertrophy
• Hyperactivity, inattention

"Often a clinical diagnosis.

• Urinalysis for secondary enuresis to assess for low specific gravity indicating DI and
glucosuria indicating DM. Presence of hematuria or proteinuria indicates chronic
kidney disease.

Fibromuscular dysplasia:

• Males = females in children.

o In adults; females > males 8:1.
• C/P:
o Renal:
 Secondary HTN.
 Abdominal bruit.
 CKD symptoms.
o Cerebroavscular: (carotids)
 Headache, tinnitus, TIA.
 Cervical bruit.
• Diagnosed by duplex US or CT angiography: single or multiple stenoses of the renal
arteries.
• Confirmed by percutaneous transluminal angioplasty after HTN is controlled and
diagnosis is confirmed.

Edema:

pg. 269
 Causes of edema

Primary mechanism Examples

• Heart fai lure

1' Capi llary • Glomerulonephritis, renal failure
hydrostati c pressure
• Venous obstruction (eg, cirrhosis,
venous insufficiency)

• Protein loss (eg , nephrotic syndrome,

,&, Capi llary oncotic protein-losing enteropathy)
pressu re
(hypoalbuminemia) • Decreased albumin synthesis
(eg, cirrhosis, malnutrition)

• Bums, trauma & sepsis

1' Capillary
• Allergic reactions
permeability
• Other systemic inflammatory processes

• Malignancy & related treatment

Lymphatic
• Hypothyroidism
obstruction
• Congenital lymphedema

©UW011d

Neonatal acute kidney injury:

Common causes of neonatal acute lkid ney inju1

ry
• Hypovolemia
Pre renal disease • Cardiiac disease
• Sepsis
• Acute tubu lar necrosis {eg, ischemic injury)
• Nephrotoxins (eg , maternal NSAID use, aminoglycosides)
Intrinsic re nal
• Rena l vascular disease (eg, renal vein thrombosis)
disease
• Glomerular & cystic disease (eg, polycystic kidney disease)
• Congenital! anomalies (eg, re nal agenesis)

Postrenal
• Obstructiive uropathy {eg, posterior urethral valves)
disease

• Normal urine output in a neonate is defined as 1 or more void per day of life.
• Neonates with oliguria work up:
o History and physical examination to evaluate for risk factors and volume
status.
o Renal and bladder US to detect vascular or congenital abnormalities.
• Management:
o Prerenal  IV fluid bolus.

pg. 270
 REPRODUCTIVE

Precocious puberty:

• Development of secondary sexual characteristics before the age of 8 in girls and 9 in

boys.
• Accelerated bone growth and advanced bone age.
• Two categories:
o Central:
 Early activation of hypothalamic-pituitary-ovarian axis.
 High FSH and LH.
 Thelarche  pubarche  menarche.
 Organic causes:
• Hamartomas.
• Hydrocephalus.
• Pinealoma.
• Intracranial infections (e.g. tuberculous meningitis)
o Peripheral:
 Gonadal or adrenal release of excess sex hormones.
• Estrogen producing ovarian tumors.
• Congenital adrenal hyperplasia.
• Leydig cell tumor.
 Low FSH and LH.
• Treatment of central precocious puberty:
o GnRH agonist; to prevent premature epiphyseal closure and maximize adult
height potential.
• Premature thelarche (breast development) is the first sign of precocious puberty.
• Premature adrenarche is because of androgen production.
o No treatment for either disorder if isolated.
o C/P:
 Body odor.
 Oily skin.
 Acne.
 Pubic and axillary hair.
o Bone isn’t affected.
o DHEA-S is elevated in isolated premature adrenarche.
o Risk factor for developing PCOS, type 2 DM, and metabolic syndrome.

pg. 271
 Evaluation of precocious puberty
Early secondary
sexual development*

Advanced Normal
bone age bone age

Low High
basal LH basal LH

GaRH stimoOlioa ,~, ~ Isolated breast Isolated pubic

development hair development

,-'" j "''"'" j j j
Peripheral Central Premature Premature
precocious puberty precocious puberty thelarche adrenarche

•secondary sexual development in gi~s age <8 or boys age <9.

~ UWorld

Obesity & precoclo,us sexual developmen

Adlpocytes
(fat cell•),

Activatton of
hypothalamus-
pituila.11)'·
Adrenal I
gonedal 1uas;
I
ndrogen
pr~IJ~ if' Lut 1n 1~1n pulsaht
hormone GnRH re1 ·
+ Fo11icie-
stimulaling
Peripl'ler,al Peripheral hormone Central
activation of ,activation of activation or
adrenarch th larch puberty

OIIWUW<lnd, u.c

Gynecomastia:

pg. 272
 Common pathological causes of gynecomastia

• Teslicular, adr,enal, or huma n chorionic

gonadotropin crellng tumors
• Cirrhosis or malnulrition
Increased estrogen
production or • Thyrotoxlco i
periphera l • Congeni tal excessive aromatase cUv,ty
conversilon
• Androgen use
• Drugs {og, pironolacton , cimelidino),
herbal produc ( , toe lro oi l, lavender oil)

• Primory or socondery mole t1ypog:om1dism

Androgen (9 , KlinoloU r syndrome, t9Slicul rd mago)
defi ciency • Hyperprolactinemi
• Renal failure
euwo<ld

Pubertal gynecomastia

Etiology • Imbalance of estrogens & androgens during mid-puberty (Ta nner stage 3-4)

• Small ( <4 cm), firm, unilateral or bilateral subareolar mass

Clinical
• No pathologic features (eg , nipple discharge, axillary lymphadenopathy, systemic
featu res
illness)

• Reassurance & observation

Management
• Resolves within 1 year

Amenorrhea:

• Primary amenorrhea:
o Isolated amenorrhea with well-developed secondary sexual characteristics is
normal until the age of 16.
o Absence of secondary sexual characteristics with amenorrhea requires
investigation.
Evaluation of primary amenorrhea

Pelvic examination
or ultrasonogram

I
l
Uterus present
l
Uterus absent

l
Serum FSH
l
Karyotype

I
Increased
\
Decreased I
serum testosterone

\
!
Karyotyping
!
Cranial MRI
46,XX
Normal female
testosterone
levels
46,XY
Normal male
testosterone
levels

l
Abnormal Mullerian Androgen
l
development insensitivity syndrome
\ISMll'Wtlrid,lLC. C) 2011

• Secondary amenorrhea:
o Causes:

pg. 273
  Nutritional deficiency: suppression of the HPO axis resulting in low
FSH, LH, and estrogen, hypothalamic amenorrhea and anovulatory
infertility.
• Increased risk of osteoporosis and stress fractures.

Disorders of sexual development:

Disor-d!ers of sexual development

AxiUary
Breast Rep11oductive
Di~gnosis Cause & 1pubjc K.aryotype
d..velopment organs
hair

Absent uterus
Complete
X-li11'ked mutation & upper Minimal
androgen
insensitivity
ofalldro en Yes \lagina; to 46,XY
syndrome
receptor cryptorchid absent
testes

Mullerian
agenesis Absent or
rudimenta ry
{Mayer- Hypopla ic or
uterus &
· okitansky- absent mOllerian Yes upper vagina: Norn 46,XX
K st.er- duota'I system
nomal
Hauser ovanes
syndrome)

Nonnal
uterus,
Transverse Malformation of
vaginal abnormal
uro ,en il:all sinus Yes
vagina;
Norn 46,XX
septum, & MUl lel'lian ducts
normal
ovanes

Variabe
Comp'rete/partial Normal ute s
Turner •~depending
syndro·me absence of 1 on ovana
& vagina; Norn 4 5,X
Xcllm osome streak ova ,ies
ftmctuon)
O UW'ollld

• Androgen Insensitivity syndrome:

o 46 XY, but defective androgen receptors.
o Cryptorchid gonads have a risk of developing dysgerminoma or
gonadoblastoma. However, benefits of undergoing gonad stimulated puberty
outweighs risk of malignancy. Therefore, gonadectomy performed after
puberty.
• Mullerian agenesis:
o Uterus, cervix, and upper third of the vagina are atretic.
o Asymptomatic until puberty when they present with primary amenorrhea.
o Development of secondary sexual characteristics is normal because gonads
are functional.
o Treatment: uterine transplantation and vaginoplasty.
• Turner syndrome:

pg. 274
 o 45 XO.
o C/P:
 Webbed neck.
 Cystic hygroma  lymphatic nonpitting edema.
 Square shaped chest.
 Cubitus valgus.
 Short stature.
• Not due to GH deficiency. GH levels are normal in Turner.
 Delayed puberty.
 Primary amenorrhea.
 Bicuspid aortic valve.
 Coarctation of the aorta.
 Horse-shoe kidney.
 Pelvic US: streak ovaries  primary ovarian failure.
• No estrogen  osteoporosis.
o Diagnosis by karyotyping.
o Treatment:
 Growth hormone.
 Estrogen.

Turner syndrome

Coarctation
of aorta

Congenltal lymphedem.i

BicuspiO
aortic valve

Horseshoe kidney

Streak ovaries,
amenorrhea
& infenility

Kallmann syndrome:

• X-linked recessive.
• Failure of migration of fetal GnRH and olfactory neurons resulting in
hypogonadotropic hypogonadism and rhinencephalon hypoplasia.
• Normal genotype and internal reproductive organs.
• C/P:
o Short stature.
o Delayed or absent puberty.
o ANOSMIA/HYPOSMIA.

pg. 275
 • Labs: Low FSH and LH.
• Treatment: hormonal therapy.
Kallmann syndrome
Male Female

Klinefelter syndrome:

• 47 XXY.
• C/P:
o Primary hypogonadism: small testes, infertility, and gynecomastia.
 Due to seminiferous tubule dysgenesis, azoospermia, hypogonadism,
and elevated LH and FSH.

Klinefelter syndrome (47,XXY)

Spa,sef.....t>oOy"""

Klinefelter syndrome

Nondisjunction of the sex chromosomes ,

Pathogenesis
resulting in a 47 ,XXV male

• Primary hypogonadism
Clinical • Increased long bone length
features • Gynecomastia
• Leaming & socialization difficulties

Laboratory
• I Testosterone
findings
• t LH & FSH (due to loss of feedback inhibition)
• t Estradiol
OUWorld

pg. 276
Vulvovaginitis:

• MCC of vulvovaginitis in prepubertal children is vaginal foreign bodies.

o Toilet paper is the most common vaginal foreign body.
• C/P:
o Foul-smelling vaginal discharge.
o Vaginal bleeding or spotting.
o Urinary complaints.
• Treatment:
o General anesthesia.
o Small foreign bodies: calcium alginate swab or irrigation with warmed fluid.
o Large foreign bodies: bimanual examination might be necessary.

Vaginal foreign bodies

• Prepubertal g1irl s
• Vaginal spatting
Clinical features • Ma lodorous vag inal discharg:e
• No sig ns of tra uma (eg, lacerations)
• Toilet paper most common object

!Management
• Warm irrigation
• Vaginoscopy under sedation/anesthesia

Labial adhesions:

• Thin fused labia minora.

• Due to low estrogen production and inflammation from poor hygiene, infection, or
trauma.
• Can be partial or complete.
• C/P:
o Partial  asymptomatic.
o Vaginal pain or pulling.
o Covering the urethral meatus  abnormal urinary stream and an increased
risk for UTI.
• Treatment:
o Mild asymptomatic  no treatment.
o Complete or symptomatic  topical estrogen.

pg. 277
 Normal Labial adhesion

Prepubertal vaginal bleeding:

• MCC vaginal bleeding and discharge in the neonatal period is maternal withdrawal of
estrogen.
o In the first 2 weeks of life.
o Reassuring parents.

Prepubertal vaginal bleeding

Cause Key features

• Presents in neonatal period

Withdrawal of
• Lasts <1 week
estrogen
• Examination otherwise normal

• Usually unintentional from fall

• Can be sign of sexual abuse
Trauma
• Genital examination may show
laceration/abrasion

• Rare
Malignancy (eg,
• Presents age <3
rhabdomyosarcoma)
• May visualize protruding vaginal nodules
~ UWorld

Rhabdomyosarcoma (sarcoma butyroides):

• C/P:
o Nodules resembling grapes protruding from the vagina.
o Painful/painless mass.
o Displacement/destruction of normal tissue.
• Diagnosis:
o Biopsy.
o CT or MRI.
• Treatment:
o Surgery.
o Chemotherapy.
o Radiation.

pg. 278
Anovulatory cycles:

• C/P:
o Oligomenorrha and low progesterone levels.
• Absence of ovulation and a luteal phase; due to immaturity of the HPG axis.
• Other causes:
o PCOS.
o Hyperprolactinemia.
o Premature ovarian failure.
o Hyperthyroidism.
o Obesity.
o Anorexia.
o Stress.

Cryptorchidism:

Cryptorchidism
. Prematurity
• Small for gestational age
.
Risk fa cto,r s . Low birth weight (<2.5 kg)
In utero exposure to
diethylstilbestrol & pesticides
• Genetic disorders
. Neural tube defects

Clinical
. Empty, hypoplastic, poorly
rugated scrotum or hemiscrotum
features
• +/- Inguinal fullness

T reatment • Orchiopexy before age 1 year

. Inguinal hernia
• Testicular to rsion
Comp I ications
• Subfertility
• Testicular cancer
© USMLEWorld. LLC

• Testicles that have not descended by age 6 months are unlikely to descend
spontaneously and require surgery.
• Orchiopexy before the age of 1 year.
o Eliminates the risk of testicular torsion.
o Other complications might still take place.

Hydrocele:

• Fluid collection in the processus or tunica vaginalis.

• Communicating  processus vaginalis fails to obliterate, peritoneal fluid will
accumulate.
• Noncommunication  collection in tunica which has completely obliterated
communication with peritoneum.
• Diagnosis:

pg. 279
 o Transillumination.
• Most will resolve in 1 year.
o If not  surgery due to increased risk of indirect inguinal hernia.
o Aspiration is not recommended due to risk of infection and damage to nearby
structures.

Noncommunicating Communicating
Normal anatomy
hydrocele hydrocele

Patent
Ductus Abdominal
_,,,,,- cavity processus
deferens vaginal is
Closed

Scrotum_........

va ginalis

Varicocele:

• Abnormal enlargement and tortuosity of the pampiniform plexus in the scrotum due
to proximal obstruction of the spermatic vein.
• C/P:
o Painless enlargement may be present.
o Bag of worms on physical exam.
o Symptoms worsen with Valsalva.
o Negative transillumination.
• Diagnosis:
o Ultrasound.
• Complications:
o Infertility.
• Treatment:
o Conservative.
o Invasive: Laparoscopic varicocelectomy.
 Painful.
 Infertile men.
 Significant difference in size of testes.
 Adolescents with testicular atrophy.
 Undescended or absent contralateral testis.

Testicular torsion:

• MCC testicular pain over 12 years old.

• C/P:
o Acute pain and swelling.
o Tender.

pg. 280
 o Absent cremasteric.
o Negative prehn sign. (vs epididymitis).
• Diagnosis by doppler ultrasound.
o Only if uncertain.
• Emergent surgery  bilateral orchiopexy.
o Fix both testes in place.

Torsion of appendix testes:

• MCC testicular pain between 2-11 years of age.

• C/P:
o Gradual.
o Tender mass at the upper pole of testes.
• Diagnosis:
o Blue dot on scrotal skin.
o Ultrasound.
• Resolves spontaneously.

Testicular tumor:

• Palpable hard mass that does not transilluminate.

• 65% malignant.
• Diagnosis by US. Check serum AFP and beta-HCG.
• Treatment: radical orchiectomy.

pg. 281
 RESPIRATORY

Diagnostic pulmonary tests:

Dia,g nostic pulmonary tests

Test Indications Disadvantages

Gold standard in evaluating

May be difficult lo perform in
Spi1
rom etry pulmonary function (eg, FVC, forced
unstable patients
expiratory volume in 1 second)
I
Peak flow Assessmen of airflow out of the
Less accurate than spirometry
meter lungs (peak •e~piratory flow rate),

First-line imaging of tracheal Insensitive for small tumors &

Chest
position, lung fields, bones & heart pulmonary embolus; no
x-r.ay size with rel alively low radiation
1
informaUon about lung function

Rapid & detaned visualization of Signmcanl radiation ,exposure;

Chest CT tracheal position, l ung fields, bones no information about l ung
& heart size function

Inaccurate if the extremity is

Pu lse Rapid assessment of oxygena.tion at
col'd, caHoused, or moving;
oximeter fingertip, earlobe, or foot ,(infant)
cannot assess ventilation

Quantitative measurement of arterial

Arterial Slight risk of b1eeding, infection
pH, oxygenlcarbon dioxide/
blood gas & rad ia'I artery thrombosis
bicarbonate levels & base deficit
©U'SMI.EWorld, llC

Laryngomalacia:

• MCC of stridor.

laryngomalacia

P tlilophyslology • Increased laxity of supraglotlic structures

Clinical • lnsp1rato1Y stndor wo ens wh en supine

presentation • Peaks at .age 4-8 months

• Usu lty chrnca l

D agnosls • Confirmation by llexible laiyngoscopy to
mod rate/severe cases

• Aeassu nee for most cases

Management
• Supr glottoplasty for severe symptoms

Cl IJIIWldd•

pg. 282
 • Omega-shaped epiglottis and collapse of the supraglottic structures during
inspiration.
• Spontaneously resolves by the age of 18 months.
• Complications:
o Gastroesophageal reflux.
 Antireflux treatment improves breathing for unknown reasons.

Laryngomalacia

Start of inspiration Mid-i nspiration

Collapsed
arytenoids

lntrolaryngeal
Thoracic "Floppy" t
C3Ylly
expands
0 larynx
collapses
0

~- Causes of stridor in infants & toddlers

Acute

Croup
• Paraiinfluenza virus , most cases in fall/winter
• lnspi1ratory or biphasiic stridor, "'barky" cough, infectious symptoms

• ± Choking1episode
Fo1reign body aspiration
• lnspiratory strider &/or wheeze, focally diminished breath sounds

Chroniic

• "Floppy" supraglottis , prominent age 4-8 months

Laryngomala.c ia
• lnspi1ratory strider worsens when feeding, cry1
i ng, or supine ; improves when prone

Vascular ring
• Great vessel!s encircl!e & compress trachea
• Biphasic strider that iim proves with neck extension

Airway hemangioma
• Hemangiomas enlarge iin the first few weeks of life
• Worsening biphasic strider, concurrent skin hemangiomas ("beard distribution")

Congenital subglottic stenosis:

pg. 283
 • Can be acquired after endotracheal intubation.
• Is not affected by position.
• Recurrent/persistent croup.
• Second MCC of stridor.
• Diagnosis: x-ray and laryngoscopy.
• Treatment: surgery.

Vocal cord paralysis:

• Acquired from surgery either neck or chest.

• Can be congenital.
• Associations: meningomyelocele, chiari malformation, hydrocephalus.
• Presentation: unilateral or bilateral.
• Diagnosis: flexible bronchoscopy. Resolves spontaneously in 6-12 months.

Cystic fibrosis:

• CFTR gene mutation; autosomal recessive.

• C/P:
o Recurrent sinopulmonary infections  opacification of all sinuses by 8
months.
o Loose stools.
o Clubbing. (indicates bronchiectasis)
o Sensorineural hearing loss due to frequent aminoglycoside use.
• Defective muco-ciliary clearance leading to recurrent sinopulmonary infections.
o In children  staphylococcus aureus.
 Give empirical anti-staphylococcal and consider MRSA due to
recurrent hospitalizations; in that case  IV Vancomycin.
o In adults  pseudomonas aeruginosa.
 Amikacin, ceftazidime, and ciprofloxacin are appropriate for empirical
treatment of Pseudomonas aeruginosa.
o Give antibiotics that covers both  fourth generation cephalosporins (i.e.
cefepime) and vancomycin.
• Complications:
o Bronchiectasis; in the upper lobes is characteristic of CF-induced
bronchiectasis.
o Chronic hypoxia.
o Respiratory failure.
• Treatment:
o Azithromycin has shown to slow lung function decline.
o Hypertonic saline to facilitate mucus clearing.
o Lumacaftor or ivacaftor.

pg. 284
 Cystic fibrosis

Pathogenesis
• Mutation (~F508) of CFTR gene
• Autosomal recessive

• Recurrent sinopulmonary infections

Clinical features
• Intestinal obstruction (eg, meconium ileus)
• Pancreatic insufficiency & diabetes
• Male infertility

• Elevated sweat chloride levels

Diagnosis • CFTR mutation on genetic testing
• Abnormal nasal potentia l difference

• Nutritional support
Management • Airway clearance
• Antibiotic coverage (staphylococcus aureus, Pseudomonas aeruginosa)

CFTR = cystic fibrosis tr,msmembrane conductance regulator.

Oigit.11 r::t,lib i11ij

Features of primary ciliary dyskinesia

Mutations in cilliary dynein arms lead to absent

Pathophysiology
or dysmotile ci lia & poor muoociliary clearance

Clinical
.. Recurrent sinopulmonary infections
Bronchiectasis
manifestations
• +/. Situs inversus (Kartagener syndrome)

• Low nasal nil.ric oxide levels

• Bronchoscopy & electron microscopic
Diagnosis
visualization of ci liary abnormalities
• Genetic testing
IP"t l lw.-lA

pg. 285
 nm,ny c1 1ary ys 1nes1a -ersus cys re I ros1s

Primary clllary dysklneslia Cystic fibrosis

• Chronic sino pulmona ry • Chronic sinopulmonery

inreclions infections
Resp iratory
• Nasal polyps • Nasal polyps
tract teat,ures
• Bronchiecb.1sis • Bronchieclosis
• Di ilel Clubbing • Digillll Club bing

• Situ lnversu -
• P n ro lie in 1.JI 1cioncy
(50% of ca es)
Extrapulmonary • lnferti!ily due lo absent vas
• In! rtihty du !O i mmol.il
features def. rens (azoospermi )
porrnalozoa
• mlurn lo thrive
• Nonn I growth
C UWono

Bronchiolitis:

Bro:n chlolitls

• Age <2 yeors

Epidemiology
• RSV most oommon couse

• Ant~eden t n sal congestionldisch rge & cough

Cllnlca ll
presentation • Wh zing/crackle & r piratory di tr s
(eg, lachypne , retractions, n sal flaring)

Treatment Supportive care

P81iv1zumeo for infants with Ifie following conditions:

Prevention • Prat nn bir1h <2 waak g st t1on
• Chrome lung disease of pramatunty
• Homodynamically significa nl cong nilal hOart disoo a

• Apnea (especially Infants ge <2 months)

Compllcatlona
• Respirotoiy fa ilu re

RSV = re,pimtory syneyl1>I .,rus.

OIMlorld

• Clinical diagnosis.
• Associated with otitis media as well.
• Supportive:
o ABC.
 Two liters of oxygen; nasal cannula. Why? Desaturation.
• Maintain between 94 and 99 SpO2.
o 92 and 93 accepted during sleep.
• Dr Amr: you can give a trial of bronchodilators or steroids or
adrenaline. Whatever suits the baby. ((not supported by
guidelines))

Pneumonia:

• Inflammation of the lung parenchyma.

• Etiology:
o Viral predominant in children <5 years old.
o Most common pathogen is RSV.

pg. 286
 o Infective organisms: M. pneumonia, C. pneumonia.
o S. pneumonia common with focal infiltrate.
• C/P;
o Viral: insidious onset, low grade fever.
 Scattered crackles and wheezes.
o Bacterial: sudden shaking chills and high fever.
 Decreased breath sounds and dullness to percussion.
o Chlamydia trachomatis: staccato cough and eosinophilia.
o Chlamydia and Mycoplasma pneumonia:
 Interstitial pneumonia at the base.
 PCR for mycoplasma.
• Treatment: inpatient  ampicillin and ceftriaxone.
o Viral  withhold treatment.
o Chlamydia and mycoplasma: erythromycin.

Viral Bacterial

Temperature i liT
URI ++ -
Toxicity + +++

Rales Scattered Localized

WBC Normal to L liT

Chlamydia-eosinophilia
CXR Streaky, patchy Lobar
Hyperinflation
Diagnosis NP wash , PCR Blood cu lture , transtrachea l
aspirate (rare)
Mycoplasma-lgM, PCR

Foreign body aspiration:

• Location:
o Larynx for children <1 year.
o Right mainstem bronchus for children >1 year.
• Best initial test  CXR.
o 30% of the time its normal.
• Bronchoscopy is diagnostic and therapeutic.
• Wheezing in asthmatic patients responds to albuterol.

Foreign body aspiration

• Sudden-onset oough, dyspnea

Clinical
• Cyanosis
featu re s
• ± History of choking episode
Examination • Wheezing &/or stridor
find ings • Focal area of diminished breath sounds

• Hyperinflation of affected side

• Mediastinal shift toward unaffected side
X-ray find ings
• Atelectasis if obstruction is complete
• ± Foreign body
Management • Rigid bronchoscopy

pg. 287
Obstructive sleep apnea:
Pediatric obstructive sleep apnea

Pathophysiology • Adenotonsillar hypertrophy

• Night symptoms
o Loud snori ng, pauses in breathing, gasping
o E nuresis, parasomnias (eg , sleepwa lking, sleep tenrors)
Clinical manifestations • Day symptoms
o lnappropri,ate naps or falling as leep during school
o Irritab ility, inattention, learning prob lems, behavioral problems
o Mouth breathing, nasal speech

• Poor growth (ie, fai lure to thrive)

Compllcatlons • Poor school perlorma nce
• Cardiopu lmonary (eg , hypertension, structural heart cha nges)

Management • Tonsillectomy & adenoidectomy

Allergic rhinitis:

Allergic rhinitis

• Rhinorrhea , nasal congestion , sneezing, nasal itching

• Cough secondary to postnasal drip
Symptoms
• Fatigue, irritability
• Ocu lar itching & tearing

• "Allergic sh iners" (infraorbital edema & darkening)

• Dennie-Morgan lines (prominent lines on lower eye lids)
Physical • "Allergic salute" (transverse nasal crease)
examination • Pale, bluish , en larged turb inates
• Pharyngeal cobblestoning
• "Allergic facies" (high-arched palate, open-mouth breathing)

Treatment
. Intranasal corticosteroid
• Allergen avoidance

• Hypertrophic inferior turbinates.

• Diagnosis is clinical. RAST can be done but incorrect, only done with refractory.
• Treatment: avoidance of the trigger. Intranasal steroids. H1 and H2 blockers or
steroids can be used.
• Complications: chronic sinusitis, asthma, eustachian obstruction and adenoid
hypertrophy.

Asthma:

• Pathology:
o Bronchoconstriction and inflammation.
o Obstructive lung disease (OLD).
 Before the age of 18: asthma.
 Between 18 and 65: athletic asthma.
 Above 65: COPD.
 IgE-mast cell mediated.
• Clinical presentation:

pg. 288
 o Wheezing from bronchoconstriction.
o Shortness of breath.
o Cough.
o Worsens at night.
o Atopy: eczema, seasonal allergies, and food.
 Response to triggers.
o Ominous signs:
 Decreased lung sounds.
 Hyperresonance.
• Diagnosis:
o ABG shows respiratory alkalosis.
o Pulmonary function test:
 Decreased FEV1 to FVC ratio.
 Reversible by B agonist.
 Inducible with ach agonists.
o DLCO normal or increased. (vs decreased in COPD).

Flow (L /sec)
8

C:
D
~ 4
·a.
X
LU

C:
.Q
'§ 4
·a.
-="'

8 6 4 2 0

Lung volume (L)

(OUWortd

• Algorithm:
o Do a PFT:
 If normal  methacholine challenge.
• If positive  asthma.
 If OLD  bronchodilator (albuterol) response.
• If positive (>12% increase in FEV1)  asthma.
• Treatment:
o Bronchodilators:
 SABA.
 LABA.
• ADRS:
o Hypokalemia: muscle weakness, arrhythmias, and
ECG changes.
o Tremor.
o Headache.
o Palpitations.
o Anti-inflammatory:
 Inhaled corticosteroids.
• ADRS:

pg. 289
 Oral thrush is the most common.
o
Leukocytosis due to mobilization of marginated
o
neutrophils, stimulation of release of immature
neutrophils from the bone marrow, and inhibition of
neutrophil apoptosis.
o Decreased lymphocytes and eosinophils.
 Leukotriene antagonists.
• Used interchangeably.
 Oral corticosteroids.
o Mast stabilizers:
 Nedocromil.
 Cromolyn.
o Severity of asthma:

Asthma severity for patients not on ,controller medication

Symiptom frequency/
Asthma severity Nighttime awa ken ings Indicated thera1p y init.iation
SABA use

Intermittent ~2 days a week ~2 times a month Step 1

Mild pers istent >2 days a week but not daily 3-4 limes a month Step 2

Moderate persistent Da ily >1 time a week but not nightly Step 3

Severe persistent Th roughout the day 4-7 limes a week Step 4 or 5

Intermittent !Persistent asthma: daily medication

asthma

Step 6

Step5 l-l igh-dose ICS

+ LABA + oral
Step4 High-close corticosteroid
ICS + LABA
Step3 Medium- AIND
dose ICS AND
Step2 Low-close +LABA Consider
ICS + LABA Consider omalizumab
Step 1 Low-dose IC S omalizumab fo r pa11ents
OR for patients with allergies
SABAPRN with allergies
Medium•
dose ICS

Step down if possible Assess control Step up if needed

(or seve rity in patients
not ,on controller medication)

ICS • inhaled corticosteroid ; LABA • loniracfing beta-agonist: SABA • short.,,cfing bela-agonist; PRN • s needed

 SABA for step 1 is no longer recommended. LABA -ICS is used as

needed for step 1.
 FEV1: intermittent (80%), mild (80%), moderate (60-80%), and severe
(60%).
 Theophylline: PDE inhibitor that causes bronchodilation. Use as an
alternative to step 3.
• Theophylline toxicity:

pg. 290
 o CNS: headache, insomnia, and seizures.
o GI: nausea and vomiting.
o CVS: arrhythmia.
Refractory:

• Chronic oral steroids.
 If someone comes in with need of more medications:
• Observe how they use inhaler.
• Use of spacer.
• Medication adherence.
 BIPAP can be used for moderate to asthma exacerbations.
 Exercise-induced bronchoconstriction: short-acting beta-adrenergic
agonists such as albuterol, used 10-20 minutes prior to exercise.
• High performance athletes: albuterol plus antileukotriene
agent.
• Inhaled steroids can be used for those who exercise daily and
require pre-treatment with albuterol.
• Montelukast can be used as an alternative to the daily steroids.
• Asthma exacerbation: limit daily activity
1. Give them oxygen  make sure spO2 is above 90%.
2. Nebulizers: ipratropium and albuterol.
3. IV steroids.
4. You can try racemic epinephrine, subcutaneous epinephrine, and
magnesium.
5. Assess PEF rate.
a. Gets better  go home.
i. No oxygen requirement.
ii. No wheeze.
iii. PEF >70%.
b. Needs more time  ward.
i. Needs nebulizers.
1. And they’ll transition to MDI.
ii. IV steroids.
1. And they’ll transition to oral prednisone.
c. Gets worse  ICU; intubate.
i. Marked hypoxia with cyanosis
ii. Rising CO2.
iii. Markedly decreased breath sounds.
iv. Absent wheezing.
v. Decreased mental status.
vi. PEF< <50%.

Respiratory failure in asthma

• Extreme fatigue
• Altered mental status
Clinical
• Absent/minimal wheezing (poor air entry)
features
• Cyanosis
• Chest wall retractions

Laboratory
findings .. PaO 2 & pH (resp iratory acidosis)
pco,
e uwodd

• Respiratory failure  endotracheal intubation and mechanical ventilation.

• Normally in an asthma exacerbation: respiratory alkalosis.
o Normal pH and normal or high PaCO2 indicates respiratory muscle fatigue
and impending respiratory failure.

pg. 291
Spontaneous pneumomediastinum:

Spontaneous pn aumomediastinum Pneumomediastinum & pneumopericardium

• Asthma exacerbation
Risk factors • Respiratory infection
• Tall, thin, adolescent boy

Clinical features .
• Acute chest pain, shortness of breath, cough
Subcutaneous emphysema
• Hamman sign (crunching sound over heart)

Diagnosis • Mediastinal gas on chest x-ray

• Rest , analgesics
Treatment
• Avoid Valsalva maneuvers

• High intraalveolar pressure due to severe coughing paroxysms can cause air to leak
from the chest wall into the subcutaneous tissue.

pg. 292
 MULTISYSTEM

Sudden Infant Death Syndrome (SIDS):

Sudden infant death syndrome

Risk factors Prevention

• Smoking during or after pregnancy • Smoke avoidance during

Maternal • Maternal age <20 & after pregnancy
factors • Inconsistent prenatal care • Routine prenatal care

• Prone/side sleep position • Supine sleep position

• Soft sleep surface, loose bedding • Firm sleep surface
Infant • Bed-sharing • Room-sharing
factors • Prematurity • Pacifier use
• Sibling with SIDS

SIDS - sudden infant death syndrome.

© UWo~d

• Child dies for no reason, based on scene and autopsy.

• Not a diagnosis.
• Prevent SIDS:
o Back to sleep; lay infant on back. May flatten the occiput.
o Don’t share a bed.
o SMOKING CESSATION.
• Premature and congenital defect babies have a higher risk.

Breath-holding spells:

Breath-holding spells
• Family history
Risk factors • Iron deficiency anemia
• Age 6 mon~hs to 2 years

• Cyanotic subtype (most common)

o Provoked by crying (eg, tantrum)
o Episode of breath-h old ing , cya nosis --, LDC
o Rapid return to baseline
Clin ical features
• Pall id subt,1Pe II
o Provoked by minor injury (no crying)
o Episode of breath-holding, pallor/diaphoresis LDC
o ± Brief confus ion/sleepiness after episode

• Clinical diagnosis
Evaluation
• Complete bllood count & ferritin

• Reassurance
Treatment/progn osis • Iron supplementation if deficient
• Reso lution by age 5 with no sequelae
~
--

pg. 293
 Breath-holding spell (BHS) vs sei.zure
Cyanotic BHS Pallid BHS Seizure

• Age 6 months to 2 years
Epidemiology
• t Risk with iron deficiency anemia
• Any age
• i Risk with history of febrile
seizure or developmenta l delay

• Minor trauma • Often unprovoked

Triggers • Crying/frustration
• Pain or fea r • Sleep deprivation

• Bradycardia, apnea &

• Apnea &
pallor -> LOC • LOC -, ton ic-clonic movements
Clinical cya nosis -, LOC
• ± Brief (<5 min) • Prolonged (>5 min) postictal
features • Rapid return to
confusion or confusion
baseline
sleepiness

• Clinical diagnosis.
• Recurrent BHS  ECG to check for arrhythmias and Echo for structural heart
defects.

ALTE BRUE

• ALTE: apparent life-threatening events. ((NO LONGER RELIABLE))

o Concerned parent or caregiver, due to change in color, tone or breathing of
an infant.
o History is the most important step, sometimes physical exam.
o 50% not significant.
 GERD.
 Lower airway infection.
 Seizure.
o Significant:
 Sepsis.
 Heart disease.
 Abuse.
o On history:
 Seizure: abnormal eye movements and jerking.
 Septic: fevers or change in the temperature (hypothermia).
• Hypothermia: J waves on ECG (Osborn wave).
 CVS: failure to thrive, difficulty eating, or murmur.
 Abuse: multiple injuries.
o Don’t do testing, unnecessary.
• BRUE: brief resolved unexplained event.
o Criteria:
 Infant must be less than 1 year old.
 Less than 1 minute.
 Change in color, tone, breathing or responsiveness.
o Low risk:
 No worrisome history or physical exam findings.
 No CPR required.
 Has to be there first time.
 Term baby more than 60 days old.
 Preterm baby: a gestational age greater than 32 weeks and post
conception age more than 45 weeks.
 DO NOTHING. Just reassure.

pg. 294
 o High risk:
 Anything that isn’t low risk.
 Monitor and investigate.

BIOCHEMISTRY:

Lesch-Nyhan Syndrome:

• X-linked recessive deficiency in HGPRT.

• C/P: presents at 6 months.
o Hyperuricemia.
o Gout.
o Pissed off (aggression and self-mutilation).
o Retardation.
o Dystonia.
• Treatment:
o Allopurinol.
o Adequate fluid intake.

Lesch-Nyhan syndrome

• X-linked recessive
Pathophysiology • Deficiency of hypoxanthine-guanine phosphoribosyltransferase
• Hypoxanthine & uric acid accumu lation

• Delayed milestones & hypotonia in infancy

• Early childhood
0 Intellectual disabi lity
Clinical features o Extrapyramidal symptoms (eg, dystonia, chorea)
o Pyramidal symptoms (eg, spasticity, hyperreflexia)
o Self-mutilation
• Gouty arth ritis in late, untreated disease

Adrenoleukodystrophy:

• X-linked mutation affecting peroxisomal ATP-binding cassette transporter protein due

to a mutation in the ABCD1 gene.
• Mutation leads to accumulation of VLCFA in adrenal glands, testes and white matter,
and subsequent nerve demyelination.
• C/P:
o Adrenal insufficiency; hypersegmented skin, nausea, vomiting and
hypotension.
• Diagnosis:
o VLCFA panel or mutation analysis.
• Treatment:
o Address adrenal insufficiency with steroids.

pg. 295
Homocystinuria vs Marfan syndrome: (marfanoid body habitus)

Differential diagnosis of Marfanoid body habitus

Diagnosis Overlapping features Distinguishing features

• Autosomal dominant
Marfan • Normal intellect
• Pectus deformity
syndrome • Aortic root dilation
• Tall stature
• Upward lens dislocation
0 t Arm : height ratio
0 I Upper : lower
• Autosomal recessive
segment ratio
• Intellectual disability
• Arachnodactyly
• Thrombosis
• Joint hyper1axity
Homocystinuria • Downward lens
• Skin hyperelasticity
dislocation
• Scoliosis
• Megaloblastic anemia
• Fair complexion

Clliin ical features of Marfan syndrome

• Arachnodactyly
Skeletal • i Upper-to-lower body segment ratio, t arm-to-height ratio
• Pectus deformity, scoliosis, or kyphosis
• Joint hypermobil ity

Ocular • Ectopia lent is

• Aortic dil ation, regurgitation, or dissection

Cardiovascular
• Mitral valve prolapse

Pulmonary • Spontaneous pneumothorax from apical blebs

• Recu rrent or in cisional hernia

Skin
• Skin striae

• Marfan  autosomal dominant mutation affecting fibrillin-1.

o Arachnodactyly: positive thumb sign.
o Lens dislocation (ecoptia lentis), iridodonesis (a rapid contraction and dilation
of the iris), and myopia (from elongation of the globe) are also typical.
o Close monitoring for aneurysms and aortic arch dissection.
o First degree relatives should undergo genetic testing.
• Homocystinura  autosomal recessive affecting cystathionine synthase.
o Addition of sodium nitroprusside will turn an affected patient’s urine a deep
red color confirming homocysteine.
o Treatment: vitamin B6, B9, and B12 plus anticoagulants/antiplatelets.

pg. 296
 '"""'"'""'"' \( ""''""'"'
Betain e- hom ocyste ine
MTHFR

T methyltransfe rase

5-methyl ) \ , .
tetrahydrofolate HomolcySleine

CBS + B6

Cystathionine

Cysteine

Congenital contractural arachnodactyly:

• Autosomal dominant mutation affecting the fibrillin-2 gene.

• C/P:
o Tall stature.
o Arachnodactyly.
o Multiple contractures of the large joints.

Prader-Willi syndrome:

Prader-Willi syndrome

• Hypotonia
• Weak suck/feeding problems in infancy
• Hyperphagia/obesity
• Short stature
Clin ical features • Hypogonadism
• Intellectual disability
• Dysmorphic facies
• Narrow forehead
• Almond-shaped eyes
• Downtumed mouth

Diagnosis • Deletions on paternal 15q 11-q 13

• Sleep apnea (70%)

Complications • Type 2 diabetes mellitus (25%)
• Gastric distension/rupture
• Death by choking (8%)
© USMLEWorld, LlC

• Maternal uniparental disomy; deletion of paternal copy.

• Treatment
o Growth hormone and testosterone for the management of obesity, GH
deficiency, and hypogonadism.

Angelman syndrome:

pg. 297
 • Paternal uniparental disomy.
o Microdeletion of maternal 15q11-q13.
• C/P:
o Same as prader-willi.
o Mental retardation.
o Frequent smiling and laughter.
o Fascination with water.
o Hand flapping.
o Ataxia.
o Seizures.

Muscular dystrophies:

Muscular dystrophies

Diagnosis Duchenne Becker Classic myotonic

• X-linked recessive • Autosomal dominant

Genetics
• Deletion of dystrophin gene • Trinucleotide repeat in DMPK gene

Onset • Age 2-3 • Age 5-15 • Age 12-30

• Progressive weakness • Facial weakness

Clinical • Milder weakness compared
• Gowers sign • Grip myotonia (hand)
presentation with that in Duchenne
• Calf pseudohypertrophy • Dysphagia

• Arrhythmias
Associated • Cardiomyopathy • Cataracts
• Cardiomyopathy
findings • Scoliosis • Excessive daytime sleepiness
• Testicular atrophy

• Wheelchair-dependent by
adolescence • Death at age 40-50 from • Death from respiratory or heart failure
Prognosis
• Death at age 20-30 from heart failure depending on age of onset
respiratory or heart failure

• Duchenne:
o Frameshift mutation  complete absence of dystrophin gene.
o Gower sign: use of hands to walk up the legs in order to stand up.
o Diminished reflexes due to loss of strength and tone.
o Over time  contractures at the achilles tendon  toe-walk  wheelchair
dependent by adolescence.
o Death due to respiratory or cardiac dysfunction.
o Diagnosis by genetic testing  golden standard for diagnosis.
 Biopsy can aid in diagnosis by showing absent dystrophin on
immunochemistry and muscle replacement with fat and fibrosis.
 CK level is the initial screening tool. Elevated aldolase and muscle
CK. As the disease progresses; the muscle will be replaced by fibrosis
and fat thus the levels will eventually drop.
 Echo and ECG required for dilated cardiomyopathy and conduction
abnormalities.

pg. 298
 Duchenne muscular dystrophy

• Onset at age 2-3

• Proxima l muscle weakness (eg , Gower sign , calf pseudohypertrophy)
Clinical presentation
• Dilated card iomyopathy
• Scoliosis

• t Serum creatine kinase

Diagnosis • Genetic testing : dystrophin deletion
• Muscle biopsy: fibrosis, fat, muscle degeneration

Treatment • Glucocorticoids

• Wheelchair dependent by adolescence

Prognosis
• Death at age 20-30 from respiratory/heart failure

• Myotonic dystrophy:
o Expansion of cytosine-thymine-guanine (CTG) trinucleotides in the dystrophia
myotonica protein kinase (DMPK).
o Myotonia; affects skeletal, cardiac, and smooth muscle.
 Most notable when patient is unable to release hand after handshake
(grip myotonia) due to involvement of the distal musculature.
 Skeletal muscle weakness prominent in the face, forearms, hands and
ankle dorsiflexors (bilateral foot drop).
• Involvement of the face  ptosis, flat affect, and lid lag.
 Dysphagia; most dangerous smooth muscle manifestation 
aspiration pneumonia.
 Oropharyngeal muscle weakness  dysarthria.
 Cardiac muscle  arrhythmias.
o High arched palate due to reduced fetal temporalis and pterygoid muscle
growth.
o Die of respiratory failure or cardiac arrest at the age of 40-50.

Myotonic dystrophy

• Autosomal dominant
Genetics • CTG trinucleotid e repeat expansion
• Repeat length inversely correlating with age of onset

• Myotonia (delayed muscle relaxation)

Clinical • Progressive muscle weakness (eg , face, hands)
presentation • Childhood form : cognitive & behavioral problems
• Infanti le form : hypotonia, arthrogryposis

• Arrhythmias
Associated • Cataracts
findings • Excessive daytime sleepiness
• Testicular atrophy/infertility

Diagnosis • Genetic testing

Treatment • Symptomatic care

Rett syndrome:

• Mutations in the X-linked MECP2 gene.

• Abnormalities in cortical dendrites (e.g. shorter branches, difference in remodeling)
• Normal development with a subsequent regression of speech, loss of purposeful
hand movements (e.g. inability to feed or dress self), gait abnormalities, and the
development of stereotypical hand movements typically at age 6-18 months.

pg. 299
 • C/P:
o Alternating episodes of hyperventilation and hypoventilation occurs during
episodes of heightened emotion. Associated with stereotypical movements.
o Deceleration of head growth is an early sign.
o Microcephaly.
o Autistic behavior.
o Gait abnormalities; lurching gait.

Rett syndrome

• Rare neurodevelopme ntal disorder, greater incidence in girls, onset age 6-18 months
• Initially, nonmal development followed by:
Key
o Loss of speech
features
o Loss of purposeful hand use, stereotypica l movements
o Gait abnormalities

• Microcepha ly
• Seizures
Additional
• Breathing abnorma lities
find ings
• Sleep disturbance
• Autistic features

Etiology • MECP2 gene mutations

Neuropathology • Deceleration of brain growth

Prognosis • Middle-aged life expectancy; reduced mobility, seizures , respiratory difficulties

Fragile X syndrome:

• X linked dominant; trinucleotide expansion of CGG repeats.

• Most common cause of inherited intellectual disability.
• Speech and motor delays in early childhood and display features of ADHD and
autism.
• C/P:
o Prominent forehead.
o Large ears.
o Long, narrow face.
o Prominent chin.
o Macroorchidism.
o ADHD and autism.
o MITRAL REGURGITATION due to mitral valve prolapse.
• Diagnosis by PCR and then southern blotting (to measure the length of the CGG
repeats).
• Normal life expectancy.

pg. 300
 Features of fragile X syndrome
Fragile X syndrome
• Trinucleotide (CGG) repeat expansion of FMR1
Pathogenesis • Gene methylation silences FMR protein
• X-linked dominant inheritance

Neuropsychiatric
.
• Developmental delay
Intellectual disability
• Attention deficit hyperactivity disorder
features • Autism spectrum disorder
• Self-injurious behavior (eg, hand biting)
• Anxiety

• Long face with prominent forehead & chin

• Large, protruding ears
Examination
• Macroorchidism (age >8)
findings
• Macrocephaly
• Joint hypenmobility (eg, fingers, wrists)

Diagnosis • FMR1 DNA analysis (PCR or Southern blot)

FMR = fragile X mental retardation .

Autosomal trisomies:

Down syndrome Findings: intellectual disability, flat facies, Incidence 1:700.

(trisomy 21 ) prominent epicanthal folds, si ngle palmar
crease, incu rved 5th fin ger, gap between 1st 2
toes, duodenal atresia, Hirschsprung disease,
congenital heart disease (eg, atrioventricular
septa) defect), Brushfield spots. Associated w ith First-himester ultrasound commonly shows
ea rly-onset Alzheimer disease (chromosome 21
codes for amyloid precursor protein) and t risk
of ALL and AML.
95% of cases due to meiotic nondisjunction
(t with advanced maternal age; from l:1500 in
women < 20 to l:25 in women > 45 years old).
Ii.:!
4% of cases due to unbalanced Robertsonian
translocation, most typically between
chromosomes 14 and 21. Only 1% of cases are
due to postfertili zation mitotic error.
Edwards syndrome Findings: PRI CE Edward- P rominent
(trisomy 18) occiput, Rocker-bottom fee t, Intellectual
disability, N ondisjunction, C lenched fists
(with overlapping fi ngers), low-set E ars,
micrognath ia (small jaw), congenital heart
disease, omphalocele. D eath usually occurs by
age I.
Drinking age (21).
Most common viable chromosomal disorder
and most common cause of geneti c
intellectual disability.
I nuchal translucency and hypoplasti c nasal
bone. Markers for Down syndrome are HI up:
I hCG, t inhibin.
The 5 Ns of Down syndrome:
• Advanced materna l age
• Atresia (duodenal)
• Atrioventricular septa) defect
• Alzheimer disease (early onset)
• AML/ALL
Incidence 1:8000.
E lection age (18).
2nd most common autosomal trisomy resulting
in live birth {most common is Down syndrome).

Patau syndrome Findings: severe intellectual disability, rocker- Incidence 1:15,000.

(trisomy 13) bottom feet, m icrophthalmia, microcephaly, P uberty (13).
cleft li P/Palate, holoP rosencephaly,
Polydactyly, cutis aPlasia, congenital heart
(P ump) disease, Polycystic kidney disease,
omphaJocele. Death usually occurs by age I.

• Down syndrome:
o Normally down syndrome is hypotonic and have increased tone with
atlantoaxial instability.
o Atlantoaxial instability due to excessive laxity of the posterior transverse
ligament. (increased mobility between C1 and C2)
 C/P:

pg. 301
 • Behavioral changes.
• Back pain.
• Ataxia.
• Incontinence.
• Quadriplegia.
• Torticollis.
• Urinary incontinence.
• Vertebrobasilar symptoms.
 Diagnosis:
• Physical examination and lateral radiographs.
o Open mouth radiographs to visualize the odontoid.
 Treatment:
• Surgical fusion of C1 and C2.

Down syndrome comorbidities

• Intellectual disability
Neurology
• Early-onset Alzheimer disease

• Complete atrioventricu lar septal defect

Cardiology • Ventricu lar septal defect
• Atrial septa l defect

• Duodenal atresia
Gastroenterology
• Hirschsprung disease

• Hypothyroidism
Endocrinology • Type 1 diabetes mellitus
• Obesity

Hematology • Acute leukemia

Rheumatology • Atlantoaxia l instability

Trisomy 13 (Palau syndrome) Trisomy 18 (Edwards sy ndrome)

Midline defects

Clenched hands
with overlapping

Cardiac '""'"'

CI UWorld

Cri-du-chat syndrome:

• 5p deletion.
• C/P:

pg. 302
 o Cat-like cry.
o Microcephaly.
 Metopic suture.
o Hypotonia.
o Short stature.
o Hypertelorism.
o Wide and flat nasal bridge.
o Intellectual disability.

Hereditary fructose intolerance:

• Aldolase B deficiency.
• Presents after introduction of fruits and vegetables.
• C/P:
o Vomiting.
o Poor feeding.
o Lethargy.
o Seizures or encephalopathy.

Galactosemia:

• Galactose-1-phosphate uridyl transferase activity in the RBCs is decreased.

• After consumption of breast milk or regular infant formula.
• C/P:
o Vomiting.
o Poor weight gain.
o Jaundice & conjugated hyperbilirubinemia.
 Some might have unconjugated hyperbilirubinemia due to the
hemolysis.
o Hepatosplenomegaly.
o Failure to thrive.
o Bilateral cataracts due to galactitol.
o Hypoglycemia leading to seizures.
• Increased risk of E. coli sepsis.
• Avoid lactose. (does not reverse CNS problems).
• Supportive laboratory findings: nonglucose urine reducing substances suggestive of
galactosuria.
• Treatment:
o No cow milk or breast milk.
o Give soymilk.

pg. 303
 Galactosemla
• GALT deficiency
Etiology • Autosomal recessive
• Galactose accumulation after lactose or galactose ingestion

• Jaundice & hepatomegaly

Clinical • Vomiting & poor feed ing/failure to thrive
findings • Cataracts
• Increased risk for Escherichia coli sepsis

• t Bilirubin , AST, ALT

Laboratory • ! Glucose
findings • Metabolic acidosis
• + Urine reducing substance

• May be identified on newborn screening

Diagnosis
• Absent red blood cell GALT activity

Treatment • Galactose-free diet (eg, soy-based formula)

ALT = alanine aminotransferase; AST = aspartate aminotransferase:

GALT = galactose-1-phosp hate uridylyltransferase.

Phenylketonuria:

Phenylk.e tonuria

• A u1tosomal raoessive mulalion

in phenylalanine hydroxylase

Pathophysl ology • Failure to convert phenyl lani ne

into tyrosine results in
hyperphenyla laninemia &
neurologic injury

• Severe inlelleclual disabihly

• Seizures
Cllnl:cal ·reature s • Mu ty boo,y odor
• Hypopl menl !Ion Involving
kin, h ir, eye & r in ,nuclei

• New oom c ning (I nd m

mas.s spectrome try)
DI gnosls
• Quantimll,ve amino acid nol I
( ph nylalanine I vels)

Treatment Diel·a ry reslriclion of pt, nylalanine

C) UWQrid

• Avoid high protein diet.

Glycogen storage disease:

pg. 304
 Impairments in glycogenolysis
1,4-<J-glycosidic bond

Glucose
Engulfment by
_, 1,6-a-glycosidic bond
_,.. fySOSOmeS
·-.,,_~
/ P, ~ Gl)'togen
Jype Y· McArdle disease Jype H· Pompe disease

Glucose 1-P 1 phosphorylase

Limrt
dextrin
Debfanclmg enzyme
(a-1,4 - a-1.4,transfetase)
Det>ranctmg enzyme
Glucose (a-1,6 - glucosidase}
· Musclephc)sphc)cylase
deficiency
• Weakness & fatigue
• Normal glucose levels
• Sevet-e cardiomegaly
• Glycoget, accumulation
with exercise inlysosomes
• No rise in blood raaate
levels after exercise
Ivoe m·Cori disease
• Hepalomegaly
• Ketotic hypoglyoemia
• Hypotonia & weakness
• Abnonnal glycogen with
very short outer chains

P, Gl)'togen
phosphorylase

Glucose 1-P

Glycolysis - Glucose 6-P

Type I. YOO Giertce disease

Glucose • Hepa1omegaly & slealosis

6-phasphatase • Fasting hypoglyoemia
- ~aadosls
• Hypen,ricemia &
hypertipidemia
Glucose
©UWOlld

pg. 305
 Glyca,gen .storage At leatt 15 t)·pe!l have bi?en idenl'inl?d, .:i 11 er fo or C.:irholt}•dr.a te Mrubolism.
di5ll!ase~ Tl!:'l111.lting in abnmmal gfyc.-o,gen metaholi:sm ·1 p~ I, JI, Jll, anJ - .:ire auto.soma! reC'!:!1,1ive.
anJ an ;1ccumulatioo of gl.yrog,:::n \\•ithin ce.lk
Pl!'Iiodic- ;1cid 'chi ff ~tain i.dt!'.llti6e!l glycogen
anJ is mefol in idenl'if}·ing thes,e .:'l i!le;1:5es:..
115U&E RNDINliS DEJH'.lOO(IUYlii
Van Gierke disease Severe f;1:5t'ng ltypog!l:,-cemfa, Gl11..::ose-,fi-phosphat;1:5e Treatment: fre:que11101al
ltypell t f ·Glycogen in live.r anJ glL1.c ose/c-omstarch; avoidance
lddnq1;, t blood l.act;JJe, af fructrue and galai::to:!e
t triglyceri.de:1, uri.c add Jmp-aired gl11.Con.eogeneiis and
{Gout), .:ind hep;rto"megaly, gl:,-cogenoly~s
1enomeg.:i.ly. Liver Jo e!l not
1e-gul:Ue blood gluco.M!.
Pompe disease C,u di,:,meg.:i l)·, ltyp-ertrophk L}'50:lomal atid a:-l ,4- Pom Pe trmihe!l the l'11mP {1st
ltrpelll cardfomyopatliy, hypoomia, glucosid;ase (acid m.alta.3e) anJ ◄• th letter; h~rt, li,-er,
e'.l:(!rci:ie intoleranc~ anJ with a-l,6-gluco.sid:l:!e acti.,.ity and muscle)
temi<: 6ndi~ lead to ~i'I
death.
Cari disease Milder form of YOO Gie.rke .Debrnnchi ng enzyme Cfoco n.eogene~s i!l intact
!type Ill} {type I) wit.Ii normal blood {a -l,6-gluc.-oJid:l:!e}
lact:ite le\-els:.. Accumulation
af limit dex trin- lih!
structml!:'l in cytruol.
1· gl)-coge.n in mmd e, but Sl:elrul muscle g,fyc.-ogen Blood gl ucos,e levels typi<:allJ'
ltrpeVI muscle cannot br~l: it irow11 phosph.oryl:l:!e unaffected
...., painful Mus.cle: crampi, {MJ10ph.o.spho11•l.:rne) Mu\1dle = M1tsd .e
M}oglobi11uri.a {rl?d urine) 1-lallmart is a 1kitvt!'.llo1ts
with stremto [J3 e~erd:1e, • nd !act.ate cmve 'th n,mnal
anhythm ·a from eli!:Ctro.l}·te rue in :ammoni:a level dur ing
ah110Tmalities. Second ind e'.l:(!rci:se
phen.amenon l!Oted J L1ring
e:«!rd ie due lo t mus.ct1l;ar
blood !low.

• Von Gierke:
o C/P:
 Doll-like face (i.e. fat cheeks), thin extremities, short stature,
protuberant abdomen (hepatorenomegaly).

Lysosomal storage diseases:

pg. 306
 Niemann-Pick disease versus Tay-Sachs disease

Diagnosis Niemann-Pick disease Tay-Sachs disease

Sphingomyelinase ~-hexosaminidase A
Pathology
deficiency deficiency

• Autosomal recessive inheritance

Epidemiology
• Ashkenazi Jewish heritage

Onset Age 2-6 months

• Loss of motor • Loss of motor

milestones milestones
• Hypotonia • Hypotonia
Clinical • Feeding difficulties • Feeding difficulties
features
• "Cherry-red" macu la • "Cherry-red"
• Hepatosplenomegaly macula
• Areflexia • Hyperreflexia

© UWorld

• Gaucher’s Disease:
o Glucocerebrosidase deficiency.
o C/P:
 Anemia.
 Thrombocytopenia.
 Hepatosplenomegaly.
 Osteoporosis.
 Bone crises.
 Avascular necrosis.
 Gaucher cells.

Gaucher disease

• Autosomall recessive , t preva lence in Ashkenazi Jews

Etiology • Gluoocerebrosidase deficiency --, glucocerebroside accumulation in
macrophag,es

• Severe spllenomegaly, hepatomegaly

Ty1pical • Anemia, thrombocytope:nia
features • Bony pain
• Failure to thrive, delayed puberty

Management • Enzyme replaceme nt

• Krabbe’s Disease:
o Galactrocerebrosidase deficiency.
o C/P:
 Developmental regression.
 Hypotonia.
 Areflexia.
 Blindness.
 Deafness.
 Paralysis.
 Seizure.

pg. 307
  Globoid cells.
• Fabry disease:
o Alpha galactosidase deficiency.
o C/P:
 Angiokeratomas.
 Peripheral neuropathy.
 Asymptomatic corneal dystrophy.
 Renal failure.
 Heart failure.
 Thromboembolic events.
• Metachromatic leukodystrophy:
o Arylsulfatase A deficiency.
 Central and peripheral demyelination.
o C/P:
 Dementia.
 Ataxia.
• Hurler’s syndrome: mucopolysaccharidoses.
o Lysosomal hydrolase deficiency.
o 6 months to 2 years.
o C/P:
 Coarse facial features.
• “Gargoylism”.
 Inguinal or umbilical hernia.
 Corneal clouding.
 Hepatosplenomegaly.

Disorders of fatty acid metabolism:

l
Fatty acid Primary carnitine deficiency
Muscle weakness
Acy/ CoA synrhase Card iomyopathy
Hypoketotic hypoglycemia
AcylCoA Elevated muscle triglycerides

Ca rnitine ~ Acyl-carnitine

--l Cytoplasm

Carnitine T
- T/-/ - -t------
_ _ . .,1 -- -CA
Acyl-carnitine
Mitochondria l
mat rix
Acyl CoA
Medium chain acyl CoA
~ 1 Acy/CoA dehydrogenase {MCAD)
FA DH, J dehydrogenase deficiency
Hypog lycemia
Trans-enoyl CoA • Hypoketotic hypoglycemia
I

Systemic carnitine deficiency:

• C/P:
o Hyperammonemia.
o Hypoprothrombinemia.
o Hypoglycemia.
o Acute episodes of encephalopathy.
• Elevated acyl carnitine.

pg. 308
Hyperlipidemia:

• Universal screening for dyslipidemia is recommended at age 9-11 and at age 17-21.

Fetal alcohol syndrome:

• Most common teratogen.

• C/P:
o Thin vermillion border.
o Small palpebral fissures.
o Smooth philthrum.
o Compromised growth.
o Intellectual disability or delayed developmental milestones.
o ADHD or social withdrawal.

I Common causes of intellectual disability

Syndrome Key phys ical findings

I Face

Fetal alcohol • Smooth phittrum

syndrome • Thin vermillion border
• Small patpebral fissures
• Microcephaly
I
Face
• Flat facial profile
• Slanted palpebrat fissures
• Small low-set ears
Down
Body
syndrome
• Excessive skin at nape of the neck
• Single transverse patmar crease
• Ctinodactyty
• Large space between the first 2 toes

Face
• Long narrow face
• Prominent forehead & chin
Fragi le X • Large ears
syndrome
• Macrocephaly
Body

l • Macroorchidism

IMMUNOLOGY:

Immunodeficiency:

pg. 309
 Primary immunodeficiency syndromes
Age of Laboratory
Classlflcatlons Key features Examples
onset findings

• Encaps ulated bacteria • X-linked

Variable • l lg &
(recurrent agammaglobulinemia
B-cell disorders (>4-6 vaccine
sinopulmonary infection) • Common variable
months) response
• Enterovirus• immunodeficiency

• DiGeorge syndrome
• t (T)
• Viral, bacterial & ~ungal
T-cell (& Early Leukocytes • Severe combined
infections (eg, Candida,
combined B- & T- (<4-6 • ± ! lg & immunodeficiency (B
Pneumocystis)
cell) disorders months) vaccine & T)
• Failure to thrive
response • Wiskott-Aldrich
syndrome (B & T )

• Skin & soft tissue • Chronic

• Normal lg
infections granulomatous
Phagocyte Early • Impaired
• Fungal infections disease
disorders (childhood) oxidative
• Catalase-positive • Le ukocyte adhesion
burst*-
organisms** defect

• l CH50
• C1q deficiency
Complement • Neisseria infections • Normal
Variable • Termina l complement
disorders • Autoimmune disease leukocytes
(C5-C9) deficiency
&lg

lg = immunoglobulin.
*only in X-linked agammaglobulinemia.
..only in chronic granu lomatous disease (eg , Staphylococcus aureus, Burl<holderla, Serratia , Pseudomonas)

• X-linked (Bruton’s) agammaglobulinemia:

X-linked agammaglobul inemia

• BTK gene mutation resulting in

defective Bruton tyrosine kinase
Pathophysio logy
• Impaired B-cell maturation &
immunoglobulin production

• Recurrent sinopulmonary &

gastrointestinal infections at age
Clinical >3-6 months
manifestations • Chronic enteroviral infection
• Small or absent lymphoid tissue
(eg, tonsils, adenoids)

• L lmmunoglobulins & antibody response

Laboratory to vaccines
findings • Flow cytometry: I corn• B cells
& normal T cell s

Treatment
• lmmunoglobulin replacement therapy
• Prophylactic antibiotics if severe

Don’t give live attenuated vaccines due to inability to make meaningful

o
antibodies.
• IgA deficiency:

pg. 310
 Selective lgA deficiency

Epidemiology • Most common primary immune deficiency

• Usually asymptomatic
• Recurrent sinopulmonary & gastrointestinal
Clinical infections
features • Associated with autoimmune disease (eg, celiac)
& atopy (eg, asthma, eczema)
• Anaphylaxis during transfusions

• Low or absent lgA

Diagnosis
• Normal lgG, lgM levels, B cells

• Supportive care
Treatment • Medical alert bracelet for transfusion reactions
(for severe deficiency)

o Anaphylaxis due to IgE antibodies against IgA.

• Common variable immunodeficiency:

Common variable Immunodeficiency

• Abnormal differentiation of B oells into plasma cells --+

Pathophyslology
decreased immunoglobulin production

• Symptom onset classically age 20-40, as early as puberty

• Recurrent respiratory infections (eg, pneumonia, sinusitis,
otitis)

Clinical
• Recurrent GI infections (eg , Salmonella, Campylobacter,
Giard/a)
manifestations
• Chronic disease:
o Autoim mune (eg, RA, thyroid disease)
o Pulmonary (eg, bronchiectasis , fibrosis)
o GI (eg, chronic diarrhea. IBD-like conditions)

• H lgG, t lgA/lgM
Diagnosis
• No response to vaccination

Management • lmmunoglobulin replacement therapy

GI = gastrointestinal; IBD = inflammatory bowel disease; RA = rheumatoid arth ritis.

Normal B cell count and decreased immunoglobulins.

o
Mechanism of chronic lung disease:
o
 Immune-mediated interstitial lung disease: pulmonary fibrosis and
scarring.
 Bronchiectasis due to frequent infection & inflammation.
• Hyper-IgM syndrome:
o X-linked recessive defect in CD40 ligand.
o Elevated IgM levels, and low IgA and IgG.
o Cannot convert IgM to IgG.
 No B cell differentiation.
o Recurrent sinopulmonary infections such as Pneumocystis jiroveci
pneumonia.
 Cryptosporidium enteritis.
 CMV hepatitis.
o Antibiotic (TMP-SMX) prophylaxis, recombinant G-CSF, and IV
immunoglobulins.
• DiGeorge Syndrome:

pg. 311
 DiGeorge syndromefvelocardiofacial syndrome

• Chromosome 22q11.2 deletion

Pathogenesis
• Defective development of pharyngeal pouches

• Conotrunca l card iac defects (tetralogy of Fallot,

truncus arteriosus, interrupted aortic arch)
Clinical • Abnormal facies
features • Thym ic hypoplasia/aplasia (T-ce ll deficiency)
• Craniofacial deformities (cleft palate)
• Hypocalcemia/Hypoparathyroidism

DIGeorge Syndrome

' Aberrant 3rd and 4th branchial pouch development re&ults In cardiac defects and hypocalcemla ln addition
to T call dal'h::iencr euworl(I

Clinical diagnosis.
o
 Confirmed by FISH.
o Treatment:
 TMP-SMX.
 IV Ig bridge.
 Thymic transplant.
o Hypocalcemia  tetany and seizures.
o Increased risk of graft versus host disease with transfusions.
• IL-12 receptor deficiency:
o Decreased IFN-gamma levels.
o Susceptible to mycobacterium and salmonella.
o C/P:
 Disseminated disease.
• Disseminated TB after BCG vaccine.
 Sepsis.
 DIC.
o Diagnosis: decreased IFN-y.
o Treatment: antibiotics, IFN-y therapy.
• Severe combined immunodeficiency:
o Absent T-cell receptor excision circles in dried blood.
 TRECs are circular DNA excreted by developing T cells in the thymus.
o Diagnosis:
 Decreased TRECs on PCR.
 Confirmation: absent T cells on flow cytometry and a mutated IL2RG
or adenosine deaminase gene.
 CXR: no thymus shadow.
 LNs show absent germinal centers.

pg. 312
 Severe combined immunodeficiency

Etiology
.. Gene defect leading to failure of T cell development
B cell dysfunction due to absent T cells

Inheritance • X-linked recessive

• Autosoma l recessive

• Recurrent, severe vira l, fungal , or opportunistic

Clinical
features . (ie, Pneumocystis) infections
Failure to thrive
• Chronic diarrhea

Treatment . Stem cell transplant

© UWor1d

• Wiskott-Aldrich syndrome:

Wiskott-Aldrich syndrome

• X-linked recess ive defect in WAS proteiin gene

Etiology
• Impaired cytosl<eleton changes in leukocytes, platelets

Clin ical
• Eczema

features
• Microthrombocylopenia (small platelets , llow platelet count)
• Recurrent infections

Treatment • Stem cell transplant

o C/P:
 Bleeding: post-circumcision or bleeding from umbilical stump.
o Increased IgA and IgE.
 Ataxia Telangiectasia:
o C/P:
 Ataxia.
 Telangiectasia.
 Immunodeficiency.
• IgA deficiency.
 Mask-like facies.
 Tics, drooling.
o DNA repair mutation.
o Increased AFP.
o Increased risk of leukemia and lymphoma.
• Chronic granulomatous disease:

Chronic granulomatous disease

• Majority of cases X-linked recessive

Clinica l • Recurrent pulmonary & cutaneous infections
features • Catalase-positive pathogens (eg, Staphylococcus aureus, Serra/fa, Burkholder/a,
Aspargillus)

• Neutrophil function testing

Diagnosis 0 Dihydrorhodamine 123 test
0 Nitroblue tetrazolium test

o Mutation in NADPH oxidase that affects phagocytic oxidative burst and

intracellular killing by phagocytes.

pg. 313
 o C/P:
 Pneumonia.
 Empyema.
 Abscesses.
 Lymphadenitis.
o Best test  flow cytometry (dihydrorhodamine test).
o Treatment:
 Lifelong antimicrobial prophylaxis  TMP-SMX and
itraconazole.
 Interferon gamma for those with severe phenotypes.
 Definitive  bone marrow transplant.
• Chediak-highashi syndrome:
o Autosomal recessive mutation in lysosomal trafficking regulator (LYST) gene;
resulting in impaired phagolysosome formation.
o Giant granules in neutrophils.
o C/P:
 Partial oculocutaneous albinism.
 Recurrent cutaneous infections.
• Staph aureus and strep pyogenes are common.
• Leukocyte adhesion deficiency:
o Defective integrins LFA-1 (CD18) (beta-2 integrin) on leukocyte surface.
o Treatment:
 Supportive.
 Prophylaxis with TMP-SMX.
 Hematopoietic stem cell transplant.

Leukocyte adhesion deficiency

• Defect in CD18-containing integrins

Pathophysiology
• Impaired leukocyte adhesion & endothelial transmigration

• Skin & mucosal infections (eg, cellulitis, periodontitis) without pus formation
Clinical features • Impaired wound healing
• Delayed umbilical cord separation (age >3 weeks)

Laboratory findings • Leukocytosis & neutrophilia

Primary humeral deficiencies

Diagnosis Clinical features Laboratory findings

X-linked I or absent B cells

agammaglobu llnemla I lmmunog lobulins

Common variable Normal B cells

lmmunodaflclency I lmmunog lobulins

Recurrenl &/or sev re Normal B cells

lgA deficiency sinopulmonery inleclions
with vi ruses &
I lgA
encapsul ted b!lcter1e
Normal B cells
Hyper-lgM synd,ome I lgG& lgA
I lgM

lgG subclass Normal 8 cells

doflclency I lgG

ouwono

pg. 314
 Humeral Immunodeficiency syndromes

B cell
Condition lgG lgA lgM lgE
count

CD40 ligand deficiency

Normal I I t
(hyper-lgM syndrome)

Common variable
Normal I I I
immunodeficiency

Job syndrome
Normal Normal Normal Normal
(hyper-lgE syndrome)

Selective lgA deficiency Normal Normal Normal Normal

X-linked agammaglobulinemia I I I I

Transient hypogammaglobulinemia of infancy:

Transient hypogammaglobulinemia of infancy

Pathophyslology • Prolonged (age >6 months) physiologic lgG nadir

• May be asymptomatic
Clinical features • Recurrent respiratory infections in infancy
• Atopy (eg, eczema, food allergies)

• ! lgG (± ! lgA and/or lgM)

Laboratory findings • Normal antibody response to vaccines
• Normal B and T lym phocytes

Treatment • Observation; self-resolution in early childhood

lmmunoglobulin levels in infancy

1,200

1,000

800

600

--' 400
E
0
0 300
'a,
E 200
I Newborn lgG

150
I coolribu11on J
I
125

100

75

50
25

0
0 2 4 6 8 Birth 4 6 8 10 12
Months
'"Malemal lgM does nol Cf'O$S p&acenta .._,,

• Prophylactic antibiotics may be considered for recurrent infections.

pg. 315
Complement deficiency C5 to C9:

• Increased risk of disseminated bacterial infections.

o By encapsulated bacteria: strep pneumonia, H influenza, and Neisseria
meningitidis.

Angioedema:

• Inherited or acquired.
o Inherited is autosomal dominant; C1 esterase inhibitor deficiency.
o MCC acquired is ACE inhibitors.
 Can occur at ANYTIME. Not just when the medication is
started.
• C1 esterase inhibitor deficiency. Elevated edema-producing factors C2b
bradykinin.
o Give FFP.
• C1q levels are normal in hereditary angioedema and depressed in acquired.
• C4 levels depressed in both forms.
• C/P:
o Rapid onset:
 Noninflammatory edema of the face, limbs and genitalia.
 Laryngeal edema – can be life-threatening.
 Edema of the intestines resulting in colicky abdominal pain.
o No evidence of urticaria.
• Clinical diagnosis.
• ACE inhibitors contraindicated.
• Treatment is secure the airway and give SC epinephrine.
o No response  tracheostomy.
o Give H1 and H2 blockers or steroids.
o FFP for C1 esterase inhibitor.

Hereditary angloedema

• Aut osomal dominant or de novo mutation

Pathophysiology
• C1 inhibitor deficiency/dysfunction
• Excessive bradykini n --,. fluid extravasation into skin & mucosal tissues (eg,
bowel wall, upper airway)

• Cutaneous swelling (eg, face, extremities, genitalia)

0 No urticaria or pruritis
Clinic al features 0 No identifiable trigger (eg, ACE inhibitor, NSAID)
• Colicky abdominal pain, vomiting, diarrhea
• Laryngospasm, airway obstruction

Diagnosis
• J, C4 level
• J, C1 inhibitor protein or function

Acute
• C1 inhibitor concentrate

management
• Bradykinin antagonist (eg, icatibant)
• Kallikrein inhibitor (eg, ecallantide)

pg. 316
 C1 inhibitor

f
Plasmi1/
Kallikrein

l
Plasm,n Bradykinin ~ Inactive products

F,bnn
l F,bnn split products

C1
l Aellvaled C1

_.d
f
C1 inhibitor Angioedema

Hypersensitivity reactions:

Hypersensitivity reactions

Immunology Examples

Type I • Anaphy1axis
lgE-mediated
(immediate) • Urticaria

Type II lgG & lgM autoantibody- • Autoimmune hemolytic anemia

(cytotoxic) mediated • Goodpasture syndrome

• Seru m sickness
Type Ill
Antibody-antigen complex • Poststreptococcal
(immune
deposition glomerulonephritis
complex)
• Lupus nephritis

Type IV • Contact dermatitis

T cell- & macrophage-med iated
(delayed type) • Tubercu lin skin test

• Anaphylaxis:
o Give intramuscular epinephrine. Plus H1 and H2 blockers and steroids.
 B2 agonist causes bronchodilation and decreases release of
inflammatory mediators.
 A1 agonist effect causes vasoconstriction, which raises blood
pressure and decreases upper airway edema.
o Allergen immunotherapy.
o Bee sting should be treated as anaphylaxis if the person gets anaphylaxis. If
it’s only urticaria, remove the bee needle.
• Urticaria:
o C/P: wheal, welt, or erythema. No hypotension
o Clinical diagnosis.
o Self-limiting.
o Observe or use topical antihistamines.
• Insect venom allergy:
o IgE mediated.
o C/P: local swelling/ pain <1 day.
 Systemic: urticaria, angioedema, anaphylaxis.

pg. 317
  Delayed: serum sickness and vasculitis.
Diagnosis: skin and blood testing.
o
Treatment:
o
 Local: cold compresses, topical antipruritic, oral analgesics remove
stingers by scraping.
 Anaphylaxis: epipen.
 Venom immunotherapy.
• Serum sickness-like reaction:
o Type 3 hypersensitivity.

Serum sickness-like reaction

. Immune complex formation

Etiology • Antibiotics (beta-lactam, sulfa)
• Acute hepatitis B

• Symptoms 1-2 weeks after exposure

Clinical features
. Fever, skin rash, polyarthralgia

. Remove/avoid offending agent

Treatment • Supportive care
• Steroids or plasmapheresis if severe

Serum sickness & serum sickness-like reaction

ss SSLR

Common Foreign proteins in antivenom , antitoxin, or Medications, particularly cefaclor, penicillin & TMP-
triggers monoclonal antibody SMX

Immune
High titer Mild or none
complexes

Complement
Extensive Minimal or none
activation

Onset 5-14 days after exposure 5-14 days after exposure

Fever High Low-grade

Arthralgia Yes Yes

Urticaria Yes Yes

Resolution Spontaneous Spontaneous (discontinue drug if still receiving)

• Atopic dermatitis:

pg. 318
 Atopic dermatitis (eczema)

Riisk factors
• Family history of atopy (eczema, asthma, allergic rhinitis)
• Mutation in fi laggrin gene

• Acute: pruritic, e~hematous patches & papules

Q Infant: extensor surfaces, trunk & face
Clinical features
Q Chi ld/adult flexural creases
• Chronic: lichenified plaques

• Topical emollients
Treatment • First line: topical corticosteroids
• Second line: topical calcineurin inhibitors (eg, pimecrolimus)

• Secondary infection
Complications Q Impetigo (eg , Staphylococcus aureus)
0 Eczema herpetioum (ie, herpes simplex virus}

Prognosis
• Chronic with intermittent llares in early chi ldhood
• Usually resolves by adolescence

Atopic dermatitis distribution by age

Child or adult: flexor surfaces

Infant: extensor surfaces

Elbows
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o Filaggrin gene mutation.

Infectiou s complication s of atopic dermatitis

Diag nosis Pathogen Prese ntation

• Papules & pustules with honey-crusted

Staphylococcus aureus Streptococcus
Impetigo adherent coating
pyogenes
• ± Pain or pruritus

• Painful vesicular rash

Eczema herpeticum Herpes simplex type 1 • "Punched-out" erosions & hemorrhagic
crusting

Mollu scum
Poxvirus • Skin-colored papules with central umbilication
contagiosum

• Pruritic circular patch with central clearing

Tinea corporis Trichophyton rubrum
• Raised, scaly border

pg. 319
 o Eczema herpeticum: oral or IV acyclovir.
• Allergic contact dermatitis:

Allergic contact dennatitis

• Type IV hypersensitivity reaction

Pathophysiology
• Common triggers: poison ivy/oak, nickel, dyes, topical medications, skin care products

Clinical • Acute : pruritic red, indurated plaques with vesicles/bullae

presentation • Chronic: lichenification, fissuring

• Clinical findings
Diagnosis
• Patch testing for persistent cases

• Avoidance of suspected allergen

Treatment
• Topical or system ic corticosteroid

Antigens: poison ivy, oak, sumac, nickel, and neomycin.

o
C/P:
o
 12 hours after exposure  severe pruritis and erythematous streaks
develop with edema and vesicles.
o Clinical diagnosis.
o Resolves 1-3 weeks.
o Treatment:
 Reduction of post-exposure spread.
 Topical/oral steroids.
o Prevention by allergen avoidance.
• DRESS syndrome: drug rash with eosinophilia and systemic symptoms syndrome.
o Causes:
 Allopurinol.
 Antiepileptic drugs.
 Antibiotics.
o C/P:
 Fever.
 Pruritic rash.
 Lymphadenopathy.
o Labs:
 Eosinophilia.
 Thrombocytopenia.
 Atypical lymphocytosis.
o Treatment:
 Drug withdrawal.
 Symptomatic: corticosteroids.

pg. 320