• acute cerebellar ataxic (post-viral cerebellitis)
• autoimmune response to virus (varicella, coxsackie, echovirus).
• ataxia, nystagmus, dysarthria, vomiting.

Lange p. 16 

• extremity malformations: syndactyly (fusion of one or more digits) of fingers or toes.
• Occurs in Apert syndrome (autosomal dominant).
• on exam: prominent occiput, broad forehead, absent anterior fontanelle. usually affects the sagittal suture → scaphocephaly (long and narrow skull).

L p. 29, PT p. 246

• chronic synovitis, age of onset < 16 y.o.
• polyarticular form: ≥  5 joints, symmetric, chronic pain and swelling of both large & small joints, systemic features less prominent.
• pauciarticular form: < 5 joints, asymmetric chronic arthritis of large weight-bearing joints, iridocyclitis (aka uveitis - inflammations of iris and anterior chamber, tx w/ corticosteroids) → blindness.
• Systemic form: fever, rash (salmon-pink macular rash), arthritis, hepatosplenomegaly, leukocytosis, and polyserositis.

FA-Peds p. 337

• total anomolous pulmonary return w/ obstruction of veins.
• pulmonary veins drain into right atrium → shunt to left atrium via patent foramen ovale.
• cyanosis from right to left shunt & pulmonary venous congestion  → pulmonary edema.

L p. 30

• barium enema (lower GI series) or air contrast barium enema; must perform w/ surgical backup b/c of danger of performation!
• occurs most commonly during the 2nd half of the first year of life.
• intermittent abdominal pain & vomiting.
• mild fever & leukocytosis are common features.
• very often sausage shaped mass can be palpated on exam.
• currant jelly stool.
• causes: although most are idiopathic, Meckels diverticulum or polyp can serve as a lead point.

L p. 30, PT p. 191, 192

• right-to-left shunt (cyanotic congenital heart disease); skips filtration by mØ in the lung.
• cystic fibrosis
• immunodeficiency
• otitis media
• mastoiditis
• appears as ring-enhancing lesion on brain imaging.
• common cause of brain abscess is Citrobacter koseri; gram negative enteric rod transmitted from mom at birth.

L p. 30, Kap q. m001036

• sickle cell disease
• dactylitis (painful inflammation of finger or toe).
• in sickle cell disease consider folate deficiency secondary to rapid RBC turnover; macrocytic anemia.

L p. 31

• reliance on cow's milk
• ↓ iron & not well absorbed.

L p. 31

• newborn should pass meconium within 48 hours of birth.
• any delay in passage of stool in a full-term baby → think Hirschsprung disease.
• HD may be recognized early in life or may go undetected if only a short segment is affected; cardinal symptom is constipation.
• screening test is anorectal manometry.
• meconium ileus in CF → vomiting, abdominal distension, failure to pass meconium.

L p. 32, Kap q. s2s043m

• WAGR
• wilm's tumor, aniridia (absence of iris), genitourinary anomalies, MR; also hemihypertrophy.
• renal US every 4-6 months to screen for Wilm's tumor; nephroblastoma; will NOT cross midline.
• May present with hematamesis, possible lung metastasis, can be bilateral.
• Wilm's tumor occurs from deletion of gene on chrom 11.

L p. 33, PT p. 110, Kap q. Q0412m

• β-hexosaminidase A deficiency in WBC
• cherry red spot on retina, loss of developmental milestones (neurodegenerative disease), ↑ startle response 2° to hyperacusis.
• hepatosplenomegaly is Neimann-Pick.

L p. 33, PT p. 247

• WAITER
• WA - wiskott aldrich
• immunodeficiency (↑ IgE, IgA; ↓ IgM)
• thrombocytopenia/purpura (small platelets as well; both are due to ↓ platelet production).
• eczema (atopic dermatitis)
• recurrent pyogenic infection
• ↑ risk of lymphoma & ALL
• X-linked recessive defect

FA p. 238, UW4847

• from neural crest cells, due to N-myconcogene; it is a neuroendocrine tumor.
• most commonly originates in the adrenal glands, but also nerve tissue in neck, chest, abdomen, and pelvis.
• one of few malignancies that can spontaneously regress.
• presents with bluish skin nodules, periorbital proptosis and periorbital ecchymosis.
• metastasis to bone (long, skull, orbital, bone marrow, LN, liver, skin) → bone pain.
• tends to encase and surround abdominal structures.
• usually crosses the midline.
• ↑ urine homovanillic acid (HVA) and vanillylmandelic acid (VMA) in 95% of cases.
• iodine-131-meta-iodobenzylguanidine (MIBG) scan shows ↑ uptake by mass.

Kap Peds p. 221, q. m000289

• thrombocytopenia
• thrombocytopenia absent radius (TAR) syndrome.
• accompanying cardiac lesions include: tetralogy of Fallot and ASD.

L p. 36, PT p. 136

• bacterial peritonitis (↑ susceptibility to infections).
• remember minimal change disease is a nephrotic syndrome.
• no hematuria or abnormal sediment
• tx: prednisone
• ↓ serum albumin, ↑ serum globulin

L p. 36, Kap q. s2s350m, UW 4018

• past hx of endocarditis
• prosthetic valve
• heart transplant
• severe congenital heart defects
• repaired congenital heart defects

PT p. 37

• 1-5 weeks after group A strep pharyngitis.
• J♥NES - joints (painful migratory polyarthritis, swollen, can have fever, heals w/o deforming), pancarditis (valvular damage [vegetation & fibrosis]), nodules (subQ on extensor surfaces), erythema marginatum (serpiginous skin rash), sydenhan chorea.
• arthralgia is most common (minor criteria).
• ↑ ASO titers, anti-DNase B, and antihyaluronidase
• type II hypersensitivity
• tx of GAS w/ penicillin prevents rheumatic fever; however, will not prevent post-streptococcal glomerulonephritis.
• tx rheumatic fever w/ penicillin; use aspirin for arthritis.

FA p. 302, PT p. 128, Kap q. Q0693

• it is an idiopathic acute vasculitis of small blood vessels; usually following an URI.
• palpable purpura (buttocks & lower extremities).
• arthritis
• colicky abdominal pain, vomiting, melena.
• acute scrotal pain; scrotal swelling.
• can develop chronic nephritis (hematuria).
• ↑ risk for intussusception
• ↑ complement & mesangial deposition of IgA.

PT p. 38, 226, UW 4279

• genu varum (bowlegs; straddle barrel of rum); improves spontaneously by age 2.
• blount disease - abnormality in medial aspect of proximal tibial epiphysis (3 forms: infantile, juvenile, adolescent).
• radiographically - prominent step abnormality w/ beaking at proximal tibial epiphysis.
• blount disease must be treated aggressively; bracing, even possible surgery.

PT p. 40

• Form 1: brief shrill cry followed by a prolonged expiration and apnea → cyanotic spell.
• occurs predictably upon upsetting or scolding child (peak at age 2 and resolve by age 5).
• tx - avoid reinforcing behavior.
• Form 2: pallid (pallor) breath-holding spells; usually caused by painful experience → child holds breath → LOC → become pale & hypotonic → brief tonic episode (not seizure!).
• Also cyanotic and complicated types; complicated is a more severe form of pallid or cyanotic with seizure-like activity.
• tx - avoid reinforcement; may be associated with iron deficiency anemia so check Fe levels.

PT p. 40, UW 4872

• fasting glucose ≥ 126 mg/dl.
• 2-hour plasma glucose after oral glucose tolerance test ≥ 200 mg/dl.
• random plasma glucose ≥ 200 mg/dl.
• impaired glucose tolerance is fasting glucose btw 100 and 125 mg/dl; 2-hour btw 140 and 200 mg/dl.

PT p. 41 

• stress reaction in area of insertion of patellar tendon into tibial tubercle → anterior knee pain.
• it is an traction apophysitis.
• on X-ray tubercle may be lifted from shaft or fragmentation of the tubercle.
• common in adolescent athletes.
• swelling, tenderness, and ↑ size of tibial tuberosity.
• tx - rest.
• stress fractures on the other hand usually presents with pain in the shins.

PT p. 43, Kap Q0676m, UW 4849

• laryngotracheobronchitis
• steeple sign on CXR
• barking cough, stridor, and hoarseness.
• tx - single dose of steroids; in severe cases racemic epinephrine.
• causes: bacterial - Corynebacteria diphtheria (grey membrane), Staph aureus, Strep pneumoniae, H. influenzae, Moraxella catarrhalis; viral - parainfluenza, RSV, influenza A & B, measles, adenovirus.  

• Bordatella pertussis
• characteristic symptoms: 3 stages: 1) catarrhal - rhinitis, sneezing, irritative cough [1-3 weeks]; 2) paroxysmal - parox coughing (10-30 forceful coughs ending in loud inspiratory whoop, vomiting commonly follows paroxysm, cyanosis, sweating, and exhaustion [lasts 2-6 weeks]; 3) convalescence - irritative chronic cough that lasts for several weeks or even months. 
• on the other hand epiglottitis is caused by: Hib, Strep pneumo, Staph aureus, GAS; positive thumb sign.

Kap q. MB000075

• DTaP (diphtheria, tetanus toxoid, acellular pertussis); routinely recommended in children.
• Tdap (tetanus toxoid, reduced diptheria toxoid, acellular pertussis); single booster at 11-12 years old.
• Td (tetanus toxoid and reduced diphtheria toxoid); for life every 10 years.
• Tetanus Ig is administered in only 1 scenario (<3 tetanus toxoid doses or unknown AND wound is dirty). If the patient has received ≥ 3 doses AND the wound is dirty AND it has been ≥ 5 years since last tetanus shot → administer tetanus toxoid.
• diphtheria → lymphadenopathy and "bull neck" appearance.
• If DTaP is administered and patient experiences an adverse rxn, administration of next series of DTaP should occur without acellular pertussis (i.e. only administer DT); pertussis is generally the cause of adverse rxns.

UptoDate, PT p. 276, UW 4258

• Cutis Aplasia; can be associated with many conditions.
• Trisomy 13 (Patau Syndrome)
• microcephaly, microphthalmia (small eyes), variety of cardiac features, holoprosencephaly, cleft lip/palate, polydactyly, coloboma (hole in one of the structures of the eye - iris, retina, choroid), rocker bottom feet.
• normal α-fetoprotein, β-hCG, estriol, and inhibin A.
• Edwards (trisomy 18) - clenched hands, absent palmar creases, low set ears, micrognathia, VSD; ↓ α-fetoprotein, ↓ β-hCG, ↓ estriol

PT p. 51, UW 2468

• isolated B₂ deficiency is rare, but can occur b/c of poor intake, reduced absorption in patients with biliary atresia or hepatitis, or poor absorption in those receiving probenecid, phenothiazine, or oral contraceptives.
• cheilosis (fissuring & dry scaling of lips and angles of mouth), glossitis, keratitis, conjunctivitis, corneal vascularization, and seborrheic dermatitis.

PT p. 54

• vitamin B₆ (pyridoxine) deficiency
• also can cause seizures, peripheral neuritis, dermatitis.

PT p. 54

• deletion of part of chrom 15 (q1-q13) from maternal side; paternal deletion → Prader-Willi.
• unusual gait, large mouth w/ tongue protrusion, hypopigmentation w/ blond hair and pale blue eyes.
• unprovoked bursts of laughter.
• bizarre movements
• seizures
• example of genomic imprinting.

PT p. 54, 358

• Profound MR
• self-injurious behavior
• hypersensitivity to sound
• repetitive behaviors
• round facies, hypotonia, high arched palate, wide & flat nasal bridge.
• deletion of short arm of chrom 5

PT p. 55, UW 2489

VACTER

CHARGE

• vertebral defect
• anal atresia
• cardiovascular abnormalities
• tracheoesophageal fistula
• renal/radial defect
• limb abnormalities
• normal intelligence.

1. Colobomas
2. Heart Defects
3. Choanal Atresia
4. Retardation (growth and/or mental)
5. genitourinary abnormalities
6. ear anomalies

PT p. 55, Kap q. Q0233, Q0478m

• hyperostosis (excess bone growth)
• hepatomegaly
• ↑ CSF pressure (HA and vomiting)
• drying of skin w/ desquamation of palms & soles
• alopecia

PT p. 57

• kidney stone (calcium oxalate)

PT p. 57

• salmon patch (nevus simplex or flameus)
• flat vascular lesion
• lesions on face fade over first few weeks of life, but nuchal and occipital lesion persists.
• no thx indicated

PT p. 52

• erythema toxicum
• idiopathic & benign; self-limited
• rash waxes and wanes over first days to weeks of life

PT p. 56

• fine, yellowish white, 1-2 mm lesions scattered over face & gingivae of neonate.
• they are cysts that contain keratinized material.
• when on palate they are called Epstein pearls.

PT p. 52 

• renal dysgenesis
• oligohydramnios
• skull ossification defect

PT p. 58

• seborrheic dermatitis
• affected areas: eyebrows, nasolabial folds, base of eyelashes, paranasal skin.
• tx: topical steroids or a selenium-sulfide-containing product.

PT p. 58, UW4711

• thrombocytopenia
• rashes
• congenital heart block

PT p. 59

• vitamin K
• lack of free vit K in mother and absence of bacterial intestinal flora.
• Measles - give vitamin A

PT p. 60

• intradermal skin test with Candida albicans → no response.
• associated with DiGeorge syndrome
• CATCH-22 (Cardiac abnormality - tetralogy of Fallot/VSD/interrupted aortic arch, Abnormal facies, thymic aplasia, Cleft palate, Hypocalcemia/Hypoparathyroidism, chrom 22 abnormality.

PT p. 60

• narrowing or blockage of the nasal airway by tissue; it is a congenital condition.
• baby is unable to breathe through nose; therefore, during feeding → cyanosis & apnea.
• spells of crying corrects the problem b/c it forces baby to breath through mouth, otherwise, they are nose breathers.
• NG tube test to raise suspicion, confirm with CT with contrast of head.

PT p. 89, Kap q. Q0478m

• varicella zoster Ig is administered immediately after delivery:
• If mother had onset of chicken pox 5 days prior to delivery
• or if chicken pox started within 2 days after delivery.
• if beyond these time frames nothing needs to be done b/c these babies are at no greater risk of complications than older children.

PT p. 89

• HIV
• active pulmonary TB (may start breastfeeding 2 weeks after anti-tuberculin thx).
• malaria
• typhoid fever
• septicemia
• mothers taking antineoplastic agents
• herpetic breast lesions
• varicella infection (<5 days earlier or 2 days after delivery).

PT p. 90, UW4892

• Differentiates fetal Hb from adult Hb.
• Neonatal melena and hematamesis can occur from gross placental bleeding at time of delivery.
• fetal Hb is alkali resistant.

PT p.91

• usually occurs in premature babies (1 week after birth); it is an infarction of the bowel.
• feeding intolerance and distended abdomen
• 25 % have bloody stool
• hypoxia, acidosis, emesis
• dilated loops of bowel with air in bowel wall (pneumatosis intestinalis) via plain film radiographs; the intramural air can spread to portal venous system.
• cause is unknown (not really infectious); combination of multiple factors: immature GI tract, mucosal injury, immature immune system.
• be suspicious with progressively ↑ gastric residual volume. 
• tx: bowel rest w/ NG tube decompression + systemic abx + serial abdominal films (looking for perforation).
• if perforation results (free air under diaphragm) → surgery.

PT p. 93, 200, Kap q. MB000076, UW 2456

Normal radiograph

PT p. 66

• ↑ metabolic demand → ↑ ventilation
• lactate can accumulate → metabolic acidosis
• infants rarely shiver in response to increase heat production.

PT p. 93

• apnea of prematurity (AOP)
• apnea: cessation of air flow > 20 s, with bradycardia & hypoxemia.
• incompletely developled respiratory center
• this is particularly true in prematurity
• tx: theophylline and caffeine

PT p. 94, Kap q. MB000084

• fracture of the clavicle → pseudoparalysis (mimics Erb-Duschenne palsy).
• fxr may not be apparent at birth; it may take a week before callus forms. Infant will present with a firm mass on clavicle.

PT p. 95

• gonococcal - presents within the first 2-5 days of life.
• chlamydial - presents within the first 5-14 days of life.

PT p. 97

• it is an infant respiratory distress syndrome.
• caused by surfactant deficiency
• the incidence ↑ with ↓ gestational age & birth weight.
• maternal diabetes is a risk factor.
• ↓ lung compliance
• ↓ lung volume
• right-to-left shunt; 2° to ↑ pulmonary pressure b/c lungs haven't expanded yet.
• tachypnea, retractions → distress becomes progressively worse over first few days of life to include grunting, nasal flaring, cyanosis.
• CXR: shows fine reticular granularity.
• tx: antenatal prevention w/ corticosteroids; postnatal w/ surfactant and respiratory support.

PT p. 98, UW 4831

• low birth weight
• edema of dorsum of hands & feet (due to abnormal development of lymphatic network; nonpitting)
• redundant skin folds at nape of neck
• low hairline
• shield chest
• coarctation of aorta
• HTN
• bicuspid aortic valve
• horseshoe kidney

PT p. 98, UW 4764

• remains elevated during inspiration.
• on expiration asymmetry cannot be visualized.
• during inspiration the mediastinum is pulled toward normal side (due to ↑ negative pressure generated by normal diaphragm) → further impairing normal respiration.
• injury to phrenic nerve can occur with injury to brachial plexus.

PT p. 95

• cause growth retardation when given throughout pregnancy.
• diminishes ability of asphyxiated infant to ↑ heart rate and cardiac output.
• also associated with hypoglycemia and apnea.

PT p. 101

• becomes apparent on 2nd or 3rd day of life.
• peaks to no > than 12 mg/dl on 4th or 5th day and disappears by end of week.
• rate of rise is < 5 mg/dl per 24 hours & levels of conjugated bilirubin do not exceed 1 mg/dl.
• jaundice that appears during 1st day of life is usually a feature of hemolysis; accompanied by unconjugated hyperbilirubinemia, reticulocytosis, evidence of RBC destruction on smear.
• occurs b/c of ↑ breakdown of fetal RBCs; result of shortened lifespan of fetal RBC and higher mass of RBC in neonates. Also, hepatic capacity is ↓; ↓ activity of glucuronyl transferase (conjugating enzyme).

PT p. 101

• umbilical hernia
• distended abdomen
• large head & large fontanelles
• hypothermic
• feeding difficulties
• generalized hypotonia
• coarse facial features
• macroglossia
• constipation and jaundice
• bradycardia
• most common cause is thyroid dysgenesis (85% of cases).

PT p. 103, Kap q. s2s347m, UW 3662

↑ α-fetoprotein in amniotic fluid

PT p. 104

• retained fetal lung fluid
• occurs quickly (15 minutes of life)
• tachypnea, retractions, grunting, and sometimes cyanosis.
• CXR: prominent vascular markings with fluid in the fissures & hyperexpansion (flat diaphragms).
• occurs after vaginal delivery, but especially after caesarean delivery.

PT p. 104

• black child: nothing, very common (by 10x), typically familial; just excise.
• white child: careful examination of cardiac system.
• However, preaxial (thumb-side) polydactyly is unusual and should be further investigated.

PT p. 105

• transient change in skin color of an otherwise asymptomatic newborn (usually preterm).
• dependent side of entire body turns red while upper side remains pale.

PT p. 106

• hyperviscosity
• respiratory distress
• hyperbilirubinemia
• ↑ fetal RBC breakdown → ↑ phosphate → hypocalcemia
• renal vein thrombosis
• CHF
• seizure/convulsions
• most common cause of polycythemia in a term infant is delayed clamping of umbilical cord resulting in excess transfer of placental blood.

PT p. 106, UW 4819

• Blueberry muffin rash
• IUGR
• cataracts
• microphthalmia
• myocarditis
• PDA
• pulmonary artery stenosis
• septal defects
• highly contagious (isolate babies with Rubella, Syphilis, and CMV).

PT p. 108

• hydrocephalus
• chorioretinitis
• intracranial calcifications

PT p. 108

• purpura or petechiae
• hepatosplenomegaly
• jaundice
• IUGR
• microcephaly
• chorioretinitis
• intracranial calcifications
• sensorineural hearing loss

PT p. 108

• galactose-1-phosphate uridyl transferase
• galactose-1-phosphate accumulates (normally converted to glucose).
• failure to thrive
• jaundice
• hepatomegaly
• infantile cataracts (galacticol accumulates in eye); can reverse with early treatment.
• hypoglycemia → convulsions/seizures.
• MR
• tx: eliminate galactose and lactose (galactose + glucose).
• ↑ risk for neonatal sepsis.
• galactokinase deficiency: cataracts only.

FA p. 109, UW 3193

• cannot metabolize phenylalanine → tyrosine
• buildup of phenylalanie → severe MR
• growth retardation
• seizure
• musty odor
• fair skin, blue eyes
• photosensitive
• eczema

PT p. 110, FA p. 112, Kap q. s2s295m

• boot shaped heart (apex lifted off diaphragm due to RV hypertrophy).
• indicative of tetralogy of Fallot
• overriding aorta (dextroposition of aorta), pulmonary stenosis (right ventricular outflow obstruction), VSD, right ventricular hypertrophy.

PT p. 129, Kap q. Q0281m

• fixed split S2
• does not change with respirations.
• palpable right ventricular systolic lift along the left sternal border.

PT p. 131

• prolonged fever
• erythematous macular exanthem over body
• epidermal peeling on hands & feet
• ocular conjunctivitis
• dry & cracked lips
• oropharyngeal mucosal erythema
• red throat
• cervical lymphadenopathy
• arthritis
• complication: coronary artery aneurysm and thrombosis.
• tx: IV Ig and high-dose aspirin.
• can be confused with GAS (scartlet fever: scarlatiniform rash, desquamation, erythema of mucosal membranes, cervical lymphadenopathy).

PT p. 132, 279

• coxsackievirus B
• adenovirus

PT p. 133

• systolic murmur in pulmonic area.
• middiastolic murmur along lower left sternal border.
• right atrial hypertrophy.
• ventricular block pattern in right chest leads.
• cyanosis and S3 & S4 (quadruple rhythm).

PT p. 133

• juvenile rheumatoid arthritis

PT p. 134

• tricuspid atresia (left axis deviaton on ECG).
• transposition of the great vessels (presents with early cyanosis); cyanosis in tetrology of Fallot is not seen in the first few days of life.

PT p. 135

• Patent ductus arteriosus w/ Prostaglandin E₁.
• Indomethacin Interupts PDA.

PT p. 136

• Noonan syndrome
• occurs in both sexes
• short stature
• downslanting palpebral fissures
• ptosis
• low set malformed ears
• webbed neck
• shield like chest
• cryptorchidism
• pulmonic stenosis

PT p. 136

• transfer of maternal IgG autoAb
• thrombocytopenia, neutropenia, rash, liver dysfxn, congenital heart block (permanent, frequently requires pacing).

PT p. 137

• Idiopathic Pulmonary Hemosiderosis (IPH); pulmonary hemorrhage.
• additional findings: clubbed fingers (suggestive of chronic process), occult blood in stool (from swallowing sputum).
• dx: bronchoalveolar lavage → hemosiderin laden mø.
• Heiner syndrome (distinct subset of IPH with hypersensitivity to cow's mild); d/c milk → improvement.

PT p. 160

• O₂ ↓ respiratory drive in severe OSA (use with caution).
• must be dx w/ polysomnography to exclude other causes of snoring.
• untreated OSA → cor pulmonale.

PT p. 161

• tension pneumothorax
• caused by bacterial toxin production → rupture of alveoli.

PT p. 161

• inspiratory stridor is classic for croup (tx - inhaled epi & oral steroids); most common cause is laryngomalacia (soft immature cartilage of upper larynx collapses inward during inhalation; epiglottis rolling is dx; noise ↑ when supine or crying, and during URI; child should be held upright for 30 minutes after feeding & never feed while lying down; self-limiting and will improve gradually w/ age).
• biphasic should make you consider alternative dx
• if biphasic, but no drooling and dysphagia, think tracheitis (bacterial) → intubate & IV abx.
• biphasic w/ drooling and dysphagia (epiglottitis; commonly caused by GAS, Moraxella, S. pneumo; used to be Hib) → intubate in OR; patient will have nasal flaring, and retractions.

PT p. 161, Kap q. Q0414m, q. MB000074m, UW 2432

• Intermittent - daytime symptoms ≤ 2/week; ≤ 2 nocturnal awakenings/month. tx - PRN β₂-agonist.
• Mild Persistent - symptoms > 2/week, 3-4 nocturnal awakenings/month; tx - low dose daily inhaled glucocorticoid.
• Moderate Persistent - daily symptoms, nocturnal awakenings > 1/ week. tx - low dose of inhaled glucocorticoid & long-acting inhaled β-agonist.
• Severe Persistent - symptoms throughout day, nightly awakenings. tx - medium or high dose  inhaled glucocorticoid & long-acting inhaled β-agonist.
• any grade > intermittent requires glucocorticoid thx!

UpToDate

• allergic response
• symptoms similar to GERD, but does not respond to acid blockade.
• bx reveals eø
• tx w/ corticosteroids and avoidence of specific food allergens.
• some have ↑ IgE or peripheral eø.

PT p. 189

• malrotation of gut w/ volvulus (curly "Q" twist of barium).
• most common is when cecum fails to move to lower right quadrant.
• present in first few weeks of life with bilious vomiting and intermittent abdominal pain.
• tx - surgical.

PT p. 189

• meconium ileus; associated with polyhydramnios.
• virtually pathognomonic for CF
• echogenic bowel on prenatal US
• dilated loops of small bowel
• enema shows microcolon from disuse.
• X-ray shows: dilated small bowel and a granular, ground glass appearance in lower abdomen.
• complications: perforation and meconium peritonitis.

PT p. 190, UW 2466

• ASCA - Crohns (55%), uncommon in UC.
• p-ANCA - UC (70%) and Crohn's (<20%)
• most serious complication of UC is toxic megacolon.
• strictures more common in Crohn's.
• risk of colon cancer is present in Crohn's, but not as ↑ as in UC.
• Crohn's (granulomatous colitis).

PT p. 190, 193

• barium enema and rectal manometry.
• bx of rectum looking for aganglionic mucosa.
• Hirschsprung disease
• no encopresis ≠ functional (ψ) constipation.
• in rectal manometry the normal relaxation of internal rectal sphincter does not occur.

PT p. 191

• occasional gastroesophageal reflux during infancy (physiologic); GERD is pathologic (respiratory symptoms, esophagitis, related apnea, weight loss.
• presents during 1-2 months of life.
• resolves by 1-2 years of age.
• attempt tx w/ smaller feeds, thickened formula, avoiding high-fat meals.
• tx medically only if infant has other problems related to reflux (apnea, bradycardia, or aspiration pneumonia).

PT p. 193, 194

• painless rectal bleeding in the first 2 years of life.
• lining of Meckel diverticulum usually contains acid secreting gastric mucosa → ulcerations of diverticulum or adjacent ileum.
• Bleeding, perforation, or diverticulitis can occur; presentation indistinguishable from acute appendicitis.
• dx w/ 99m technetium scan (labels gastric mucosa).
• Rules of 2: 2% of population, 2x more common in males, found w/in 2 feet of ileocecal valve, 2 inches long, approx 2% develop complications (bowel obstruction, hemorrhage, diverticulitis (22%), umbilical fistula).

PT p. 195, Kap q. m001089

• direct bilirubin > 20% of total bilirubin (total: 12 mg/dl, direct: 3.5 mg/dl).
• In obstructive jaundice consider CF and α₁-antitrypsin.

PT p. 196

• extensive maxillary decay (especially frontal).
• normal mandibular front teeth.

PT p. 198

• etOH
• acids
• ferrous sulfate
• strong bases (drain/oven cleaners)
• cyanide
• lithium
• potassium
• Good For: phenobarbital & TCA.

PT p. 199

• visualization of the swallow reflex.

PT p. 201

• infant arching of back and becoming tonic
• this occurs to protect airway from refluxing gastric contents.
• dx w/ esophageal pH probe.

PT p. 202

• lithium
• methicillin
• rifamipin
• amphotericin

PT p. 218

• proximal RTA (type 2) is caused by a failure of the proximal tubular cells to reabsorb filtered HCO₃^-.
• FS: more generalized dysfunction of proximal tubular cells and includes phosphaturia, glycosuria, aminoaciduria, uricosuria, and tubular proteinemia.
• FS can have both hereditary and acquired causes.
• Hereditary FS: cystinosis, galactosemia, Wilson disease.
• Acquired FS: gentamicin, outdated tetracycline, cephalothin, cidofovir, valproic acid, streptozocin, 6-mercaptopurine, toluene (glue sniffing).

PT p. 219

• phemosis: inability to retract the foreskin; normal up until age 3.
• paraphemosis: painful condition where retracted foreskin gets trapped behind the glans → venous congestion & edema.
• white cheeselike material(cellular debris) arising from foreskin is normal; this occurs as foreskin adhesions detach from the glans.

PT p. 219

• low grade lesions (grade I & II, no dilatation): close observation, daily low-dose abx, UA/culture every 3-4 months.
• grade III: dilatation of ureter and collecting system.
• grade IV: grade III + blunting of calyces.
• grade V (dilatation & tortuosity of uereters): requires surgical reimplantation of ureters.
• If any breakthrough infections occur while on prophylactic abx → surgery (also, if new renal scars are detected).

PT p. 220, Kap q. Q0486m

• lax, wrinkled abdominal wall (absent abdominal muscular tone).
• undescended testes (intrabdominal testes)
• urinary tract anomalies (hydronephrosis and dilated ureters/bladder).
• oligohydramnios
• pulmonary hypoplasia

PT p. 217, 220

• it is in the middle of the spectrum between pyelonephritis and renal abscess.
• patients have prolonged fever curves despite appropriate abx.
• dx: CT → wedge shaped area distinct from normal kidney w/ minimal contrast enhancement.
• tx: prolonged IV and PO abx.

PT p. 221

• raynaud phenomenon (vasospasm) → ↓ blood flow → digital ulceration and gangrene.

PT .p 224

• burning with urination (2° to contact btw raw skin & urine).
• foul-smelling discharge from vagina (usually brown or green in color).
• reddened vulva
• nonspecific vulvovaginitis, aka chemical vulvovaginitis.
• causes: tight-fitting clothing, nylon undergarments, prolonged bubble baths.

PT p. 226

• observe, small hydroceles usually resolve spontaneously in the first year of life.
• if large, may require surgical repair.
• common condition affecting 2% of males.

PT p. 226

• hematuria (microscopic, but can be gross after a URI).
• hearing loss → deafness
• end stage renal failure
• X-linked dominant disorder

PT p. 227

• recurrent gross hematuria
• persistent microscopic hematuria
• dysuria
• abdominal pain
• no initial stone formation; over time stones may form in 15% of cases.

PT p. 228

• aka juxtaglomerular hyperplasia
• hyperreninemia (BP is usually normal)
• hypokalemia
• alkalosis
• hyperaldosteronism
• hypokalemia
• presents btw 6 and 12 months of age with failure to thrive, constipation, weakness, vomiting, polyuria, polydypsia.
• tx: prevent dehydration, provide nutritional support, correct K⁺ level.

PT p. 229

• resembles MS (often difficult to differentiate during first attack).
• follows infections and some immunizations: URI, varicella, mycoplasma, HSV, rubella, rubeola, mumps.
• MRI → disseminated multifocal white matter lesions that enhance w/o contrast.
• tx: high dose corticosteroids.

PT p. 244

• poor growth
• arachnodactyly (fingers are abnormally long or slender).
• osteoporosis
• dislocated lens
• MR
• thromboembolic phenomena can occur → vascular occlusive disease → acute infantile hemiplegia
• homocysteine is converted to methionine (via B₁₂ & methylenet-THF-reductase) or cystathionine → cysteine via cystathionine synthase.

PT p. 245, FA p. 113

• unlike other forms of myopathies distal muscle weakness is the feature of this disease.
• ↑ CK
• ptosis, cataracts, baldness, hypogonadism, facial immobility, psychomotor retardation.
• temporal wasting, thin cheeks, upper lip in an inverted V shape.
• Myotonia or delayed muscle relaxation is a prominent feature of the disease; classically unable to relax grip after handshake. 
• neonatal respiratory distress.
• autosomal dominant

PT p. 248, UW 3661

• common migraine (bifrontal HA w/o aura or diffuse throbbing of only a few hours).
• HA terminated w/ vomiting or sleep.

PT p. 248

• periventricular calcification 2° to congenital CMV infection.
• toxoplasms calcifications are soft appearing and scattered throughout cortex. 

PT p. 254

• Charcot-Marie-Tooth disease; most common hereditary neuropathy.
• CMT-2 is the only axonal motor neuropathy of CMT family; others are primarily demyelinating.
• Hereditary sensory & autonomic neuropathy (HSAN) is a hereditary neuropathy that affects autonomic sensory or motor nerves.

BP p. 165

• Sturge-Weber syndrome
• facial cutaneous angiomas and leptomeningeal angiomas.
• pt may be mentally retarded.
• often exhibits hemiparesis or hemiatrophy on the side opposite the port-wine nevus.
• seizures may develop.

PT p. 54

• carbamazepine, phenytoin, gabapentin
• if pt does not respond to pharmthx → radiofrequency ablation.
• aka trigeminal neuralgia (injury to CN V)
• pain routinely triggered by cold stimuli.
• often associated with MS (aka symptomatic trigeminal neuralgia, b/c symptom of another condition), but also basilar artery aneurysms, acoustic schwannomas, and posterior fossa meningiomas.

PT p. 81, Kap imq42m

• congenital motor neuron disease
• weakness, hypotonia, muscle atrophy
• lethal (weeks to months)
• destruction of anterior horn (LMN) → flaccid paralysis.
• it is one of the spinal muscular atrophies (SMA).

PT p. 220, BP p. 158

• ampicillin plus gentamicin

PT p. 122

• cat-scratch disease
• meningitis in immunocompetent
• encephalitis w/ status epilepticus and bacillary angiomatosis in HIV pts.
• presents initially with regional adenitis (inflammation of lymph node or gland)
• MRI shows ↑ signal intensity in pulvinar (posterior thalamus).

PT p. 124

• pilocytic astrocytoma
• medulloblastomas (arise in cerebellar vermis and grow down into 4th ventricle).
• ependymomas (grows as a mass filling 4th ventricle). 
• cerebellar gliomas
• found infratentorially (posterior fossa)

PT p. 132, Kap s2s353m, Q0146m

• hypothalamic hamartoma
• acromegaly is also possible
• paroxysms of laughter are known as gelastic seizures.

PT p. 135

• after infxn (chicken pox, measles) or vaccine (rabies, small pox).
• examination of the brain reveals damage to small blood vessels and perivascular tissues in the white matter of cerebral hemispheres.
• dx suggested by MRI or CT with rapidly evolving white matter damage w/ ↑ ESR, ↑ CSF pressure w/ ↑ RBC/WBC/protein.
• difficult to differentiate from MS if it is the first MS attack.

PT p. 199, Kap m000690

• adrenoleukodystrophy
• X-linked disorder of ATP-binding transporter in peroxisomal system responsible for long-chain fatty acid metabolism → accumulation of long-chain fatty acid in adrenal cortical cells.
• symptoms of adrenal insufficiency: fatigue, weakness, hypotension, orthostasis, muscle aches, hypoglycemia, confusion, N&V, diarrhea

PT p. 199

• port-wine stain (nevus flammeus)
• ipsilateral leptomeningeal angiomas
• pheochromocytomas
• glaucoma
• seizures
• hemiparesis
• MR
• head CT → calcifications in cerebral cortex in railroad track pattern.
• coarctation of aorta
• aka PHACE

FA p. 467, PT-neuro p. 206, PT p. 259

• H - hamartomas of the skin
• A - adenoma sebaceum (cutaneous angiofibromas, red patches on face containing many blood vessels).
• M - mitral regurgitation
• A - ash leaf spots
• R - cardiac rhabdomyoma
• T - tuberous sclerosis
• O - autOsomal dominant
• M - MR
• A - renal angiomyolipoma
• S - seizures
• also retinal phakomas (gliomatous tumors that require no tx and are principal criterion for making dx of tuberous sclerosis).
• CNS calcifications; calcified subependymal glial nodules; can → obstructive hydrocephalus.
• infantile spasms (may be confused with colic); tx w/ ACTH IM gel (6-8 weeks of tx)

FA p. 467, PT p. 219, 220, Kap m000365m

• cafe-au-lait spots
• lisch nodules (pigmented iris hamartomas)
• neurofibromas in skin (short sessile or pedunculated lesions)
• optic gliomas
• pheochromocytomas, meningiomas
• chrom 17
• macrocephaly, short stature, feeding problems, and learning disabilities.
• bony abnormalities - sphenoid dysplasia, congenital pseudoarthritis, kyphoscoliosis, pathologic fractures.

FA p. 467, PT-neuro p. 275, PT p. 258

• TS has no hepatosplenomegaly
• both have cherry red spot on macula, neurodegenerative disorder.
• TS - hexosaminidase A deficiency → GM₂ accumulation.
• NP - sphingomyelinase def → sphingomyelin accumulation.

FA p. 116

• type I (adult) - cerebellar tonsils extend below foramen magnum; not symptomatic until adults. symptoms are referable to the cerebellum.
• type II - cerebellar anatomy more deranged; small posterior fossa → downward displacement of vermis & medulla below foramen magnum → hydrocephalus and MR; symptomatic at birth of infancy. Also associated with myelomeningocele & syringomyelia.

PT p. 222, Kap Q0257m

• Triad of cerebellar defects (ataxia), spider angiomas (telangiectasias), IgA deficiency.
• poor smooth pursuit of objects with eyes.
• Defect in ATM gene (DNA repair) → ↑ cancer risk (lymphoma, leukemia, radiation sensitivity).

PT p. 238

• psychomotor retardation can be presenting complaint (late walker, clumsy, sluggish). 
• ↑ creatine kinase (esp in preclinical phase)
• neonatal respiratory distress
• in older children, the following:
• problems relaxing grip
• hypersomnolence
• ptosis
• premature baldness
• testicular atrophy
• cataracts
• prominent distal muscle weakness.

PT-neuro p. 232, PT-peds p. 248

• toxic levels → brain edema → ↑ ICP
• chronic: ataxia, tremor, psychomotor retardation, MR.

PT p. 239

• tick paralysis
• removal of tick → remarkable resolution
• rapidity of progression & absence of ↑ CSF protein makes GBS unlikely.
• holycyclotoxin interferes with presynaptic release at the NMJ.

PT p. 242

• Sturge-Weber syndrome
• chromosome 3

PT p. 259

• infection (Gradenigo syndrome)
• it is an osteomyelitis of the petrous pyramid
• abducens & trigeminal nerves are affected as they pass the tip of the petrous bone.
• chronic ear infection may extend to the petrous pyramid.

PT p. 262

• if it extends supratentorially → temporal lobe → wernicke's aphasia (fluent aphasia).
• infratentorially → cerebellum → ataxia, vertigo, N&V, morning HA.
• the lesions are usually abscesses formed by bacteria.

PT p. 274

• it is a non-compressive sciatica
• sciatic nerve injury → foot drop (common peroneal nerve → deep peroneal nerve → anterior tibial muscle); irritation of spinal roots to sciatic nerve can occur with Lyme radiculopathy.

PT p. 306

• spinal cord
• both dorsal and ventral spinocerebellar tracts are involved.
• posterior columns and lateral corticospinal tracts are also involved.
• Chrom 9 (frataxin), recessive
• pes cavus, ataxia, absent jerk reflexes, hammer toes, scoliosis.
• FA is also associated with necrosis and degeneration of cardiac muscle fibers → myocarditis, myocardial fibrosis, and cardiomyopathy.
• Affected neurological tracts are the same as vitamin B₁₂ & E deficiency.

PT-neuro p. 308, UW 2439

• concentric hypertrophic cardiomyopathy; most common cause of death.
• diabetes in 10% of pts.
• cardiac conduction system
• optic atrophy (1° to Friedreich or 2° to DM)

PT-neuro p. 308, UW3985

loss of cells in the dorsal root ganglia → hyporeflexia

PT-neuro p. 309

• postinfectious cerebellitis
• between ages 2-7
• usually follows varicella or other viral infxn.
• lasts a few weeks → complete recovery.

BP-neuro p. 59

• TCA (imipramine, desipramine, amitryptiline), gabapentin, pregabalin.
• acyclovir & prednisone to treat an acute episode of zoster and perhaps ↓ incidence of postherpetic neuralgia.

PT p. 85, Kap imq816

• botulism

UW 2289

• EEG; hyperventilation, photic stimuls, and sleep can trigger absence seizures.
• ethosuximide or valproic acid.

UW 2279

• starting at 6 weeks TMP-SMX for P jirovecii.

PT p. 278

• Aspirin after viral infection (especially flu, varicella)
• fatal hepatoencephalopathy
• mitochondrial abnormalities, fatty liver
• ↑ liver enzymes and ammonia
• total bilirubin is normal → no icterus
• excitability, delirium, combativeness
• seizures, cerebral edema, herniation
• mechanism: aspirin metabolites ↓ β-oxidation by reversible inhibition of mitochondrial enzyme.

PT p. 278, FA p. 361, UW 2896

• SECSY
• Shigella, E. coli (EHEC), campylobacter, Salmonella, Yersinia.
• toxic encephalopathy can be seen w/ Shigella (Ekiri Syndrome) → seizures.

PT p. 279

• accumulation of fluid in at least 2 fetal compartments.
• skin/scalp, pleura (pleural effusion), percardium (pericardial effusion), abdomen (ascites).
• usually occurs from fetal anemia (caused by maternal parvovirus B19 infection, ABO blood group incompatibility).

PT p. 281

• despite mother being immunized infant is at great risk of infection.
• pertussis not entirely prevented by transplacentally acquired Ab.
• tx with erythromycin prophylatically in exposed, susceptible people; even in immunized household contacts, highly contagious (75% of immunized will develop it)!!!
• no need to immunize infant if culture comes back positive; infection confers lifelong immunity.

PT p. 282, UW 3906

• early (first 7 days of life): from maternal complications (prolonged rupture and chorioamnionitis).
• late (after 7 days): environmental exposures not related to mother.
• up to age 3 months: #1 GBS, #2 E. coli, #3 Listeria monocytogenes.

PT p. 284, Kap q. m000804

• TSST-1 from tampons & diaphragms, and non-menstrual (pneumonia, abscess, cellulitis, bacteremia, osteomyelitis).
• presentation: high fever, hypotension, vomiting, diarrhea, erythematous macular rash, injected conjunctiva & oral mucosa, and strawberry tongue.

PT p. 285

• hemolytic uremic syndrome - shiga/shiga-like toxin deposited in glomerular endothelium → apoptosis & binding of leukocytes → thrombosis; also shiga toxin inactivates ADAMTS13 (metalloproteinase) → vWF multimers form → platelet aggregation.
• HUS: oliguria, hematuria, kidney failure, thrombocytopenia; tx w/ peritoneal dialysis.
• thrombotic thrombocytopenia: inactive ADAMTS13 possibly via Ab formation.
• TTP symptoms: thrombocytopenia (bruising and purpura), neurologic symptoms (hallucinations, AMS, stroke, HA), kidney failure, fever.

• pleural effusion
• empyema
• pyopneumothorax
• commonly child has URI for several days, with abrupt onset of fever and respiratory distress.

PT p. 297

• worsens for first 2 weeks and slowly resolves over ensuing 3 to 4 weeks.
• CXR - interstitial or bronchial pattern, especially in lower lobes.

PT p. 297

• idiopathic (immune) thrombocytopenic purpura - most cases occur after viral infection; Ab against GpIIb/IIIa; tx - if platelet > 30,000, just observe. IV Ig and corticosteroids; sometimes splenectomy.
• heparin induced thrombocytopenia - stop heparin; due to Ab formation.

PT p. 308

• > 10 μg/dl
• free protoporphyrins accumulate in blood (this occurs with iron deficiency anemia as well, so lead level is crucial).

PT p. 309

• commonly dx between 1 to 3 years and some have a hx of recent viral infection (but NOT parvovirus).
•  profound anemia → pallor, tachycardia & murmur
•  reticulocytopenia, with marked reduction in erythrocyte precursors in marrow; normal RBC adenosine level.
• lasts for several months and may require 1 to 2 transfusions.
• Diamond-Blackfan anemia (DBA) is congenital and presents in infancy with an ↑ RBC adenosine level; triphalangeal thumb.

PT p. 309, Kap p. m000386

• sulfa drugs, antimalarials, nitrofurans, napthalene mothballs, fava beans, infection.
• heinz bodies → bite cells.

PT p. 311

• desmopressin
• type I - decreased production of normal vWF.

PT p. 314

• fever, night sweats, malaise, weight loss, and pruritis, pulmonary findings (cough), nontender lymphadenopathy (cervical, supraclavicular, axillary, inguinal).
• dx: first CXR looking for mediastinal mass, then bx nodes.
• it is a B-cell disease, 50% associated with EBV.

PT p. 315

• vitamin D resistant Rickets
• X-linked dominant trait
• problem with renal tubular reabsorption of phospate → hyperphosphaturia & hypophosphatemia.
• ↓ conversion of 25-hydroxyvitamin D to 1,25-dihydroxyvitamin D.
• Ca²⁺ concentration is usually normal.
• note: PTH "phosphate trashing hormone."

PT p. 353

• Osteogenesis Imperfecta
• normal serum Ca & PO₄ concentrations; it is a problem with bone matrix.

PT p. 354

• calcitonin b/c it arises from C cells of the thyroid.
• normal Ca and PO₄

PT p. 354

• feeding difficulty → failure to thrive
• little movement in utero and hypotonic during neonatal period.
• later obesity is the problem (hyperphagia), hypotonia, hypogonadism, almond shaped palpebral fissures.

PT p. 355

• autosomal recessive
• obesity, MR, hypogonadism, polydactyly, and retinitis pigmentosa with night blindness.

PT p. 355

• abnormalities of upper extremities (hypoplastic radii, thumb abnormalities); low sloping shoulders, right hand attached at elbow w/ agenesis of forearm, bifid thumb.
• cardiac abnormalities
• missing chest wall musculature

PT p. 357

• MR, microcephaly, holoprosencephaly
• short palpebral fissure (space where upper & lower eyelids meet).
• short nose
• thin upper lip
• large philtrum
• heart defects

PT p. 357

• infants born to diabetic moms are frequently macrosomic, BUT can have other anomalies.
• congenital heart disease (asymmetric septal hypertrophy, transposition of the great vessels).
• caudal regression (hypoplastic lower extremities).
• vertebral defects
• single umbilical artery
• jaundice
• small left colon or duodenal atresia
• renal vein thrombosis
• hyaline membrane disease (aka infant respiratory distress syndrome) → tachypnea, retractions → progressively worsens to include  grunting, nasal flaring, cyanosis.

PT p. 357, Kap q. m000420, UW 4831, 3835

• GH deficiency → proportionate growth retardation (upper to lower segment ratio is normal).
• achodroplasia → stunted long bones, normal growth of trunk & head; autosomal dominant; marked lumbar lordosis, stubby fingers.

PT p. 345, 347

• jaundice
• constipation
• sluggishness
• poor feeding
• apnea
• macroglossia
• excessive sleepiness

PT p. 346

• immobilization hypercalcemia → hypercalciuria → nephropathy, nephrocalcinosis, hypertensive encephalopathy, and convulsions.
• dx: urinary calcium to creatinine ratio > 0.2 = hypercalciuria.

PT p. 349

• 21-hydroxylase deficiency →
• anorexia, vomiting, diarrhea, dehydration
• hypoglycemia, ↑ pigmentation
• lab: hyponatremia, hyperkalemia, urinary Na⁺ wasting.
• note: can be deficiency of 17α-hydroxylase or 11β-hydroxylase as well. Basically adrenal hyperplasia b/c of ↑ ACTH 2° to ↓ cortisol.
• desmolase, 17(→), 3(↓), 21(↓), 11(↓)

PT p. 438, FA p. 318

• during tanner stage 2 or 3.
• can be unilateral or bilateral.
• spontaneously regresses usually lasts no more than 2 years.
• discharge is abnormal; look for prolactinoma.

PT p. 350, Kap q. m000360

• homogentisic acid oxidase deficiency → ↑ homogentisic acid → urine turns dark brown or black on exposure to air.
• affected children are asymptomatic
• adults, ochronosis: deposition of bluish pigment in cartilage and fibrous tissue → arthritis.
• vitamin C may delay symptoms.

PT p. 350

• MERFF - myoclonic epilepsy, ragged red fibers associated with exercise.
• MELAS - mitochondrial encephalopathy, lactic acidosis, stroke-like episodes.
• LHON - Leber hereditary optic neuropathy (acute loss of central vision).

PT p. 358, FA p. 89

• low-birthweight infants
• prematurity
• ↑ risk of pregnancy-induced HTN
• poor weight gain in the mother
• ↓ risk of twin gestation

PT p. 367

• bradycardia, orthostatic hypotension, arrhythmias
• Qtc prolongation and ST-T waves Δs in ECG
• ACS, cardiomyopathy, mitral valve prolapse
• ↑ cholesterol & carotene levels
• anemia & leukopenia
• osteopenia, osteoporosis
• hypothyroidism (according to uptodate, TSH is normal, T₃ & T₄ may be normal or slightly ↓, ↑ reverseT₃; euthyroid sick syndrome).
• depression-like symptoms 2° to malnutrition
• cognitive impairment, evidence of enlarged ventricles, ↓ grey & white matter, peripheral neuropathy.
• lanugo
• muscle wasting
• amenorrhea (key for differentiating b/w bulimia), loss of libido
• in patients who regularly vomit: parotid enlargement, ↑ amylase levels, electrolyte imbalance (hypokalemia).
• hyponatremia 2° to polydypsia
• GH & cortisol are frequently ↑; ↓ LH/FSH
• 2 subtypes: restrictive type & binge-eating/purging type (different from bulimia in that low body weight and hormonal imbalances distinguishes the 2).
• pharmacologic thx not helpful; Food is the best medicine! tx as outpatient unless they are more than 20% below their ideal body weight; also CBT. BUT, if pt fails to respond to above thx use Olanzapine (UW3140).
• if patient recovers and manages to get pregnant → premature or small for gestational age baby 2° ↓ nutritional reserves; also intellectually impaired infant.

FA-P p. 147, q. 3-24, 4-26, UW3953

• tubo-ovarian abscess
• endometritis
• salpingitis
• pelvic peritonitis
• PID → ↑ risk of ectopic pregnancy
• 20% become infertile after one episode of PID.
• other sequelae include: dyspareunia (pain w/ sex), pyosalpinx, pelvic adhesions.

PT p. 373 

• serotypes (L1, L2, L3) of Chlamydia trachomatis.
• primary stage: self-limited painless genital ulcer → heals within a few days.
• secondary stage: occurs 10-30 days later. infection spreads through lymph nodes → lymphadenitis and lymphangitis.

wiki

• Heart Rate
• Respiration
• Color (skin)
• Tone (None, Weak/Passive, Active)
• Reflex irritability (None, Facial Grimace, Active Withdrawal).
• Score 7-10 generally have better outcome than 0-3 at five minutes.

PedsKap p. 1

At what age do newborn reflexes disappear?

Babinski? Parachute?

• generally 4-6 months
• Babinski - disappears at 18 months
• Parachute reflex appears at 6-8 months, never disappears.

PedsKap p. 47

• mesenteric adenitis
• Yersinia enterocolitica
• constipation
• Crohn disease
• Meckel diverticulitis
• ectopic pregnancy
• ovarian torsion
• UTI

Kap q. m001089

• abdominal distension
• air fluid levels
• crampy abdominal pain
• N & V
• peritoneal irritation
• diarrhea or constipation

Kap q. m001089

• Fixed Spliting
• Wide Splitting
• Paradoxical Splitting

• fixed - ASD
• wide - conditions that delays RV empyting (pulmonic stenosis, RBBB)
• paradoxical - anything that delays LV emptying (aortic stenosis, LBBB); P2 occurs before A2.
• Endocardial Cushion Defects - ASD & VSD are present and contiguous → cardiomegaly

FA p. 284, Kap q. s2s101

• (UW4853) initial bolus in resuscitation should be done with 0.9% normal saline or LR.
• Kaplan says → D5W
• 1 L of D5W for every 3 mEq of sodium above 140 mEq.
• if Na⁺ 164 mEq, then 8 L D5W.
• correct over 48 hours to avoid dropping sodium too rapidly and causing cerebral edema.

Kap p. Q0302m

• basically the pulmonary artery supplies the lungs and the systemic circulation.
• the systemic circulation is accessed via the ductus arteriosus.

Kap q. Q0311m

• adenosine
• look for narrow QRS complexes, possibly no visible P waves; heart rate tends to be unvarying; whereas with sinus tachycardia HR varies with Δ's in vagal and sympathitic tone.
• in neonates most common cause of SVT is re-entry via an accessory pathway.

Kap q. m000402

• adenosine deaminase deficiency (autsomal recessive); ↑ adenosine & deoxyadenosine (dATP) turn off DNA synthesis.
• X-linked severe combined immmunodeficiency
• failure to synthesize MHC II antigens.
• tx: bone marrow transplant.
• absence of thymic shadow, but also think of DiGeorge.

Kap q. Q0597

• no plasma cells; normal number of B-cells.
• defect in B-cell maturation
• very ↓ IgG, and below normal levels of IgM & IgA
• onset in late adolescence.
• ↑ risk for lymphomas, gastric carcinoma, skin cancer.

Kap q. Q0389

• anti-glutamic acid decarboxylase Ab
• it is a pancreatic Ag

Kap q. MB000054

• IV furosemide
• furosemide also used to tx bronchopulmonary dysplasia.

Kap q. Q0191, Q0181

• pneumococcal (Streptococcus pneumoniae)
• HiB
• meningococcal

Kap q. Q0317m

• herpetic whitlow, acute eruption of vesicles on an erythematous base.
• tx: observation and analgesics
• acycolvir or valacyclovir can be used to ↓ duration.

Kap q. m000783m

• Adam's test: forward bending

Kap q. s2s099m

• osteoid osteoma

Kap q. Q0301

• catalase (+)
• Staphylococcus aureus, Pseudomonda cepacia, Serratia marcescens, Nocardia, and Aspergillus.
• NADPH deficiency → (-) nitroblue tetrazolium test.

Kap q. MB000088

• sunset sign (both eyes deviated downward with retraction of both eyelids).
• usually seen in hydrocephalus → ↑ ICP
• other signs include: tense anterior fontanelle, visibly distended scalp veins.
• germinal matrix hemorrhage: during development the ventricles are lined with highly vascular neuroectodermal tissue. In premature infants this lining has not completely developed. These vessels within the germinal matrix region are vulnerable to hypoxic insult → hemorrhage (subarachnoid) → ↓ absorption of CSF by damaged arachnoid villi & cisterns (whose fxn it is to absorb CSF) → communicating/non-obstructive hydrocephalus.

Kap q. Q0832m, UW3666

• β-thalassemia major requires lifelong transfusion w/ iron chelation (otherwise 2° hemochromatosis); "crew cut" on skull X-ray.
• other causes of microcytic anemia: iron deficiency, lead poisoning, sideroblastic anemia.

Kap q. Q0815

• pneumonia

Kap q. 0177m

• azithromycin

Kap q. m000419

• Ebstein's anomaly
• it can present as an SVT
• WPW can also present like this

Kap q. m000352

• PDA
• best heard in left sternal border, 2nd intercostal space, and radiates to clavicle.
• widened pulse is associated with a bounding pulse.

Kap q. m000399

• asymmetric arthritis
• urethritis
• uveitis

FA-Peds p. 338

• hypoxia during labor → predisposing fetus to perinatal asphyxia.
• poor tone and weak repiratory effort indicate the same.

Kap q. Q0416

• aka post-viral synovitis
• usually after a viral infection or vaccination (common after rubella vaccine).
• symptoms typically last < 1 week, fever is usually absent, and children do not appear toxic.
• X-ray: widening of joint space or enhanced pericapsular shadow.

Kap p. m000251m, UW 4857

• 10 days of penicillin V
• or Benzathine penicillin G IM

Kap q. Q0310

• staphylococcal scalded skin syndrome.
• Nikolsky sign is present.
• tx - w/ oxacillin IV for secondary infection of skin.

Kap q. m000358

1. Henoch Schonlein Purpura
2. IgA nephropathy
3. minimal change disease
4. transient tenosynovitis
5. ADEM
6. postviral cerebellitis
7. Bell palsy
8. ITP
9. Transient Erythroblastopenia of Childhood
10. bacterial sinusitis
11. Acute Lymphoblastic Leukemia (ALL)

• mild 3%-5%, cap refill < 2
• moderate  6%-9%, cap refill 2-3 seconds
• severe > 10%, cap refill > 3 seconds
• Weight x (% dehydration) w/ first half of deficit replaced over 8 hours and the remainder replaced over 16 hours (total 24 hours).

• C1 inhibitor deficiency
• edema of skin, especially periorbital, but mucosal surfaces  as well (larynx, bowels → colicky pain).
• precipitated by infection, dental procedure, or trauma.
• C4 levels are depressed
• angioedema via ACEi/ARBs involves the same mechanism.

Pathoma p. 17, UW2769

• nasal polyps
• neonatal jaundice
• recurrent sinus infection
• chronic diarrhea
• features of malabsorption (failure to thrive, low weight/height percentile).
• dry skin (vitamin A deficiency), epistaxis (vitamin K deficiency); remember D, E, A, & K are all fat soluble and require pancreatic enzymes for absorption.

Kap q. s2s059m, UW 3926

• Renal dimercaptosuccinic acid scan (DMSA scan)
• usually performed after VCUG (voiding cystourethrogram) confirms reflux.

Kap q. m000414

• < 1 year old; peak incidence 2-3 months of age
• death unexplainable by hx or postmortem examination.
• autopsy may reveal: mild pulmonary edema and diffuse intrathoracic petechiae.

Kap q. s2s061

• Mycoplasma
• also: HSV, TB, Hep B, EBV, enterovirus

Kap q. m000356

• clinodactyly of fifth finger
• endocardial cushion defect/ASD
• duodenal atresia
• hypotonia
• enlarged tongue
• ↓ α-fetoprotein
• ↑ risk of ALL and AML

FA p. 93, Kap q. Q0228m

• celiac disease
• Also individuals with Down syndrome, Hashimoto's thyroiditis, and selective IgA deficiency are at ↑ risk for celiac disease.
• screen by measuring total serum IgA (to ensure that no false negative test; occurs in selective IgA def) & measure serum tissue transglutaminase (TTG) IgA-Ab.
• verify positive screen w/ duodenal bx via endoscopy.

Kap q. m001038

• double weight - 6 months
• triple weight - 1 year
• double height - 4 years

Kap q. Q0225

• Nevus sebaceus
• over time lesion will become nodular and wart-like
• predominantly sebaceous glands
• can differentitate into epithelial tumors
• in adulthood can turn into basal cell carcinoma

Kap q. m000355

• Never diastolic
• soft vibratory or musical systolic ejection murmur best heart at left lower to midsternal border.
• Never > 2/6 intensity
• most are heard in children btw age 3 and 7.
• most frequently heard at time of routine physical examination, but also heard at times of ↑ cardiac output such as fever, infection, and anxiety.
• Pulmonary flow murmurs are also innocent, but have a higher pitch, blowing character during early systole, heard best in 2nd left parasternal space w/ pt lying down.
• Venous hum: heard in neck or anterior chest in both systole and diastole, but can disappear with compression of the jugular vein.

Kap q. s2s063

• affects children btw 3-10 years.
• bilateral and involve the lower leg and knees.
• manifests with deep pain during rest (usually at bedtime), and are relieved by massaging or analgesics.
• can be painful enough to wake from sleep and make them cry.
• children wake up next morning feeling fine and physical activity is not impaired.
• Ddx: osteoid osteoma, presents at night, relieved by analgesics, but is unilateral.

Kap q. Q0388m

• definition: excessive crying in an otherwise healthy infant for > 3 hours/day, > 3 days/week, > 3 weeks/month.
• usually presents within the first 3 weeks of life and resolves spontaneously by 4 months of age.
• crying usually occurs at the same time everyday, and usually in the evenings.

UW 4856

• constitutional growth delay
• most common cause of short stature as well.
• child will have normal birth weight & length, but at 6 months to 3 years of age the height & growth velocity slows. At 3 years of age the child regains normal growth velocity and follows the growth curve at 5th - 10th percentile.
• puberty and adolescent growth are delayed, but eventually occurs → normal adult height.

UW 4830

• hearing loss
• loss of cognitive fxn (due to neuronal loss in the dentate gyrus of the hippocampus) → regression.
• seizures
• MR
• spasticity or paresis

UW 2442

• fibromuscular dysplasia
• hum or bruit over costovertebral angle due to well-developed collaterals.

UW 3866

• in children, hematogenous spread of bacteria, frequently following an URI.
• osteomyelitis develops in this fashion as well.
• surgical emergency, drain immediately.
• tx: < 5 (nafcillin or vancomycin + 3rd gen cephalosporin), > 5 (nafcillin or vancomycin alone).

UW 3577

• aplastic anemia, pancytopenia
• short stature
• microcephaly
• abnormal thumbs (absent thumbs, but NOT triphalangeal thumbs).
• hypogonadism
• hypopigmented/hyperpigemented (cafe au lait & large freckles).
• strabisums
• low set ears
• middle ear abnormalities.
• horseshoe kidneys

UW 4438

• aka congenital hypoplastic anemia (macrocytic anemia, low reticulocyte count, congenital anomalies).
• intrinsic defect in erythroid progenitor cells → ↑ apoptosis → pallor; pure red cell aplasia.
• triphalangeal thumbs
• webbed neck, cleft lip, shielded chest

UW 3818

• benefits: ↓ reflux, contains (lactoferrin, lysozyme, IgA; all of which help with immunity), absorbs better, and improves gastric emptying.
• cons: inadequate vitamin D (must supplement)

UW 4868

• temp > 38 °C
• age < 6 years
• NO CNS infection
• no acute systemic metabolic cause of seizure.
• no history of previous afebrile seizure.
• ------------------------------------------ •
• Febrile seizures are most commonly associated with viral illnesses or bacterial infections (e.g. otitis media).
• rule out serious intracranial infections with H&P and identify source of infection.
• intracranial infection: look for focal signs.
• if no evidence of intracranial infection just tx fever, no need to admit/observe; no scans or LP necessary.
• FYI - simple febrile seizures (generalized tonic clonic seizures that last < 15 minutes).

UW 4841

• in a young boy, it is a craniopharyngioma until proven otherwise.
• may present with diabetes insipidus as well.
• presence of a cystic calcified parasellar lesion on MRI is almost diagnostic.

UW 2648

• cutaneous lesions of palms and soles, hepatosplenomegaly, jaundice, anemia, rhinorrhea.
• on X-ray: metaphyseal dystrophy and periostitis.
• Late (after 2 years): frontal bossing, high arched palate, hutchinson teeth, interstitial keratitis, saddle nose, perioral fissures.

UW 4852

• administration of penicillin, amoxicillin, or cefaclor in setting of viral illness.
• occurs 1-2 weeks after drug.
• symptoms: fever, urticarial rash, polyarthralgia, lymphadenopathy.

UW 4584

• incubation period 10-21 days.
• infective from 48 hours prior to onset of vesicular rash until all vesicles are crusted and should be isolated during this period.
• vaccinate if within 3-5 days of exposure; otherwise, ↓ efficacy.

UW 4186

1. Stretococcus pneumoniae
2. non-typable Haemophilus influenzae
3. Moraxella catarrhalis
4. First line tx is 10-day course of amoxicillin.

UW 3972

• hypotonia
• hyperactive deep tendon reflexes
• learning disabilities
• low APGAR scores
• common cause is cerebral anoxia

UW 2443

• parents with a hx of migraines.
• tx: antiemetics and reassurance

UW 2453

• small VSD: harsh and lous holosystolic murmur, CXR: normal heart size, w/ slight ↑ in pulmonary vascularity.
• 40% of small VSDs close spontaneously by age 3, and 75% by age 10; therefore, reassurance and surveillance.
• large VSD: softer murmur, ↑ pulmonary pressure → Eisenmenger syndrome.

UW 3990

• arthritis; intermittent, and if untreated episodes will gradually disappear after 10 years.
• swelling from effusion and restriction of movements.
• can be monoarticular (just the knee).
• remember: lyme = erythema migrans, rheumatic fever = erythema marginatum.

UW 3836

• Klumpke paralysis; injury to 7th & 8th cervical nerve and 1st thoracic nerve.
• Erb-Duchenne palsy: injury to 5th and 6th cervical nerve; adducted arm, internally rotated, pronated; clinically presents with absent moro reflex & intact grasp reflex.

UW 4198

• GI phase (30 min-6 hours): direct mucosal injury → N&V, hematemesis, melena, adominal pain.
• latent (6-24 hours): largely asymptomatic.
• 6-72 hours: shock and metabolic acidosis.
• 12-96 hours: hepatotoxicity.
• several weeks later: bowel obstruction 2° to mucosal scarring.
• Levels ≥ 350 mcg/dl is considered toxic.

UW 4710

• Jervell-Lange-Nielson syndrome: autosomal recessive, congenital deafness, QT interval prolongation → torsades de pointes → syncope or sudden death; tx prophylactically w/ propranolol.
• Romano-Ward syndrome: autosomal dominant, NO deafness.

UW 3910

• Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyl transferase deficiency) - hypotonia, progressive MR, choreoathetosis, spasticity, dysarthric speech, dystonia, compulsive self-injury.
• X-linked recessive
• gout is usually seen in patients > 50.

UW 3817

• Turcot's: FAP or HNPCC + brain tumors
• Gardner's: lipomas, osteomas (esp of mandible), supernumerary teeth, gastric polyps, juvenile nasopharyngeal angiofibromas.
• FAP - familial adenomatous polyposis
• HNPCC - hereditary non-polyposis colorectal cancer

UW 2583

• HbS 35-40%
• most common presentation is painless hematuria.

UW 3787

• WBC > 12,000
• T > 38.5 °C
• ESR > 40 mm/h
• refusal to bear weight
• C-reactive protein > 2.0 mg/dL (20 mg/L)
• if at least 3 of 4 are positive, febrile, or ill-appearing → work-up for septic arthritis is indicated (arthrocentesis & IV abx).

• ---

  Transient synovitis
• usually follows a viral infection or mild trauma.
• X-rays should be ordered to exclude bony lesion, fxrs, and Legg-Calvé-Perthes (avascular necrosis).
• tx: NSAIDs and rest

UW 4857

• bulky, foul-smelling, floating stool
• loss of muscle mass or sub-Q fat
• pallor - iron deficiency anemia
• bone pain - osteomalacia
• easy bruising - vit K deficiency
• hyperkeratosis - vit A deficiency
• anti-endomysial IgA-Ab, anti-gliadin IgA-Ab, anti-tissue glutaminase IgA-Ab

UW 3602

• Von Gierke (Glucose-6-phosphatase deficiency): severe hypoglycemia, ↑↑ glycogen in liver, ↑ blood lactate, hepatomegaly.
• Pompe (Acid maltase or lysosomal α-1,4-glucosidase def): cardiomegaly & hepatomegaly, early death; Pompe's trashes the Pump.
• Cori (Debranching enzyme def): milder form of Von Gierke with normal blood lactate levels; gluconeogenesis is intact.
• McArdle (skeletal muscle glycogen phosphorylase def): ↑ glycogen in muscle, but cannot break down, leading to painful muscle cramps, myoglobinuria w/ exercise; McArdle=Muscle.
• Very Poor Carbohydrate Metabolism.

UW 3192, FA p. 115

• it does not differ from full-term infants.
• administer vaccines according to chronological age and NOT gestational age.
• prematurity does not alter immune response to vaccines & the risk of infection is much greater in preterm infants.

UW 4479

• normal before the age of 5.

UW 2433

• recurrent hemarthroses → hemosiderin deposition → hemophilic arthropathy (synovial thickening w/ fibrosis).

UW 4249

• normal; 2° to maternal estrogens crossing placenta and causing a pubertal effect.
• disappears as soon as hormone is cleared from circulaton.
• however; w/u if purulent discharge, discoloration, or odor is noted.

UW 3773

• persistent symptoms of nasal drainage, congestion, and cough.
• most cases can be dx clinically; symptoms must last 10-30 days w/o improvement.
• most common predisposing factor for acute bacterial sinusitis is a viral URI.
• tx: amoxicillin w/ or w/o clavulanic acid.

UW 4850

• looks like maternal diabetes, BUT it's not.
• Beckwith-Wiedemann syndrome

UW 3835

• ceftazidime + gentamicin
• basically penicillin/cephalosporin + aminoglycoside.

UW 4030

• age > 9 → doxycycline for 21 days.
• age < 9 → amoxicillin for 21 days.
• if both are contraindicated use cefuroxime axetil or erythromycin.

UW 3636

• aka Albright hereditary osteodystrophy, McCune-Albright syndrome, polyostotic fibrous dysplasia.
• ↓ Ca²⁺, ↑ PO₄ (same problem as hypoparathyroidism)
• ↑ PTH w/ unresponsiveness of renal tubules to PTH.
• other features: brachydactyly (short fingers/toes) of 4th & 5th digits, obesity w/ round facies, short neck, cafe-au-lait spots, precocious puberty,  subcapsular cataracts, cutaneous/subcutaneous&perivascular calcifications of basal ganglia.
• Cushing's syndrome can occur with this disease.
• the 3 P's: precocious puberty, pigmentation, polyostotic fibrous dysplasia.

PT p. 354, UW 3871

• avascular necrosis of femoral head
• boys 4-10
• insidious onset of hip or knee pain
• antalgic gait (where stance phase of gait is abnormally short; ie, pain on bearing weight).

UW3404