Peds Notes:

Kawasaki Dz: fever >5d + 4/5: conjunctivitis, mucositis (strawberry tongue),

rash, distal extremity changes, and cervical LAD  Echocardiogram is
indicated for all patients to assess for coronary artery aneurysms.

Vs. Scarlet fever: tx is oral penicillin, s/s are fever, strawberry tongue,
and cervical LAD + exudative pharyngitis + sandpaper rash, no
conjunctivitis or extremity edema

ADHD: Sx must be present before 12

Hyper IgE: severe atopic dermatitis + Steph/Candida infections, increased

eosinophils, normal WBC

Stroke in kids <6  nonfocal s/s: seizure, headache, lethargy  CT and MRI

Intracranial HTN: headaches, nausea, vomiting, visual changes, papilledema,

abducens nerve palsy [causes: GH, tetracyclines, Vit A derivatives like
isotretinoin]

UTI in child <2 years: 1-2 weeks ABX + renal/bladder US

BIND: unconjugated bilirubin  BBB  kernicterus: dystonia, chorea,

sensorineural hearing loss, gaze abnormalities

PKU: neurotoxic metabolites of phenylalanine buildup  irreversible neuro

injury (seizures, microcephaly); Dx by amino acid analysis

Meckel’s Diverticulum: consider small bowel pathology when upper and

lower scope reveal nothing, use Technetium 99 scan to Dx

Myositis ossificans: lamellar bone in extra skeletal tissues, results from

trauma, firm mobile mass with local swelling, inc ALP and ESR

Metatarsus adducts: medial forefoot, neutral hindfoot, flexible positioning 

reassurance

Clubfoot: medial forefoot and hindfoot, hyper plantarflexion, rigid positioning

 serial manipulation and casting  surgery

Cocaine abuse – weight loss, behavioral changes, erythema of nasal mucosa

Anorexia: <18.5 BMI, fear of weight gain and distorted body image

Bulimia: binge eating, compensatory behaviors

Avoidant/restrictive: lack of interest in food based on sensory

Acute rheumatic fever – untreated S. pyo  carditis, chorea, erythema
marginatum, subcutaneous nodules, migratory arthritis

Tuft of hair + new-onset urinary incontinence  closed spinal dysraphism 

spinal MRI

Infectious ileocecitis (pseudo appendicitis): RLQ pain, fever, leukocytosis ++

++ watery/mucoid diarrhea; Yersinia and C. jejuni most common

Pediatric OSA presents with secondary enuresis  CV complications like

systemic HTN

Hyperbilirubinemia: if unconjugated bilirubin has rapid rise despite

phototherapy or is >25  exchange transfusion

IVIG: severe hemolytic dz of newborn d/t Rh incompatibility (RhD+

baby, - mom)

IV fluids/Formula supp adjunct to photo: only if inadequate elimination

or dehydration

Fetal ohol syndrome: triad – small palpebral fissures, smooth philtrum, thin
vermillion border +/- poor growth and neurodevelopment (dev. delay, ID,
hyperactivity, poor social skills)

Chronic ITP = <100,000 for >1yr with persistent bleeding and

thrombocytopenia despite GCs, anti-D, and IVIG  splenectomy

Platelet transfusion – life threatening ITP bc. Antibodies will destroy

them anyways

GCSF – used to tx neutropenia

EPO – used for anemia to stimulate RBC production

Desmopressin – promotes vWF release (which doesn’t have

thrombocytopenia)

Anti-D IG – first line for ITP w/ Rh+

Spondylolisthesis – anterior slippage; palpable step-off, exacerbated by

lumbar extension

Hypoxic-ischemic brain injury (drowning)  neuronal death, cerebral edema,

inc ICP

Inc ICP  Cushing triad: HTN, bradycardia, irregular respirations

Heat exhaustion in CF pt: hyperthermia (104F) + weakness, dizziness,
profuse sweating, HA, or nausea; normal mentation (vs. exertional heat
stroke)  cooling and oral hydration

NAS: irritability high pitched cry, poor sleep, tremors, sneezing, tachypnea,
poor feeding, vomiting, diarrhea  mod/severe s/s  methadone or
morphine

TB meningitis: complication of TB where there is hematogenous spread of

mycobacterium to subarachnoid space; weeks of non-specific sx  rapid
progression to meningitis

CSF – lymphocytic pleocytosis, high protein, and low glucose

Osteo Imperfecta: AD, Col1A gene defect; recurrent fractures, joint

hypermobility short stature, and hearing loss

Dystrophin – DMD, DBD  muscle weakness, dec. bone density d/t GCs

Fibrillin-1 – Marfan  joint hypermobility, tall, no fx

FGFR3 – Achondroplasia  short stature, frontal bossing,

macrocephaly, not fx

FMR1 – Fragile X  ID, joint hyperlaxity, long narrow face, large ears,
not fx

TE fistula with esophageal atresia presents shortly after birth with copious
oral secretions and choking, coughing, and/or vomiting with feeding.

Dx: by inserting NG tube – will have resistance at proximal esophageal

pouch

Mgmt: Surgery & VACTERL screening: echocardiography, renal

ultrasound

Niemann-Pick vs. Tay-Sachs: both age 2-6 mo, cherry red macula, ): Loss of
motor milestones, Hypotonia, Feeding difficulties, AR, and Jews

NP (shingomyelinase): Hepatosplenomegaly, Areflexia

TS (B hexosaminidase A): Hyperreflexia

Young children often engage in magical thinking, believing in magical powers

of objects and imaginary characters. It is a normal phase of cognitive
development in children age 2-7.
Severe aortic coarctation increases LV afterload, presents in neonatal period
with CHF (respiratory distress, poor feeding) + cardiogenic shock upon
closure of ductus arteriosus.

Also: Differing UE and LE pulses, gallops

Pertussis: whooping cough + posttussive emesis. severe symptoms –

cyanosis, seizures, and apnea, during the paroxysmal phase  Tx: empiric
antibiotics (eg, azithromycin) given based on clinical presentation alone.

Hereditary spherocytosis (AD): triad of Coombs-negative hemolytic anemia,

jaundice, and splenomegaly. Suspect in patients with reticulocytosis,
hyperbilirubinemia, spherocytosis, and FHx of anemia. Dx: Eosin-5-maleimide
binding and osmotic fragility tests.

Labs: inc MCHC, - Coombs, spherocytes, inc. osmotic fragility (acidified

glycerol lysis test), and abnormal eosin-5-maleimide binding test

Tx: folic acid supp, blood transfusion, and splenectomy

Intussusception: MC in age 6-36 months; causes episodic abdominal pain,

currant jelly stools, and lethargy. A palpable, sausage-shaped abdominal
mass is not always present.

Retinitis pigmentosa is a genetic condition resulting in progressive

degeneration of the retina. Patients have progressive night blindness and
peripheral vision loss. Funduscopic examination may show retinal pigment
deposition in addition to retinal vessel attenuation and optic disc pallor.

Vitamin A deficiency causes xerophthalmia, characterized by excessive

dryness of the cornea and conjunctivae and night blindness. This
patient's cornea and conjunctivae appear normal. In addition, this
patient eats a variety of vegetables, many of which contain vitamin A.

Cerebral palsy is a nonprogressive motor dysfunction; prematurity is the

leading risk factor. The most common findings are gross motor delay in
infancy and spasticity (eg, hypertonia, hyperreflexia).

Tethering: LE weakness and hyporeflexia (UE unaffected)

SMA: delayed gross motor milestones, proximal weakness + hypotonia

Rett: normal development in infancy then regression, repetitive hand

movements (wringing) and abnormal gait (ataxia)
 Myotonic Dystrophy: SCM muscle wasting, no UMN signs, myotonia
(impaired grip release) >> sustained hypertonia

X-linked agammaglobulinemia: suspected in fully immunized child w H. flu b.

Laboratory studies reveal low immunoglobulin levels with deficient antibody
response to vaccines as well as markedly reduced CD19 + B lymphocytes on
flow cytometry.

Complement deficiency – Neisseria infection

Neutrophil function testing - chronic granulomatous disease, which

presents with recurrent skin and pulmonary infections with catalase-
positive organisms (eg, Staphylococcus aureus, Serratia marcescens)

Defect in NADPH oxidase  dec. formation of superoxide anions

and inability of phagocytes to kill certain bacterial and fungal
pathogens  recurrent abscesses + pulmonary infections caused
by catalase+ organisms (Burkholderia [Psuedomonas] cepacian)
and granuloma formation

Bordetella Pertussis: macrolide (azithromycin) is tx and postexposure

prophylaxis; should e given to all close and high risk contacts regardless of
immunization status

Allergen foods: An infant without severe, refractory eczema or an IgE-

mediated food allergy is considered low risk for developing food allergies,
and early introduction of highly allergenic foods after age 4-6 months is
recommended.

high-risk infants have severe, refractory eczema and/or

a known/suspected IgE-mediated food allergy. Allergy testing
(eg, IgE levels, skin testing) is recommended prior to the introduction
of highly allergenic foods in high-risk infants. Depending on the
results, a food challenge may be performed in the office (ie, mild to
moderate skin reaction) or complete avoidance may be advised (ie,
large wheal on skin test) until testing is repeated the following year

Puberty: Breast development is typically the first manifestation of puberty

and is followed by menarche within 2-2.5 years. Premenarchal patients age
<15 with normal breast and pubic hair development require no further
evaluation.

Necrotizing enterocolitis should be suspected in an enterally fed, premature

or very-low-birth-weight infant with nonspecific apnea, lethargy, and
abdominal distension. Pneumatosis intestinalis on abdominal x-ray is
diagnostic.

A congenital melanocytic nevus presents within the first few months of life as
isolated hyperpigmented patches with an increased density of hair follicles.

Hemolytic uremic syndrome (HUS): recent diarrheal illness  acute renal

injury, thrombocytopenia, and microangiopathic hemolytic anemia with
schistocytes on peripheral smear.

Apnea of prematurity is caused by immature central respiratory centers and

presents with respiratory pauses, often with bradycardia and desaturation.
Treatment involves noninvasive ventilation and caffeine.

Tularemia: Purulent conjunctivitis and suppurative preauricular

lymphadenitis, G- coccobacillus, wild animals and tick bites

Yersinia: fleas from rodents and wild animals, hunting/trapping, painful

suppurative lymphadenitis, but ocular manifestations are uncommon

Straining infant: if all nortmal  reassurance and observation

Ill appearing  Hirschsprung, CF, spinal dysraphism, HoTh

Normal consistency  normal infant dyschezia

Hard pellet like - functional constipation (+/- anal fissure)

Loose +/- mucus and blood  food induced protein enterocolitis

Serum sickness–like reaction is most common in children and is typically

triggered by beta-lactam (eg, cefaclor) and sulfa drugs. Symptoms begin 5-
14 days after exposure and include urticarial rash, arthralgia,
lymphadenopathy, and low-grade fever  resolve offending agent

Scarlet fever: sandpaper rash and strawberry tongue

SJS: high fever, sunburn like diffuse rash, hemorrhagic oral lesions

ARF: migratory arthritis (not symmetric) + carditis, and he was tx so

unlikely

Posttransplantation lymphoproliferative disorder is a plasmocytic or lymphoid

proliferation that occurs in those on high-dose immunosuppressive therapy
following transplant. Most cases are due EBV and are marked by
reticuloendothelial manifestations (eg, lymphadenopathy,
hepatosplenomegaly, cytopenias) and elevated EBV titers.  B cell
proliferation and B cell immortalization

Acute otitis media with tympanic membrane (TM) perforation typically

presents with acute otalgia, otorrhea, and an erythematous and perforated
TM. Amoxicillin is first-line therapy; amoxicillin-clavulanate is indicated in
a patient who has received amoxicillin within the past 30 days.

Penicillin allergic  azithromycin or TMP-SMX but [Link] resistant

to macrolides, and GAS resistant to TMP-SMX

Gastroenteritis due to Shiga toxin–producing Escherichia coli begins with

watery diarrhea that becomes bloody (inflammatory diarrhea). Patients are
typically afebrile; the presence of high fever suggests another diagnosis.

C. perf: watery and resolves in 1-2d

E. histolytica: 2 weeks bloody and mucus diarrhea + travel

Intussusception: 6mo-3yr.

Mecks: bloody stool but painless + not dehydration signs (bc not
watery)

Scoliosis red flags: back pain, neuro sx, rapidly progressing curve (>10
degrees/yr), or vertebral anomalies on Xray

Naloxone, an opioid antagonist, should be administered immediately in

patients with respiratory depression from suspected opioid toxicity.
Loperamide, which stimulates mu opioid receptors in the intestines and
reduces peristalsis, can cause opioid-like symptoms (eg, respiratory
depression = <10 RR, altered mental status, miosis = pupils <2mm) in high
doses.

Newborn hydroceles typically present with painless scrotal swelling that

transilluminates on examination. Management includes observation and
reassurance, as most cases resolve spontaneously by age 1 year (if not 
surgical intervention)

Does not transilluminate  US for inguinal hernia

Allergic contact dermatitis is caused by T cell-mediated (delayed, type IV)

hypersensitivity and presents with erythema, edema, and vesicles >12 hours
after contact with the allergen (eg, poison ivy, nickel).
sudden onset of psychosis in a child or adolescent is rare, and it is important
to search for potentially reversible conditions such as medical disorders or
substance use. Common medical conditions to rule out include systemic
lupus erythematosus, thyroiditis, metabolic or electrolyte disorders, CNS
infection, and epilepsy.

Thyroiditis – would have elevated TSH

Amphetamines – do not cause psychosis

Primary psych Dx – unlikely due to physical medical s/s

Turner syndrome should be suspected in a girl with short stature and

dysmorphic features (eg, short metacarpals). Treatment includes
recombinant growth hormone to maximize linear growth potential.

Anemia of prematurity, the most common cause of anemia in preterm

infants, results from impaired EPO production  normocytic, normochromic
anemia with minimal reticulocyte response.

Hereditary spherocytosis (HS) is a genetic defect in red blood cell (RBC)

membrane proteins that results in sphere-shaped RBCs. HS should be
suspected in a patient with jaundice, splenomegaly, and a family history
suggestive of hemolytic anemia requiring splenectomy (following URI).
Laboratory findings include elevated reticulocytes and mean corpuscular
hemoglobin concentration and negative direct Coombs test.

Symmetric genu varum, or bowed legs, is typically physiologic from birth and
resolves by age 2. Management is reassurance and observation.

acute iron poisoning: have abdominal pain, diarrhea, and hematemesis; in

addition, they may develop hypovolemic shock within a few hours due to
gastrointestinal losses. Laboratory evaluation reveals an anion gap
metabolic acidosis, and x-ray may show radiopaque tablets.

Intussusception presents in children age 6-36 months with periodic

abdominal pain. A target sign on ultrasound should prompt reduction with
air or water-soluble contrast enema.

OTC cough/cold meds  halluciantions

Tricuspid valve atresia is a cyanotic congenital heart defect characterized by

absent communication between the right heart chambers. Findings include
tall P waves (right atrial enlargement) and left axis deviation (left-sided
volume overload) on ECG and decreased pulmonary markings on chest
x-ray (hypoplasia of right ventricle and pulmonary outflow tract).

ASD and VSD – cyanosis later

Spontaneous tumor lysis syndrome can occur in patients who have

hematologic malignancies with high tumor burden or rapid replication rate.
It typically presents with acute kidney injury due to the formation of uric acid
and calcium-phosphate stones and/or complications (eg, cardiac arrhythmia)
from hyperkalemia.

Osteogenesis imperfecta is an autosomal dominant connective tissue

disorder caused by mutations in the type I collagen (COL1A1) gene. Patients
typically present with recurrent fractures, joint hypermobility, short stature,
and hearing loss.

Tuberculosis meningitis is a rare but serious complication of primary TB

infection due to the hematogenous spread of mycobacteria to the
subarachnoid space. The onset is gradual, with weeks of nonspecific
symptoms before rapid progression to fulminant meningitis. Cerebrospinal
fluid analysis shows lymphocytic pleocytosis, high protein, and low glucose.

Reactive attachment disorder occurs in the context of early abuse or neglect

and is characterized by emotional withdrawal and a lack of seeking or
responding to comfort from caregivers. Unexplained irritability, fear, or
aggression may occur even during safe encounters.

Disinhibited social engagement disorder (DSED) is another possible

outcome of severe neglect or abuse. Unlike RAD, where children are
emotionally distant, children with DSED display overfamiliarity (even
with adults they do not know) and a lack of appropriate boundary
setting.

Oppositional defiant disorder is characterized by deliberately

disobedient and hostile behavior— often vindictive in nature— toward
authority figures. It would not explain this child's social withdrawal
from both peers and adults, indifference to praise, and lack of response
to comfort.

Nonspecific signs of congenital infection include jaundice,

hepatosplenomegaly, and symmetric growth restriction. Specific findings
highly suggestive of congenital syphilis include snuffles (copious rhinorrhea)
and a maculopapular or bullous rash that may desquamate.
WAGR syndrome/11p deletion syndrome is characterized by a predisposition
to Wilms tumor and the presence of Aniridia, Genitourinary abnormalities,
and a Range of developmental delays. WAGR syndrome should be
considered in a child with ≥2 of these conditions, and serial screening
abdominal ultrasonography is performed for early detection of Wilms tumor.

Wilms tumor is the most common renal malignancy in children.

Although it usually presents as an asymptomatic abdominal mass,
hematuria may occur in up to one-fourth of patients. Abdominal pain
and hypertension may also be present.

Not common in the neonatal period, and not associated with potter

Posterior urethral valves are the most common cause of urinary tract
obstruction in newborn boys. Oligohydramnios from urinary obstruction can
lead to Potter sequence, which is characterized by pulmonary
hypoplasia, flat facies, and limb deformities.

Nonbullous impetigo is characterized by papules and pustules with overlying

honey-colored crusting. Topical antibiotics (eg, mupirocin) are the treatment
of choice for localized infection.

Glucose-6-phosphate dehydrogenase deficiency is an X-linked disorder

associated with episodes of hemolytic anemia during oxidative stress. In
order to prevent hemolysis, oxidative medications such as nitrofurantoin,
dapsone, etc. should be avoided.

Most acute-onset, nonbloody diarrhea is due to viral gastroenteritis and

resolves within 2-3 days; the diagnosis is clinical, and additional workup is
not typically required. Management is fluid repletion and depends on volume
status; oral rehydration is indicated for mild to moderate dehydration,
whereas intravenous fluids are required for severe dehydration. Antiemetics
can be considered, and a regular diet can be resumed when tolerated.

Nonbloody  viral

Malaria should be suspected in any ill patients, especially those with a

history of febrile paroxysms, who have traveled to an endemic-tropical
region. Thick and thin blood smears should be ordered for parasite
detection and quantification. Nonimmune children are at highest risk of
death, but the sickle cell trait confers some protection from severe
complications.
ASD: Preference for solitary play, restricted interests, and repetitive
behaviors are suggestive of autism spectrum disorder. Variable degrees of
language and intellectual impairment may be present.

Although this patient engages in hand-biting, he does not display other

characteristic features typical of Lesch-Nyhan syndrome, including
motor dysfunction (eg, dystonia, spasticity, writhing movements),
nephrolithiasis, or gout.

Tethered cord: Closed spinal dysraphism can present with signs of tethered
cord, including bladder dysfunction and neurologic deficits (eg, weakness,
hyporeflexia, abnormal gait). Foot deformities (eg, pes cavus, hammer toe)
are common.

Dehydration: Moderate to severe dehydration in children should be treated

with an intravenous bolus of isotonic fluid.

Dextrose – not initial, added as maintenance

½ or ¼ (hypotonic) - do not use for fluid resuscitation

Epiglottitis is most commonly due to Haemophilus influenzae type b, and

incompletely vaccinated individuals are at the highest risk. Manifestations
include rapid onset of fever, sore throat, muffled voice, drooling, and stridor.
[sitting with chin thrust forward]

Pneumothorax risk is increased in premature neonates, particularly those

with respiratory distress syndrome who are receiving mechanical ventilation.
Transillumination reveals increased brightness on the affected side.
Hemodynamic instability or signs of tension pneumothorax (eg, mediastinal
shift) warrant emergency needle thoracostomy.

Purpura is a late manifestation of meningococcal meningitis and suggests

disseminated intravascular coagulation (DIC), which is characterized by
clotting factor and platelet consumption. Laboratory evidence of DIC
includes thrombocytopenia, elevated PT and PTT, and low fibrinogen.

Acute poststreptococcal glomerulonephritis, a complication of group

A Streptococcus infection (eg, pharyngitis), typically presents with
hematuria, edema, and hypertension. Management is mainly supportive.
Complications of volume overload (eg, hypertension, edema) require
treatment with loop diuretics.

WEEKS after [IgA is eArly]

HUS: Preterm newborns are at increased risk of developing intraventricular
hemorrhage (IVH) due to the presence of the germinal matrix, a fragile,
highly vascularized area in the brain. Because IVH can be asymptomatic, all
preterm neonates born at <32 weeks gestation require screening head
ultrasound.

MC heart defect in Down’s  complete AV septal defect: heart failure in early

infancy, a fixed split S2, and a systolic ejection murmur due to increased
pulmonary flow from the atrial septal defect.

Hirschsprung disease is characterized by an aganglionic colonic segment. A

short affected segment can cause chronic refractory constipation and poor
growth in young children, and expulsion of gas and stool on rectal
examination is classic. Evaluation includes a contrast enema, which reveals
a transition zone between a distal, narrowed aganglionic segment and a
proximally dilated colon.

Gastroenteritis caused by Shigella sonnei presents acutely with high fever,

abdominal cramping, and mucoid and/or bloody diarrhea. It may be
associated with seizures in children.

Group B Streptococcus is the most common cause of neonatal sepsis and

meningitis. Prevention of early-onset infection includes maternal screening
before delivery and intrapartum antibiotic prophylaxis, but these measures
do not decrease the risk of late-onset (age >1 week) infection.

Infants of diabetic mothers are at increased risk for transient hypertrophic

cardiomyopathy with dynamic left ventricular outflow tract obstruction
(LVOT). Management includes beta blockers (eg, propranolol), which reduce
LVOT obstruction by increasing LV filling time and end-diastolic volume (due
to reduction in heart rate) and decreasing the pressure gradient between the
LVOT and aorta (due to reduction in contractility).  propranolol

Newborns who do not receive intramuscular vitamin K are at risk of vitamin K

deficiency bleeding, which presents with easy bruising or bleeding, including
intracranial hemorrhage (ICH). ICH can cause obstructive hydrocephalus,
leading to a bulging fontanelle, upward gaze impairment, and signs of
increased intracranial pressure (eg, irritability, vomiting, bradycardia,
hypertension).

Precocious puberty is the onset of secondary sexual characteristics before

age 8 in girls and age 9 in boys. Initial evaluation includes obtaining a bone
age evaluation to assess skeletal maturation.
Congenital adrenal hyperplasia is most commonly due to 21-hydroxylase
deficiency, which results in decreased cortisol and increased 17-
hydroxyprogesterone and androgen production. Excess androgen leads to
virilization (eg, underdeveloped phallus, hypospadias) in female (46,XX)
infants.

Congenital lymphedema occurs due to dysgenesis of the lymphatic system

and presents in infants with nonpitting carpal and pedal edema. Turner
syndrome should be suspected in an infant girl with congenital lymphedema,
webbed neck, and dysplastic nails; loss of an X chromosome on karyotype is
diagnostic.

A branchial cleft cyst is a congenital neck mass that often presents in later
childhood after an upper respiratory tract infection. It is typically located
inferior to the mandible and anterior to the sternocleidomastoid muscle

TDC would be midline

Thelarche (typically the first sign of puberty) is normal in girls age ≥8 and is
characterized by firm, often tender, breast buds posterior to the nipple.
Breast buds can be unilateral in the early stages of puberty.

18 mo = walk on their own (if not, gross motor delay)

Leukocyte adhesion deficiency presents with recurrent, nonpurulent skin and

mucosal bacterial infections, as well as severe periodontal disease. Marked
leukocytosis with a neutrophil predominance is common.

Balanitis (ie, inflammation of the glans penis) is common in uncircumcised

toddlers and preschoolers due to poor genital hygiene. Candida
albicans infection should be considered when thick, white discharge is
present, and budding yeast on potassium hydroxide microscopy confirms the
diagnosis. Treatment includes proper hygiene and a topical antifungal

Short stature, amenorrhea, and aortic coarctation are features of Turner

syndrome. Patients are at increased risk for osteoporotic fracture due to
estrogen deficiency from ovarian dysgenesis.

Signs of increased intracranial pressure (eg, irritability, vomiting, lethargy) in

patients with a ventriculoperitoneal shunt should prompt urgent evaluation
for shunt complications (eg, infection, malfunction), including neurologic
evaluation, CT scan of the head, and shunt series x-rays.

Physical features of fragile X syndrome can include a long face, prominent

chin and forehead, protruding ears, joint hypermobility, and macrocephaly.
Associated developmental delays and attention deficit hyperactivity disorder
are common, but life expectancy is normal.

Fetal growth restriction is defined as an estimated fetal weight <10th

percentile or a birth weight <3rd percentile for gestational age. The fetal
adaptation to uteroplacental insufficiency places infants at risk for
complications at birth, including polycythemia, hypoglycemia, hypothermia,
and hypocalcemia.

Spondylolysis is a defect (eg, fatigue fracture) of the pars interarticularis that

is commonly seen in young athletes. It is diagnosed on anteroposterior and
lateral x-rays of the lumbar spine, which are obtained if low back pain
persists for 2-4 weeks. Treatment includes activity reduction (eg, cessation
of sports) for 90 days.

A venous hum is a benign, continuous murmur best heard over the clavicular
area in children. Because it is caused by turbulent flow through the
physiologic curvature of the jugular or subclavian veins, it decreases in
intensity with jugular venous compression (eg, ipsilateral neck rotation) and
supine positioning.

Rubella is a mild illness that presents with low-grade fever, a maculopapular

rash with cephalocaudal spread, and posterior auricular and suboccipital
lymphadenopathy. Adolescents and adults, especially females, may also
have arthralgia and/or arthritis that can persist after the rash resolves.

Acute, atraumatic hip pain in children is typically caused by transient

synovitis, which presents in well-appearing children who are often afebrile
and able to ambulate. However, patients with features concerning for septic
arthritis (eg, inability to ambulate, leukocytosis) require bilateral hip
ultrasound, with or without arthrocentesis, to distinguish between the
conditions.

Infantile hypertrophic pyloric stenosis is characterized by nonbilious,

projectile vomiting after feeds and hypochloremic, hypokalemic metabolic
alkalosis. Treatment first involves intravenous hydration and repletion of
electrolytes, followed by pyloromyotomy.

Mumps presents with fever and parotitis. Although mumps is generally self-
limited, complications can include orchitis, aseptic meningitis, pancreatitis,
and deafness. Complications are more common in older or unvaccinated
individuals.
Risk factors for developing acute otitis media include young age (6-18
months), lack of breastfeeding, day care attendance, and passive smoke
exposure.

A large thymic silhouette is a normal finding on frontal chest x-ray in children

age <3 because it is relatively large compared to the small thorax. The
thymus normally atrophies after puberty. Therefore, opacities in this location
in adults raise concern for a pathologic cause (eg, lymphoma, germ cell
tumor).

Acute lymphoblastic leukemia should be considered in an adolescent patient

with an anterior mediastinal mass in addition to pancytopenia,
hepatosplenomegaly, and testicular enlargement. Presentation often relates
to compression of mediastinal structures, such as superior vena cava
syndrome causing jugular venous distension and difficulty breathing/cough.

Acute myeloid leukemia (AML) can present with hepatosplenomegaly

and pancytopenia. However, compared to AML, ALL is a much more
likely diagnosis in children. In addition, mediastinal involvement with
subsequent SVC syndrome would be unusual in AML because the
thymus is the site of T lymphocyte (rather than myeloid cell)
proliferation; and testicular enlargement is not typical of AML.

Hereditary spherocytosis, caused by a defect of red blood cell membrane

proteins, often presents with refractory jaundice and splenomegaly on
examination and laboratory evidence of a hemolytic anemia with an
increased mean corpuscular hemoglobin concentration.

Isoimmune hemolytic disease of the newborn (eg, ABO incompatibility)

and autoimmune hemolytic anemia can cause anemia, reticulocytosis,
and indirect hyperbilirubinemia. However, antibody-mediated
hemolysis typically causes a positive direct Coombs test, not seen in
this patient.

Chiari I malformation is characterized by inferior displacement of the

cerebellar tonsils through the foramen magnum, and syringomyelia is a
commonly associated condition. Although frequently asymptomatic,
presentation may occur in adolescence/adulthood with occipital headache
exacerbated by activity and Valsalva maneuvers.

Duchenne muscular dystrophy should be suspected in a toddler boy with

weakness, delayed walking, and calf pseudohypertrophy. Absent dystrophin
in cardiac muscle can lead to dilated cardiomyopathy and arrythmias, and
screening echocardiogram and ECG are required.

Neuroblastoma is a childhood malignancy derived from primitive

sympathetic ganglia. Classic presentation includes an abdominal mass and
systemic symptoms (eg, weight loss). Other characteristic features include
periorbital ecchymoses (ie, orbital metastases) and opsoclonus-myoclonus
syndrome.

Autism spectrum disorder (ASD) should be suspected in a child with poor

social communication and restrictive, repetitive behaviors. Language delay
is often also present. A patient with suspected ASD requires a detailed
diagnostic assessment as soon as possible because early intervention can
improve outcomes.

Microcephaly (head circumference <3rd percentile) is usually benign in

children with normal development and an otherwise normal examination.
Benign familial microcephaly is a common cause, and measuring the parents'
head circumferences supports the diagnosis when adult head size is similarly
small.

Psychogenic pseudosyncope is a type of conversion disorder characterized

by an apparent loss of consciousness without impaired cerebral perfusion.
Prolonged duration of unconsciousness, absence of objective physical
findings, and high frequency of episodes are common.

In an infant with meningococcemia, watch out for Waterhouse-Friderichsen

syndrome, which is characterized by a sudden vasomotor collapse and skin
rash due to adrenal hemorrhage.

Among patients with meningitis, a viral etiology is suggested when

cerebrospinal fluid analysis reveals a mildly elevated white blood cell count
and protein level and normal glucose concentration. Mumps virus is capable
of causing viral meningitis in unvaccinated individuals.

Bacterial meningitis presents with marked pleocytosis, low glucose,

and high protein on cerebrospinal fluid analysis, making it
unlikely. Listeria meningitis can cause normal CSF glucose but
generally presents in neonates or older adults; it would be an unlikely
pathogen in this 18-month-old patient.

Hirschsprung disease typically presents in neonates with decreased stooling,

increased rectal tone, and signs of intestinal obstruction (eg, bilious emesis,
abdominal distension, dilated bowel loops). Contrast enema is performed to
identify the level of obstruction.

Diabetic ketoacidosis (DKA) presents with polyuria, abdominal pain, and

fatigue and is often precipitated by infection. Laboratory results
demonstrate hyperglycemia and an anion gap metabolic acidosis. DKA is
characterized by an osmotic diuresis that reduces total body potassium even
though serum potassium may be normal or elevated.

Transfusion-associated circulatory overload can occur when a large volume of

blood product is rapidly transfused, particularly in children age <3 with
chronic anemia. Signs include respiratory distress, hypertension,
tachycardia, and pulmonary edema within 6 hours of transfusion initiation.
Management includes diuresis (eg, furosemide).

Lactation failure jaundice (insufficient breast milk intake) manifests as

unconjugated hyperbilirubinemia and dehydration (eg, excessive weight loss,
inadequate urine output) in the first week of life. Decreased elimination
leads to inadequate bilirubin excretion and increased enterohepatic
circulation.

Chronic suppurative otitis media is often preceded by an episode of acute

otitis media and is defined as chronic (>6 weeks), purulent otorrhea with
tympanic membrane perforation. Treatment is an ototopical fluoroquinolone
to target the most common pathogens, Staphylococcus
aureus and Pseudomonas aeruginosa.

When ≥2 magnets are ingested and identified in the esophagus or stomach,

immediate endoscopic removal is required, even in asymptomatic patients,
to prevent bowel entrapment, necrosis, and perforation.

Patients with structural airway disease, especially cystic fibrosis and asthma,
are susceptible to allergic bronchopulmonary aspergillosis (ABPA). Allergic
sensitization to Aspergillus spores is signified by high levels of circulating
IgE. ABPA must be suspected when lung function declines without
explanation, or persistent lower respiratory infection symptoms occur despite
adequate antibiotic therapy.

Absence seizures typically occur in children age 4-10 and are characterized
by <20-second episodes of impaired concentration (eg, pause, blank stare)
with preserved postural tone. Electroencephalography shows generalized 3-
Hz spike-wave activity, and ethosuximide is the first-line treatment.
The presence of gamma tetramers (hemoglobin Barts) on hemoglobin
analysis is consistent with alpha-thalassemia. Laboratory studies typically
reveal a microcytic anemia, an elevated erythrocyte count, and target cells
on peripheral smear.

Minimal change disease is the most common cause of nephrotic syndrome in

children. Pathogenesis involves cytokine-induced glomerular injury, which
damages epithelial podocytes, leading to a massive urinary loss of protein,
hypoalbuminemia, and edema.

Leukocyte adhesion deficiency is due to a defect in CD18 antigen on

neutrophils, which leads to impaired neutrophil migration. Patients have
recurrent, nonpurulent skin and mucosal infections; impaired wound healing;
and leukocytosis with neutrophilia.

Symptoms of orbital cellulitis include proptosis, ophthalmoplegia, and visual

changes. Bacterial sinusitis is the most common predisposing factor for
orbital cellulitis.

Multiple endocrine neoplasia type 2B (MEN2B) is characterized by medullary

thyroid cancer (MTC), pheochromocytoma, marfanoid habitus, and mucosal
neuromas. MTC associated with MEN2B is often very aggressive, and
thyroidectomy is often recommended in infancy.

Biliary atresia is characterized by fibrotic obliteration of the extrahepatic bile

duct and presents at age 2-8 weeks with direct hyperbilirubinemia (eg,
jaundice, acholic stools, dark urine). Liver biopsy should be performed in all
patients with suspected biliary atresia; it shows intrahepatic bile duct
proliferation and portal tract inflammation.

Hydrocephalus should be suspected in infants with rapidly increasing head

circumference and signs of increased intracranial pressure (eg, full
fontanelle). The first step in evaluation is ultrasonography (if fontanelle is
open) of the head or MRI.

Eczema herpeticum is a potentially fatal cutaneous herpes simplex virus

infection associated with atopic dermatitis. The classic presentation includes
systemic symptoms (eg, fever, lymphadenopathy) and painful vesicles with
punched-out erosions and hemorrhagic crusts.

Intussusception is an abdominal emergency. Affected patients have episodes

of inconsolable crying, with legs drawn to the abdomen due to pain, followed
by asymptomatic periods. Abdominal ultrasound is diagnostic and reveals a
target sign, which represents a bowel segment telescoping into another.

Choanal atresia is a congenital obstruction of the posterior nasopharynx.

Because neonates are obligate nasal breathers, bilateral choanal atresia
presents with cyanosis that worsens during feeding and improves when
crying. The diagnosis is supported if a small catheter cannot be passed from
the nares into the oropharynx.
Primary amenorrhea is the absence of menarche in girls age ≥13 with no
secondary sexual characteristics. In patients with a uterus, the best next
step is an FSH level, which distinguishes between central (low/normal FSH)
and peripheral (high FSH) causes of amenorrhea.