Peds Shelf Notes Cardiovascular Dermatology Development Endocrinology Fluids Genetics & Other Congenital Stuf GI/Nutrition GU/Urinary Hematology Infectious Disease Neonatology Neurology Oncology Ophthalmology Orthopedics Psych Pulmonology Renal Rheumatology Adolescence Miscellaneous
Cardiovascular PDA: ductus usually closes within 10-15h and almost always by 2 days of birth AV canal / endocardial cushion / AV septal defect: contiguous atrial, ventricular septal defect. ● large systolic pulmonary flow murmur + LLSB diastolic murmur heard; can have wide split S2
Cyanotic Heart Defects Note: if something’s happening around 10-15h of life and it looks cardiac, give prostaglandin to open PDA! ● Also do hyperoxia test: if PaO2 on 100% O2 < 50, probably a mixing cardiac lesion (big shunt) Ductal-independent: Truncus, TAPVR, D-transposition of great arteries (all mix on their own) Ductal dependent: ● For pulmonary blood flow: TetFallot, critical pulm stenosis, tricuspid atresia, PA-IVS ● For systemic blood flow: hypoplastic left heart, interrupted aortic arch, critical coarc, critical aortic stenosis, tricuspid atresia with transposition of the great arteries. Name
Physiology
Diagnosis
Treatment
Transposition Aorta, pulmonary of the Great artery switched. Arteries When PDA closes, two parallel circuits formed without a/v mixing trouble! Less sx if VSD present too.
Healthy-looking kid stops feeding, looks dusky, breathes fast, long cap refill @ 15h (PDA closes). Loud, single second heart sound. “Egg on a string” on CXR (narrow mediastinum: aorta, pulmonary artery superimposed)
Prostaglandin (open PDA), then create ASD (atrial septostomy) via cath for palliation; definitive surgery in first 2 wks
Tetralogy of Fallot
See boot shaped heart (RVH), decr. pulmonary vascularity. Classically with tet spells (sudden incr. in R-L shunting, cyanosis after activity, child squats to compress peripheral vessels / improve pulm blood flow.
Surgery
Cyanosis, exercise intolerance. ULSB systolic ejection
Valvuloplasty via cardiac cath.
1). Pulmonary stenosis 2). Overriding aorta 3). VSD 4). RVH. A/w 22q11 (DiGeorge)
Pulmonary valve
Stenosed pulmonary valve = outflow
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stenosis
obstruction.
murmur that radiates to back; systolic click. EKG: R-axis dev with more severe (RVH). A/w glycogen storage dzs, Noonan syndrome
Tricuspid atresia
No outlet between RA, RV - need foramen ovale, ASD, VSD for mixing. Leads to RV hypoplasia.
Cyanosis. Decreased pulm vasculature on CXR. The only cyanotic heart disease with LVH on EKG, exam, echo (others have bigger RV!)
Prostaglandin, then surgical correction (modified BT, then hemiFontan, then Fontan)
Ebstein anomaly
Regurgitant tricuspid valve displaced towards bottom of R heart (small RV results). Obstructs ventricular outflow (large anterior leaflet
Cyanosis. Wide, fixed split S2, tricuspid regurg blowing murmur @ LLSB, extreme cardiomegaly on CXR
Prostaglandin, then surgical correction
TAPVR: Total anomalous pulmonary venous return
Anomalous pulmonary veins enter systemic veins (oxygenated blood shunted back to venous side!) Must have ASD/PFO for mixing
“Snowman” shadow above heart (outlines of pulm vv draining to innominate vein & persistent left superior vena cava). RV heave, fixed split S2, cardiomegaly, RVH, cyanosis
Surgery (emergent if obstruction, within 1 mo of life if not)
Hypoplastic left heart syndrome
Underdeveloped left side of heart. Need ASD/PDA: ASD to get O2-rich blood from LA to veins, where it can go to body via PDA
Cardiomegaly, increased pulmonary vascularity. See poor R wave progression & RVH on EKG.
Prostaglandin, Palliation (Norwood, Glenn, Fontan staged repair) / transplant
Pulmonary atresia with intact ventric. septum (PAIVS)
Pulmonary valve small or shut of, with no VSD = no mixing!
Cyanosis within hours, worse with closure of PDA Decreased pulmonary vascularity
Prostaglandin Surgery
Truncus Arteriosis
Single arterial vessel from base of heart gives rise to coronary, systemic, pulmonary arteries, always with VSD
A/W DiGeorge. Nonspecific murmur, minimal cyanosis at birth, but CHF in weeks (pulm vasc resistance falls, lungs suck up blood, systemic blood flow falls). loud ejection click, single S2 with bounding pulses.
Surgery (close VSD, separate pulmonary arteries, conduit from RV to pulmonary arteries
A/w lithium during pregnancy, also a/w WPW
Cardiac surgeries
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● Norwood procedure: connect subclavian to pulmonary artery (modified blaylocktaussig shunt) to get blood to lungs. Problem: expose lungs to high systemic pressures. In hypoplastic L. heart syndrome, the RV is essentially pumping systemic circulation (PA to aorta via maintained PDA), so you need another way to get blood to lungs - hence this procedure. ● Bi-directional Glenn (Hemi-Fontan): SVC connected to pulmonary circulation. Lungs now getting much lower venous pressures (better) but IVC still dumping deoxygenated blood into RA->RV->PA->PDA->Aorta (mixes!) ● Fontan procedure: connect IVC to pulmonary circulation (completing the Fontan) - now all deoxygenated blood (SVC and IVC) goes to lungs, and RV is providing pump action for systemic circulation (like the LV usually does)
Benign murmurs: Diastolic = pathologic. For systolic: More likely innocent
More likely congenital heart disease
Murmur intensity grade 2 or less, heard at left sternal border Normal S2 No audible clicks Normal pulses No other abnormalities
Murmur intensity grade 3 or higher Harsh quality Pansystolic duration Loudest at upper left sternal border Abnormal S2 Absent or diminished femoral pulses Other abnormalities
Peripheral Pulmonary Stenosis (= pulmonary branch stenosis). ● Classic murmur description: grade 1-2/6 high pitched /blowing mid-systolic ejection murmur, best heard @ LUSB, radiating to axilla and through to back. ● Epidemiology: responsible for majority of innocent murmurs in term infants (especially after 24h, when most PDA have closed, and PDA is no longer explanation). ● Physiology: The murmur may be due to the relative hypoplasia at birth of the branch pulmonary arteries compared to the main pulmonary artery (which is large because it feeds the PDA and systemic circulation in utero) and their sharp angle of origin, which causes turbulence and the murmur. Disappears by 2-3 months of age as branches grow. ● Pulmonary Flow murmur is a similar murmur, also benign, heard in older kids (≈ 6 to adolescence) – systolic ejection murmur best heard at LUSB, from turbulence of flow where main pulmonary artery connects to R ventricle (across pulmonary valve). Still’s Murmur (= vibratory murmur): ● Classic murmur description: low pitched, vibratory, musical (“strummed bass fiddle”), grade 1-2/6 systolic ejection murmur; are usually best heard between the LLSB and apex. ● They typically decrease in intensity or resolve with a Valsalva maneuver, which can be induced in infants by gentle pressure on the abdomen. Still's murmurs tend to vary with heart rate, becoming more evident as the heart rate slows. ● Epidemiology: can present in infancy; also often between 3-6 years old.
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Physiology: Somewhat controversial; some thing it’s from vibration of MV or chordae; others think it’s just from high-turbulence ejection from LV.
Venous Hum: benign; continuous / soft / humming murmur heard @ neck, right upper chest. ● Heard in 3-6 y/olds mostly. From turbulent flow in jugular venous / SVC systems. Disappears when supine Carotid Bruit (3-7 yrs): systolic ejection murmur best heard at neck ● turbulence where brachiocephalic vessels attach to the aorta
Possibly Pathologic Murmurs: VSD: Classic murmur description: 2-3/6 low-pitched harsh holosystolic murmur best @ L midto-lower sterna border (small VSD). If subpulmonic, best @ LUSB. If spontaneously closing, holosystolic murmur shortens (early systole only, then disappears). ● Epidemiology: 20% of all children with CHD have an isolated VSD. ● Physiology: Membranous, subpulmonic, AV canal, muscular defect. In utero, R≈L sided systolic pressures; mostly insignificant. L to R shunt after pulmonary resistance falls, ductus arteriosis closes. Often present as murmur at 4-10 days of life (PVR needs to fall enough to create gradient) ● Severity depends on size. Small = small L to R shunt, no change in R sided pressures. Moderate = resistance to pressure, not to flow (no R side pressure increase, but more flow = can overload L atrium, L ventricle by increasing return). Large essentially creates a single pumping chamber with two outlets; again can overload by increasing return into L heart; can ↑ PVR as well --> eisenmenger syndrome when PVR > SVR (R-->L) ● What to do? ● Workup: EKG (look for LVH, L atrial enlargement) +/- CXR (can show increased vascular enlargement, chamber enlargement) – both only with findings in moderate/large VSD. ● Moderate to large VSDs p/w heart failure by 3-4 wks age. Refer to cardiology. 50% can be managed medically (diuretics, ACEi, digoxin), 50% will need surgery. ● Small VSDs usually remain asymptomatic. 75% will close within first two weeks of life. Schedule appt at 3-4 wks (when they would “declare themselves”) & educate about signs. If still asymptomatic at 3-4 wk checkup, peds cards followup at 8-10 weeks, then at 12 months if still growing well. ASD: ● ● ●
Fixed splitting of S2 (wide on both inspiration and expiration). No murmur from flow (atrial flow doesn’t have high enough gradient). Can have pulmonic systolic ejection murmur from increased RV volume. No good evidence to close a small ASD / PFO – despite theoretical risk paradoxical embolism. Close large hemodynamically unstable ones. Majority of small (<6mm) isolated secundum defects close by 2 yrs.
PDA: continuous, machine-like murmur, 3/6 or less, best heard in L infraclavicular region. ● Continuous because aortic pressure is higher than pulmonary pressure throughout diastole and systole; max intensity around S2. No change with position. Moderate / large can
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be symptomatic (exercise intolerance); even lead to RL shunt & eisenmenger’s syndrome. Consult peds cards; generally close even small audible PDAs (even those have risk endocarditis) with indomethacin; controversial about silent PDAs.
Coarctation of the aorta: think Turner’s syndrome; ductal dependent; start prostaglandins, see diferential blood pressures & pulses, may require surgery Aortic stenosis: in kids, often a/w bicuspid aortic valve which becomes stenotic. harsh systolic ejection murmur best heard @ RUSB with ejection click preceding it; may have thrill, may radiate to carotids. LVH on EKG. If critical, may be ductal dependent prostaglandin indicated. Otherwise, try balloon valvuloplasty Pulmonic stenosis: if critical, may force foramen ovale open --> R to L shunt. ejection click, then harsh systolic ejection murmur @ LUSB +/- thirll, RV heave; enlarged PA on CXR, RVH on EKG. May need prostaglandins. Rheumatic heart disease: most often acutely causes mitral regurgitation, later in life may progress to mitral stenosis. Aortic valve is #2. Kawasaki disease: can cause pericarditis, myocarditis, coronary arteritis, but coronary aneurysms are the most worriesome thing (most in subacute phase, days 11-25, regress in most patients, less risk if aspirin used). Then use low dose aspirin until the aneuryisms resolve. Endocarditis: Fever & new murmur, may have nonspecific chest pain. strokes, hematuria are the more common embolic phenomena in kids (Roth spots, splinter hemorrhages, petechiae, Osler nodes, Janeway lesions less common in peds) ● Most commonly strep viridans (alpha-hemolytic strep) & staph aureus. ○ If a complication of cardiac surgery, also consider fungi, staph epi. ○ GNRs more likely if neonate, immunocompromised, IVDU ● Abx ppx before dental procedures if: prostetic valve, previous endocarditis, CHD that’s unrepaired / have palliative shunt / conduit / prosthetic material, or heart transplant pts with cardiac valvular disease only! ● CRP, ESR, WBC elevated. Get an echo to look at valves. Give 6 weeks IV abx directed therapy. Myocarditis: mostly coxsackie B, alsocCoxsackie A, adenovirus, echovirus. ● Fever, dyspnea, fatigue, chest pain (from secondary pericarditis). looks like CHF (cardiomegaly, edema, pulmonary edema / dyspnea, pallor, tachypnea / tachycardia) ● EKG: low voltage, ST depression, T-wave inversion. ● Echo: dilated ventricles, poorly functioning (depressed CO) ● PCR for viruses, may need biopsy. Dilated cardiomyopathy: in kids, from recent myocarditis (“idiopathic”), neuromuscular dz (DMD), or drug toxicity (e.g. anthracyclines), or can be familial ● Signs / sx : CHF, pulmonary edema.
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Treat like CHF: diuretics, fluid restriction, vasodilators & inotropes
Hypertrophic cardiomyopathy: Aut dom with incomplete penetrance. can present as sudden death in young athlete stereotypically. ● thickened ventricular septum --> LV outflow tract obstruction. Leads to systolic ejection murmur @ LLSB / apex with soft holosystolic mitral regurg murmur, may have LV heave / thrill. Murmur gets softer with squatting, laying down & louder with strain / Valsalva, standing up (more blood in LV means less obstruction) - the opposite of aortic stenosis ● EKG: see LVH, left-axis dev, may see signs of strain / ischemia. Echo is diagnostic. ● Tx: Ca-channel blockers, beta-blockers. Avoid competitive sports (4-6% mortality per year).
Arrhythmias Bradyarrhythmias: ● Sinus bradycardia: often normal in young healthy athletic kids. <60 in older children, <100 in neonates ● First degree heart block: PR > 200ms. ○ A/w increased vagal tone, meds (digoxin, beta-blockers), infections (viral myocarditis, Lyme), hypothermia, electrolyte problems, CHD, rheumatic fever. ● Second degree heart block: ○ Mobitz I / Wenchebach: Progressive PR prolongation, then QRS dropped. Same etiologies as 1st degree heart block. Less serious. ○ Mobitz II: abrupt failure of AV conduction - sudden dropped QRS after normal P. More serious than Mobitz I or 1st degree heart block (can progress to total heart block). ○ Fixed ratio: 2:1, 3:1, etc. blocks. From AV node or His injury. May progress to total heart block ● Third degree heart block: Total A-V dissociation. ○ Can be junctional escape (normal QRS interval), or ventricular escape (slower, wide QRS). ○ A/w open heart surgery, congenital heart malformations, Lyme disease, cardiomyopathy. ● Don’t need to treat 1st degree or Mobitz 1. For others, may need prophylactic pacemaker / defib. Tachyarrhythmias: Rate > 250: think tachycardia, even in the little ones. Classically, narrow-complex are well tolerated; wide-complex can be an emergency. ● narrow: think SVTs, WPW, AVNRT, A-flutter, A-fib ● For reentrant tachycardias: vagal nerve stim (carotid massage, ice, strain) then IV adenosine ● wide: V-tach / V-fib. Emergency time! ○ If hemodynamically stable, can try amiodarone or procainamide (not together) & consult cards ○ If unstable, PEA algorithm: if pulseless, non-synchronized cardioversion @ 2J/kg, CPR, ACLS.
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Wolf-Parkinson-White: see delta wave resting, representing accessory pathway
Congenital long QT: think channelopathies. can lead to TdP (give Mg to treat!) ● Jervell-Lange-Nielsen: long QT + sensorineural hearing loss ● Romano-Ward: no sensorneural hearing loss (strictly cardiac; worse) Hypertension in kids: more likely secondary than kids, although primary essential is increasing. check for pheo, renal artery stenosis, neuroblastoma, etc. ● Need 3x elevation > 95% adjusted for age, sex, height. ● make sure cuf covers 75% of upper limb, right cuf side, take multiple extremities if indicated ● Pharm therapy ○ younger kids: diuretics, beta blockers, ca channel blockers ○ older kids: can use ARB / ACEi in adolescents, adults) ○ hypertensive crisis: sublingual nifedipine, IV nicardipine, IV nitroprusside, labetalol. Can use hydralazine in neonates. Monitor closely & avoid sudden drops (cerebral perfusion autoregulated to higher pressures; can stroke out).
Dermatology Atopic dermatitis (eczema) ● Infants (birth-2) - present ~ 3mo with dry, red, scaling cheeks (e.g. winter time), may be exudative, without perioral, paranasal involvement, sparing diaper area, very pruritic & interfering with sleep ● Childhood: inflammation in flexural areas; perspiration --> itching/burning --> scratching --> irritation --> etc. See papules that coalesce into plaques; can see lichenification with itching. ● Older kids / adults: pruritic, recurrent, flexural, onset again around puberty, hand dermatitis / periorbital / anogenital. ● Runs with other atopic disorders (allergic rhinitis, asthma). ● Watch out for bacterial superinfection, difuse cutaneous HSV (punched-out red umbilicated vesicles) ● Dx: lab studies not great; serum IgE may be helpful. ● Tx: emollients, antipruritics (topical corticosteroids or antihistamiens), to control inflammation, avoid drying soaps, use lubricants (e.g. eucerin, vasaline) after bathing. Avoid topical fluorinated corticosteriods on face, genetalia, intertriginous area (can depigment / thin the skin) ○ Tacrolimus, pimecrolimus: nonsteroidal immunomodulators for more refractory cases Wiskott-Aldrich: X-linked recessive, recurrent infections, thrombocytopenia, eczema Psoriasis: erythematous papules that coalesce --> dry plaques with sharp borders and silvery scale ● Removing scale --> pinpoint bleeding (Auspitz sign). Can see stippling, pitting,
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onycholysis of nails ● Childhood: scalp, periocular, genital areas; also knees, elbows ● Tx: topical steroids; if severe, may need methotrexate / TNF-alpha inhibitors Seborrheic dermatitis ● Infants: “cradle cap.” Greasy brown scales; starts on scalp in first few months of life. ○ can involve ears, nose, eyebrows, eyelids (vs eczema) ○ Treat with ketoconazole-containing shampoo or low/med potency topical corticosteroids Pityriasis rosea: herald patch, then salmon-colored lesions in christmas tree distribution ● Unknown cause. Tx with topical antipruritics, creams, antihistamines, ?phototherapy Erythema toxicum: benign, self limited, 50% newborns, unknown etiology; eosinophil in fluid ● Yellow-white 1-2mm lesion with surrounding erythema; rash waxes/wane over days/wks of life Salmon patch = nevus simplex: flat vascular lesions on nape of neck, eyebrows; more prominent w/ crying ● Benign, self-limited, fade with time if on face Large vascular anomalies (e.g. kaposiform hemangioendthelioma, tufted angioma) can exhibit the Kasabach-Merritt phenomenon - basically sequester platelets, RBCs & get peripheral thrombocytopenia, coagulopathy, microangiopathic hemolytic anemia. ● can treat with corticosteroids, vincristine. Can lead to excessive bleeding during surgery Pustular melanosis: benign, self-limited, neonatal rash, blacks > whites, found at birth ● Pustules that rupture within days and are then hyperpigmented for weeks; eventually resolve Sebaceous nevi: small, sharply-edged, head/neck of infants; yellow-orange in color, elevated, hairless Milia: fine, yellow-white 1-2mm lesions scattered over face, gingiva of neonates; cyst w/ keratinized stuf inside ● Resolve spontaneously. Called Epstein’s pearls on palate Papular acrodermatitis of childhood (Giannoti-Crosti syndrome): ● Asymptomatic erythematous papular eruption, kids 1-6 yrs after URI, EBV, varicella, HBV ● Suymmetrically on face, extensor arms/legs/buttocks, spares trunk Infantile hemangiomas: often not present at birth, technically vascular tumros, can be in any location but most commonly head / neck. Generally present in 1st month, grow for several months / 1 yr, then involute slowly (generally resolved by 10 years of age).
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● Can use propranolol for severe hemangiomas to speed involution! Acne: ● Comedones: open = blackheads (compacted melanocytes); closed = whiteheads (prurulent debris) ● P. acnes is implicated. ● Categories: inflammatory (papules/ pustules/nodules/cysts) or non-inflammatory (just comedones) ● Treatment: ○ start with benzoyl peroxide or topical Retin-A (tretinoin); often try benzoyl peroxide in morning, tretinoin at night (need to wash benzoyl peroxide of first for tretinoin to work) ■ Tretinoin - increases cell turnover, inhibits microcomedone formation ○ topical abx next (erythro, clinda) applied BID; can be used at same time as benzoyl peroxide or tretinoin ○ systemic abx next (usually tetracycline - have to take on empty stomach, as milk products bind tetracycline; also leads to photosensativity) ○ ortho tri-cycline (OCP) can also be used. ○ isoretinoin (Accutane) for severe, resistent, nodulocystic acne (4 mo course) ■ Teratogen! get negative pregnancy test immediately before started; need efective contraception too. Remember oral abx can decrease OCP efectiveness, so be careful with these patients who might be taking tetracycline too! ■ Side efects: chelitis, conjunictivitis, hyperlipidemia, elevated LFTs, photosensitivity, can also get depression. ■ Treatment can be profound & permanent! Tinea barbae: can be confused with acne - resembles tinea capitis. requires systemic antifungals, not topical Neonatal acne: 20% neonates in 1st month of life; cause unknown (hormone transfer?), selflimited Tinea capitus: Most commonly Trichophyton tonsurans (also microsporum canis from animals) ● Patches of scaling and hair loss with “black dot sign” (broken of hair shafts) ● Need oral griseofulvin (topical agents not effective, although do use selenium sulfide shampoo as adjunct to kill spores) for 4-6 wks. Tinea corporus: “ring worm”, tinea pedis: feet, often in moccasin distribution, interdigital spaces; tinea cruris: jock itch, all most commonly from microsporum rubrum. Treat with topical antifungals (e.g. clotrimazole) Tinea versicolor: superficial tan / hypopigmented oval / scaly patches on neck, upper part of back /chest, most notable when rest of skin is tan from sunlight - treat with selenium sulfide shampoo or other antifungal agents.
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Development Gross motor
Fine motor
Language
Social
1 mo
Start to lift head from exam table
Follow eyes to midline only, hands clenched
Alerts / startles to sound; starts vocalizing a bit
Regards parents’ faces Smiles spontaneously Responds to bell
2 mo
Raises chest, lifts head of table if prone
Follows object 180 degrees; holds rattle briefly
Coos, reciprocal vocalization
Smiles socially, laughs, squeals, recognizes parent
Orients to voice, laughs, squeals
Initiates social interaction
Other
Sleep through night (2-3 mo)
Follows toy from side to side & vertically
3 mo
4 mo
Rolling over Head control with no lag; lifts onto elbows
Reaches with both hands together, bats at objects, grabs & retains
6 mo
Sitting up; tripoding (needs support) Reach for objects Roll over well
Reaches with one hand & can btransfer handhand
Babbles
Recognizes objects, persons as unfamiliar
9 mo
Sit without support, crawls, pulls to stand
Uses pincer grasp & finger feeds
Babbling still, “no” understood, nonspecific mama, dada,
Gesture games (pat a cake), own name, object permanence, stranger anxiety
12 mo
Walk holding on to furniture (cruises), a few independent steps
Pincer grasp & release (cheerios); two cube tower
Specific mama, dada + 1-4 other words
Imitates, comes when called, cooperates with dressing
15 mo
Walks well independently
Two cube tower, throws ball underhand
4-6 words + jagon, responds to 1 step command
Uses cup, indicates wants / needs
18 mo
Runs, walks up stairs with help, stoops / recovers
Three block tower, uses spoon, scribbles
10-25 words, points to body parts, communicates needs / wants
Plays near (not with) other kids
2 yr
Stairs unassisted, can kick / throw ball overhand, jumps with two feet of floor
4-6 block tower, fork / spoon, copies straight line
50 words total 2 word sentences 50% speech intelligible to stranger
Removes simple clothes, parallel play
3 yr
Tricycle, broad
Copies circle
250+ words
Knows age,
Introduce juices in cup, not bottle
Potty training (or when child shows interest)
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jumps
Copy square / cross, catches ball
3-8 word sentences 75% speech intelligible
gender; group play, shares
Fully understandable language - can tell a story 4 colors, can define 5 words, knows 3 adjectives
Dresses self, puts on shoes, wash / dry hands, imaginative play
4 yr
Stand on each leg for 2 seconds
5 yr
Stand on each leg for 5 seconds / skips with alternating feet
Draws person with 6 body parts
Asks what words mean
names 4 colors, plays cooperative games, understands rules
6 yr
Rides bike
Writes name
Written letters, numbers
Knows right vs left, knows all colors
Language is #1 predictor of future intellectual potential. Constitutional growth delay: FHx “late bloomers”, growth rate is normal but running along low %ile, ● bone age < chron age (can catch up). T injections can “jump start” puberty Familial short stature: short child of short parents. growth rate is normal but running along low %ile, ● bone age = chron age (no catch-up potential) GH deficiency: 1/4k children, slow growth, fall of of curve, children look younger, wt age > ht age (chubby) ● bone age < chron age (catch up potential) ● Screen with serum IGF-1 or somatomedin C + IGF-BP3, Rx with recombi GH injections until adult ht ● Can have functional GH deficiency if psychosocially deprived - look just like primary GH deficiency kids; blunted GH response to GH testing; resolevs when removed from environment. Hypothyroidism: usual sx, but also slow growth - see bone age < chron age (can catch up)
Endocrinology Diabetes Criteria for DM: ● Casual glucose > 200 with signs / sx
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● OGTT > 200 on 2 occasions ● FBG > 126 on 2 occasions ● HbA1c > 6.5% Presentation of DM: Kids mostly symptomatic. ¼ in DKA, others with polys, other sx. Vs adults (screening) MODY: monogenetic (autosomal dominant) family of disorders ● Think young adult, late teen without obesity but w/ T2DM-ish presentation (but no insulin resistance) ● Involve transcription factors in beta-cell development, glucokinase, etc. T2DM: think of risk factors (obesity, FHx, > 9-10 years old). Can present in DKA in kids ● Insulin is an option, but often start with oral agents (all of which drop A1c by 1-2%) ● Metformin is usually what’s used first T1DM: patients are younger at onset ● Anti-islet cell, anti-GAD, anti-insulin, anti-IAZ antibodies ○ T-cell mediated process; ab are just marker of cell destruction ● Check for insulin production in 1-2 years to distinguish (if still making insulin, probably T2DM) ● Honeymoon phase: still making insulin. high blood glc is toxic to beta cells. When you start insulin, decreased glucose increases beta cell function; can stop insulin for a while. DKA vs HHS ● DKA: ketoacidosis with elevated gap, ketones in urine ● HHS: lactic acidosis with elevated gap, few ketones in urine Insulin regimens: think basal/bolus ● TDD: 0.8-1.0 U/kg/day; if still making insulin 0.5-0.6 u/kg/day ● Basal: usually lantis, qd. 50% TDD ○ Should keep you steady overnight - check trajectory of glucose during the night. ● Bolus: novolog, humalog, epidra. 50% TDD ○ I:C ratio = 450/TDD (x units insulin per g of carb) ■ Should keep you the same before / after meal - check before/after at a time when no correction dose was given to assess ○ Correction dose = 1800 / TDD (give 1 unit insulin per x mg/dL glc over target) ■ Should bring you to your target if the I:C ratio is correct - once you have the I:C ratio right, then see if you’re hitting the mark with correction doses. Somogyi phenomenon: nocturnal hypoglycemic episodes (night terrors, H/A, early morning sweating) then present a few hrs later with hyperglycemia, ketonuria, glucosuria (counter-reg hormones responsible) DKA management: ● Fluid resuscitation: calculate fluid deficit, replace over 24h. Run lac ringers or IVNS @
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10mL/kg to start. ● Insulin drip @ 0.1 U/kg/hr; goal to decrease glucose 50-100 mg/hr (too fast a drop = cerebral edema!) ○ Add dextrose when glucose approaches 250-300 to prevent hypoglycemia ● Monitor for hypokalemia frequently & replace (total body K is down!) Hypoglycemia: sympathetic symptoms (sweating, shaking, tachycardia, anxiety) & neuro sx (H/A, confusion, irritability, lethargy, coma, etc) ● If glucose < 50 mg/dL, get a critical sample (CMP with bicarb, insulin, c-peptide, cortisol, GH, free fatty acids, beta-hydroxybutyrate, acetoacetate, lactate, ammonia) to help determine etiology later! Diabetes insipidus: not enough ADH. From brain tumors, CNS infections, surgical removal of craniopharyngeoma ● Polydypsia, polyuria; dx with dilute urine (SG < 1.010, Uosm < 300) in setting of hypertonicity (hyperNa) ● Usually not a problem unless not taking in enough water. Treat with DDAVP SIADH: too much ADH. Psych dz, encephalitis, drugs (lisinopril, carbamazepine, TCAs) ● normovolemic hyponatremia with concentrated urine, normal renal fxn. Na < 125 = sx ● Dx of exclusion - r/o hyperglycemia, increased serum lipids. ● manage with fluid restriction; acutely can use hypertonic saline to raise Na by 0.5 mEq/hr, max 12 mEq/hr to avoid central pontine myelinolysis
Congenital Adrenal Hyperplasia
21 hydroxylase deficiency: 90% of CAH cases, aut rec trait, can be salt wasting or virilizing ● Need 21 hydroxylase to make aldosterone / cortisol; if not, precursors back up & end up with androgens ● Decreased cortisol / aldosterone --> increased ACTH, 17 hydroxyprogesterone
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○ Virilization with low BP, salt wasting, low cortisol - FTT, shock, dehydration, hypoNa/hyperK ○ Females: ambiguous genitalia with normal ovarian development / internal structures ○ Males: no genital abnormalities ● Will need cortisol therapy and fludrocortisone if needed for mineralocorticoid replacement 11 hydroxylase deficiency: also autosomal recessive ● Inhibits aldosterone, cortisol production again, but deoxycorticosterone precursor has mineralocorticoid activity - so you get hyperNa, hypoK, HTN along with increased androgen levels Addison disease: primary adrenal insufficiency. ● Congenital (adrenal hypoplasia, ACTH unreponsiveness) or acquired (W-F syndrome with meningococcus, adrenal hemorrhage). autoimmune more common in older kids / adolescents & a/w DM type 1, thyroditis, etc. ● Weakness, N/V, wt loss, H/A, salt craving, postural hypotension; can get increased pigmentation (melanocyte stimulating hormone ramped up with increased ACTH) Addisonian tan. ● Adrenal crisis: fever, vomiting, dehydration, shock from illness, trauma, surgery emergency! ● See hypoNa, hyperK, hypoglycemia, mild met acidosis ● Treat with corticosteroids, stress dose when needed. Need mineralocorticoids too if whole adrenal involved. Secondary adrenal insufficiency: caused by ACTH deficiency (usually withdrawal of chronic steroid therapy, more rarely from pituitary tumors, etc). ● Sx like primary AI, above; treatment similar but don’t need mineralocorticoids if just ACTH deficient. Cushing’s syndrome ● Cushing’s disease: bilateral / congenital adrenal hyperplasia from pitutiary adenoma is #1 cause in kids (after exogenous corticosteroids, of course) ● Dx: elevated serum cortisol, 24h urine free cortisol, midnight salivary cortisol ○ if high, go on to dexamethasone suppression test (dexamethasone in late evening won’t suppress cortisol in morning). high dose dexamethasone suppression: can’t suppress exogenous ACTH (e.g. SCLC); much less common in kids though. ● Tx: remove adrenal tumors if present Congenital hypothyroidism:see constipation, prolonged jaundice, sluggishness, poor feeding, apnea, choking, macroglossia, excessive sleepiness. ● Avoid delays: initiate oral levothyroxine. ● low FT4, high TSH. 90% in US have thyroid dysgenesis. Screened as neonates. Pseudohypoparathyroidism (Albright hereditary osteodystrophy) - PTH-resistant at
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receptor level ● Chemical findings of hypoparathyroidism (low Ca, high phos) but high PTH ● Short stature with delayed bone age, MR, increased bone density esp in skull, brachydactyly of 4th and 5th digits, obesity with round faces, short neck, subcapsular cataracts, cutaneous and subQ calcifications, perivascular calcifications of the basal ganglia.(they’re PTH-resistant at receptor level)
Fluids MIVF: Remember: 100/50/25 mL/kg/day, or 4/2/1 mL/hr (for first 10kg/ second 10 / rest of kg) ● Short-cut: if over 20 kg, needs wt in kg + 40 mL/hr ● Use D5W ¼ or ½ NS + 20 mEq KCl (¼ for younger kids, ½ for older; add K if needed) Dehydration:
Replacing losses: calculate deficit from above. Replace half over first 8 hours, rest over next 16h ● If they got a bolus already, subtract that from the first half. If unstable, give 20 cc/kg boluses until they’re not unstable anymore. ● Example: 20kg kid who is 10% dehydrated (moderate) and got a 20 mL/kg bolus in the ED ○ Deficit = 2kg = 2,000 mL. Want to replace 1,000 in first 8 hours, 1,000 in next 16 hours ○ MIVF for him is 60 mL/hr ○ First 8 hrs: 1,000 - 400 cc bolus already given = 600 over 8 hrs = 75 cc/hr. Add in MIVF: give 75cc/hr + 60 cc/hr = 135 cc/hr ○ Next 16 hrs: 1,000 cc / 16 hr = 62.5 cc/hr. Add in MIVF: give 62.5cc/hr + 60cc/hr = 122.5 cc/hr Hyperkalemia: if K > 5.8. Often artifactual (hemolysis) but recheck. ● Paresthesias, weakness, flaccid paralysis, tetany. ● EKG: peaked T-waves, wide QRS. V-Fib, code @ ~ 9 mEq/L ● Treat with calcium gluconate to stablize the membrane; can have them hyperventilate too (alkalosis --> exchange K for H, drives inside), insulin + glucose to drive inside also, then Kayexylate or other exchange resin to get out of body.
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Hypokalemia: if K < 3.5. Think loop diuretics or vomiting induced alkalosis, or ketoacidosis ● Weakness, tetany, constipation, polyuria/polydypsia ● EKG: flattened T waves, prolonged QT. Treat by correcting pH, replentishing K orally or IV.
Genetics & Other Congenital Stuf Teratogens Drug
Results
Warfarin (Coumadin)
Hypoplastic nasal bridge, chondrodysplasia punctata
Ethanol
Fetal alcohol syndrome, microcephaly, CHD (septal defects, PDA)
Isotretinoin (Accutane)
Facial and ear anomalies, CHD
Lithium
CHD (Ebstein anomaly, atrial septal defect)
Penicillamine
Cutis laxa syndrome
Phenytoin (Dilantin)
Hypoplastic nails, intrauterine growth retardation, cleft lip and palate
Radioactive iodine
Congenital goiter, hypothyroidism
Diethylstilbestrol
Vaginal adenocarcinoma during adolescence
Streptomycin
Deafness
Testosterone-like drugs
Virilization of female
Tetracycline
Dental enamel hypoplasia, altered bone growth
Thalidomide
Phocomelia, CHD (TOF, septal defects)
Trimethadione
Typical facies, CHD (TOF, TGA, HLHS)
Valproate
Spina bifida
Chromosomal disorders Trisomy 21: ● 5th finger brachydactyly & clinodactyly, upslanting palpebral fissures, epicanthal folds, redundant nuchal skin, single transverse palmar crease, Brushfield spots (white/gray spots in periphery of iris), flat facial profile, small, rounded ears, hyperflexible joints, poor Moro reflex, brachycephaly, wide 1st/2nd toe spacing, short stature. hypotonia & often slower feeding noted early on. ● A/w advanced maternal age. 95% from nondysjunction ○ also translocation (can be familial), mosaicism as less frequent causes. ● A/w cardiac defects (50%) incl endocardial cushion (60%), VSD (30%), Tet of Fallot (6%), also duodenal atresia (12%, see double-bubble pattern, have bilious emesis after first feedings). Other associations: hearing loss, strabismus, cataracts, nystagmus,
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congenital hypothyroidism (evaluate with optho, thyroid, hearing). ● Higher risk leukemia, Alz dz later on. IQs can vary widely. ● May have cervical spine instability: careful with activities that may involve forceful flexion Trisomy 18: Edwards Syndrome ● Low-set, malformed ears, microcephaly, rocker-bottom feet, inguinal hernias, cleft lip/ palate, micrognathia, clenched hands with overlapping digits, small palpebral fissures, prominent occiput, small pelvis, short sternum, cardiac defects (VSD/ASD/PDA, coarcs). Trisomy 13: Patau Syndrome ● microcephaly, sloping forehead, holoprosencephaly, cutis aplasia (missing part of skin & hair), polydactyly, microphthalmia, coloboma, omphalocoele. Also cleft lip / palate, cardiac defects (VSD/ASD/PDA/dextrocardia), hypersensitivity to atropine / pilocarpine containing agents. Triple screen (UE3 = unconjugated estradiol) AFP
UE3
hCG
Associated conditions
low
low
high
Down Syndrome
low
low
low
trisomy 18 (Edward's syndrome)
n/a
neural tube defects like spina bifida associated with increase levels of acetylcholinesterase in aminonic fluid, or omphalocele, or gastroschisis, or multiple gestation
high
n/a
Rett syndrome: MECP2 gene on X chromosome. Girls afected. ● normal at birth but then rapid decline 6-18 mo with loss of use of hands, sterotyped hand-wringing behaviors, lose ability to communicate / socialize Holt-Oram syndrome: abnormalities in upper extremities, hypoplastic radii, thumb abnormalities, cardiac abnormalities. May be missing pectoralis major muscle too.
Sex Chromosome Disorders Klinefelter Syndrome (XXY): behavior problems (immaturity, insecurity), developmental delay (speech, language, lower IQ), gynecomastia, hypogonadism, long limbs. Often undiagnosed until puberty. T replacement can allow for more normal adolescent development (but azoospermia is the rule); also incr risk breast cancer! XYY males: classically “juvenile delinquents” (explosive tempers), severe nodulocystic acne, mild pectus excavatum, large teeth, prominent glabella, relatively long face / fingers, poor fine motor skills (penmanship), low-normal IQs. Long, asymmetrical ears. Tend to be taller than peers, aggressive starting at age 5-6 Turner syndrome: primary amenorrhea, short stature, hypertension (horseshoe kidney), coarctation of the aorta (and bicuspid aortic valve), low posterior hairline, prominent, low-set ears broad “shield” chest with widely spaced nipples, excessive nuchal skin,
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hypothyroidism, decreased hearing, edema in hands/feet as newborns, cubitus valgus (increased carrying angle of arms). Normal mental development. Fragile X: #1 cause inherited mental retardation. Mostly in boys; intellectual disability + macrocephaly, long face, high arched palate, large ears, macroorchidism after puberty. VATER: Vertebral probs, Anal anomalies, Tracheal defects, Esophageal abnltys, Radius or Renal abnormalities Potter sequence: lack of nl infant kidney fxn --> reduced urine output --> oligohydranmios --> constraint ● deformities: wide-set eyes, flattened palpebral fissures, prominent epicanthus, flattened nasal bridge, micrognathia, large, low-set ears
Storage disorders Disease
Deficient/ builds up
Features
TaySachs
B-hexosaminidase A (a GM2 gangliosidosis)
Aut-rec, esp Ashkenazi Jews. Normal-appearing at birth, then progressive developmental deterioration, not looking at parents, increased “startle.” Cherry-red spots in macula, sensitive to noise.
Sandhof
B-hexosaminidase A&B (a GM2 gangliosidosis)
Niemann Pick
Sphingomyelinase
Normal-appearing at birth, then hepatosplenomegaly, LAD, psychomotor retardation in first 6 mo, then regress more
Gaucher
B-glucosidase
Increased tone, strabismus, organomegaly, FTT, several years of psychomotor regression before death. Classically can see flask-shaped bones, eg. femur, on xray
Krabbe
galactocerebrosid ase
Early in infancy: irritability , hypertonia, optic atrophy, severe delay & death in first 3 years of life
Fabry
B-galactosidase
Older childhood: angiokeratomas in “bathing trunk area”; severe pain episodes, acroparesthesias (numbness / tingling in extremities), can have cataracts too
Hurler
a-iduronidase
A mucopolysaccharidosis. coarse facies, corneal clouding, kyphosis, hepatosplenomegaly, umbilical hernia, congenital heart disease. Aut-rec
Hunter
iduronate-2sulfatase
A mucopolysaccharidosis. Like Hurler’s but X-linked & no corneal clouding
Cherry red spot: think GM2 gangliosidoses (Tay-Sachs, Sandhof) or Niemann-Pick ● Represents center of normal macula surrounded by lipid-laden gangion cells.
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Metabolic disorders When these kids get sick, give them glucose (they go crazy catabolic & all kinds of stuf builds up--> big time high AG met acidosis, and they get in trouble fast).
Galactosemia (a disorder of carbohydrate metabolism)
Presents in first weeks of life (formula / breast milk) FTT, dehydration, listlessness, irritable, jaundiced (indirect hyperbili), elevated LFTs, hypoglycemia, normal serum ammonia, mouse-like urine odor. Also may have cataracts, ascites.
PKU (a disorder of amino acid metabolism)
Sx develop in childhood (unlike other AA disorders) Moderate-severe MR, hypertonia, tremors, behavioral problems. Light complexion, fair skin, blonde hair (tyrosine needed for melanin!) mouse-like urine odor. If mom has PKU & isn’t managing her diet, baby can have MR, CHD, etc.
Homocystinur no sx in infancy but look like Marfan’s. ia (d/o of Vascular thromboses --> childhood amino acid stroke, MI metabolism)
OTC Deficiency (AA / urea cycle disorder)
Most commonly deficiency in galactose-1-P uridyl transferase. Higher risk for e. coli sepsis. Tx: remove galactose from diet.
Deficiency in phenylalanine hydroxylase (can’t convert phenylalanine to tyrosine). Neonatal screened. Tx: restrict phenylalanine consumption
Cystathione synthetase deficiency (can’t convert met to cys/ser). Dietary management hard (low protein, foul tasting). 50% respond to high dose pyridoxine
Presents 24-48h after proteins introduced in feeds - lethargy, coma/seizures, high ammonia.
X-linked OTC deficiency. Urea cycle problem (ornithine + carbamylphosphate --> citrulline in mito). Can’t make Can measure level of orotic acid (byproduct urea = ammonia builds up! of carbamoylphosphate metabolism) in urine Tx: very low protein diet to help dx (but really hard)
Glycogen storage diseases: all aut-rec, growth failure, hepatomegaly, fasting hypoglycemia ● Type I: von Gierke, type II: Pompe, type V: McArdle ● Treat: prevent hypoglycemia while simultaneously avoiding even more glycogen storage.
Other Inherited Disorders Autosomal Dominant Chr
Gene
Comments
19
Achondroplasia
4p
FGFR3
80% new mutations; proximal limb shortening
Adult polycystic kidney dz
16p
PKD1/PKD2
Renal cysts, intracranial aneurysm
Hereditary angioedema
11q
C1NH
Deficiency of C1 esterase inhibitor; episodic edema
Hereditary spherocytosis
8p, 14q ANK1
Osmotic fragility test; some aut-rec variants too, spherocytes & anemia
Marfan syndrome
15q
FBN1
Aortic root dilatation, tall stature, hyperextensible long tapering fingers, etc.
Neurofibromatosis
2p, 17q, 22q
NF1/NF2
50% new mutations; café au lait spots
Protein C deficiency
2q
Multiple genes
Hypercoagulable state
Tuberous sclerosis
9q, 12q, 16p
TSC1, TSC2, TSC3, TSC4
“Ash-leaf” spots; seizures
von Willebrand disease
12p
Multiple genes
Abnormal platelet fxn & reduced factor VIII, ristocetin cofactor assay
Autosomal recessive Chr
Gene
Comments
Congenital adrenal hyperplasia
6p
CYP21A2, CYP11A1, CYP17, ACTHR
Multiple types - salt-wasting, virilization, etc.
Cystic fibrosis
7q, 19q
CFTR
Caucasians; pancreatic insufficiency, lung dz, etc.
Galactosemia disorder
9p
GALT
Carbohydrate metabolism
Gaucher disease
1q
GBA
Ashkenazi Jews. Lysosomal storage disorder
Infantile polycystic kidney
6p (or 16p = PKD1, TSC2)
PKD3
Renal and hepatic cysts, hypertension
Phenylketonuria
12q
PAH
Amino acid metabolism disorder
Sickle cell disease
11p
HBB
Incr. in AA. Sickle crises,
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autosplenectomy, etc. Tay-Sachs disease
15q
HEXA
Ashkenazi Jews. Lysosomal storage disorder
Wilson disease
13q
ATP7B
Defective copper excretion – chorea, KF-rings
X-linked recessive Comments Bruton agammaglobulinemia
Absence of immunoglobulins; recurrent infections
Chronic granulomatous disease
Defective killing by phagocytes; recurrent infections
Color blindness Duchenne muscular dystrophy
Proximal muscle weakness; Gower sign
Glucose-6-phosphate dehydrogenase
Oxidant-induced hemolytic anemia deficiency, incr. in AA
Hemophilias A and B
Factor VIII / IX deficiency
Lesch-Nyhan syndrome
Purine metabolism disorder; self-mutilation
Ornithine transcarbamylase deficiency
Urea cycle disorder; hyperammonemia
Imprinting (or from uniparental disomy) - the 15q11-13 disorders ● Prader willi - missing the Parental copy. ○ almond shaped eyes, down-turned mouth, small hands/feet, short stature, hypogonadotropic hypogonadism, incomplete puberty, hypotonia (FTT in infancy), then uncontrollable appetite --> severe central obesity (lock the food away!). OSA, pickwickian syndrome can result. ○ mild MR with characteristic impulse control too ● AngelMan syndrome: missing the Maternal copy. ○ maxillary hypoplasia, large mouth, prognathism, short stature. ○ Severe MR with impaired / absent speech & inappropriate paroxysms of laughter ○ Jerky arm movements, ataxic gait, tiptoe walk = “happy puppet” syndrome
GI/Nutrition Normal caloric requirements: ● 120 kcal/kg/d in first year of life ● 100 kcal/kg/d afterwards ● 50-100% more if FTT for catch-up growth Formula has 20 kcal/oz (30cc = 1 oz) generally (if prepared properly)
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Feeding: ● Breast exclusively + vitamin D, iron for first 6 months (or formula) ● Add iron fortified cereals at 4-6 months ● Start baby foods at 6 months (fruits, veggies); introduce one new food at a time. ● Whole milk at 12 months until 24 months; skim milk at 24 months ● Don’t prop bottle! get caries! Colic: recurrent irritability, several hours long, late afternoon/ evening, draws knees to abdomen & cries inconsolably, but then stops spontaneously Formula/milk/table food & nutrient deficiencies: ● Goat’s milk lacks folate, B12, iron. If unpasteurized, brucellosis can be a problem ● Breast milk lacks vitamin D. Can exacerbate jaundice (higher unconjugated bilirubinemia; 12-24h hiatus to fix), and associated with low vitK levels (but given at birth). Breast-feeding vegan moms are given B12 (may be deficient; child could develop methylmalonic acidemia); so are vegan toddlers. ● Whole milk is low in iron; table foods don’t have iron either - so if a kid is switched to whole milk, table foods at too young an age, can develop iron deficiency anemia Breast feeding ● Contraindications: active pulm TB, HIV, also malaria, typhoid fever, septicemia, antineoplastic agents ● OK: mastitis (frequent feedings can help by preventing engorgement!), mild viral illness, cracked / bleeding nipples (despite discomfort) OK for breast-feeding mom
Contraindicated for breast-feeding mom
Most antibiotics except for tetracycline Sedatives, narcotics (but monitor for sedation)
Lithium, cyclosporin, antineoplastic agents, illicit drugs, ergotamines, bromocriptine (suppresses lactation), tetracycline
Galactosemia: deficiency of uridyl transferase; results in jaundice, hepatosplenomeg, vomiting, hypoglycemia, sz, lethargy, irritibility, poor feeding & FTT, aminoaciduria, liver failure, MR, incr. risk E. coli sepsis ● Sx when taking milk; manage with lactose-free formula like soy milk
Toxicities: Toxicity
Sx / Dx
Lead
Look for hx of exposure Sx: anorexia, hyperirritability, altered speech pattern developmental regression, abdominal complaints. Can progress to encephalopathy (vomiting, ataxia, altered MS, coma, sz). Dx: blood lead level. Also stored in bone (lvls can rise after chelation as Pb released from bone!)
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Tx: ● Education, environmental eval, etc. ● Chelation if Pb > 45 (DMSA/succimer or CaEDTA). ● Hospitalize & chelate if BLL > 70. Admit if symptomatic Organophospha te
(cholinesterase inhibitors) - insect sprays, etc DUMBBELS (diarrhea/defecation, urination, miosis, bradycardia, bronchorrhea, emesis / excitation of muscles, lacrimation, salivation) Tx: Atropine (anticholinergic), Pralidoxime (regenerate cholinesterase)
Orellanin Toxin found in Cortinarius spp of mushrooms e ● Nausea, vomiting, diarrhea with renal toxicity a few days later PCBs
Polychlorinated biphenyls; cross placenta / go to breast milk, ? cause behavioral probs later
Cyanide
Headache, agitation, seizure, dysrhythmia, severe metabolic acidosis
Mercury elemental
Methyl mercury
No sx if just a small bit (thermometer) GI complaints if elemental, ingested GI, fever, chills, H/A, vis changes, pneumonitis, chest pain if elemental inhaled. (contaminated fish) Adults: fine tremors in upper extrem, blurry vision, anosmia / taste probs, dementia, death Infants exposed in utero: LBW, microcephaly, sz, developmental delay, vision/hearing probs
Inorganic mercury
(felt, “mad hatter”) Gingivostomatitis, tremor, neuropsych disturbances
Arsenic
Nausea, vomiting, abdominal pain, diarrhea; can get third spacing / hemorrhage in gut; also long QT, CHF, sz, cerebral edema, coma. Get loss of DTRs, paralysis, dysesthesias neuro-wise
TCAs
Smaller kids: CNS sx predominate (drowsy, lethargic, coma, seizures) Older kids: Cardiac sx predominate (wide QRS, bundle branch blocks) Tx: admit to ICU, give TCA Fab fragments if available
Acetamin o-phen
Nausea, vomiting, diaphoresis over 24-48h Peak liver function abnormalities in 2-3 days; either recover or get worse in 2-3 wks Treat with n-acetylcysteine
Anticholinergi cs
atropine, 1st generation antihistamines, etc. Mad as a hatter, red as a beet, blind as a bat, hot as a hare, dry as a bone Tx: physostigmine in select cases. Use activated charcoal
CO
lethargy, irritability, confusion, dizziness, H/A, cyanosis, palpitations Dx: blood carboxyhemoglobin levels. See met acidosis with normal PaO2 on blood gass, also myoglobinuria) Tx: oxygen (normobaric 100%, hyperbaric if available for severe poisoning)
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Ethylene glycol
Antifreeze, radiator fluid, etc. Anorexia, vomiting, lethargy. Check serum level, high AG met acidosis. envelope-shaped calcium oxylate crystals in U/A Treat with fomepizole (blocks metabolism), can use NaHCO3 to correct met acidosis
Methanol
N/V, inebriation, increase in minute ventilation as met acidosis develops, blurred vision Get serum methanol level; high AG met acidosis Treat with ethanol to block metabolism, NaHCO3 to correct met acidosis
Salicylate s
Hypernea / tachypnea: mixed respiratory alkalosis & metabolic acidosis (see increased pH with decreased PCO2 and bicarb). get serum salicylate level Treat with activated charcoal & alkalinize serum, correct hypoK
Activated charcoal: ● Good for enterohepatic circulation drugs (TCAs, pentobarb) and those with prolonged absorption (e.g. sustained release theophylline) to clear out from gut ○ Administer during first few hours after ingestion if indicated. ● Not good for alcohols, acids, ferrous sulfate, strong bases (drain cleaners, oven cleaners), cyanide, lithium, potassium - not absorbed by particles on surface
Nutrients: Nutrient
Deficiency
Excess
Vitamin A
Night blindness, xeropthalmia (dry eyes), keratomalacia (dry cornea), conjuncitivitis, poor growth, impaired resistance to infection, abnormal tooth enamel development
Increased ICP, anorexia, carotenemia, hyperostosis (pain, swelling of long bones), alopecia, hepatomegaly, poor growth
Vitamin D
Rickets (elevated serum phosphatase levels before bone deformities), osteomalacia, infantile tetany. See low 24OHD, low Ca, elevated alk phos, poor bone mineralization, increased fx risk. Usually normal serum Ca, but low serum phos.
Hypercalcemia, azotemia, poor growth, N/V/D, calcinosis of a variety of tissues, including kidney, heart, bronchi, stomach
Vitamin E
Hemolytic anemia in preemies
Unknown
Vitamin C (ascorbic acid)
Scurvy, poor wound healing
Can predispose to kidney stones (calcium oxalate). Also diarrhea, cramps
Thiamine (B1)
Beriberi (neuritis, edema, cardiac failure), hoarseness, anorexia, restlessness, aphonia
Unknown
24
Riboflavin (B2)
Photophobia, cheilosis, glossitis, corneal vascularization, poor growth
Unknown
Niacin
Pellagra (dementia, dermatitis, diarrhea)
Nicotinic acid = flushing, pruritis
Pyridoxine (B6)
Infants: irritability, convulsions, anemia. Older patients on isoniazid: dermatitis, glossitis, cheilosis, peripheral neuritis
Sensory neuropathy, also fever & pain
Folate
Megaloblastic anemia, glossitis, pharyngeal ulcers, impaired cellular immunity
Usually none
B12
Pernicious anemia, neuro deterioration, methylmalonic acidemia
Unknown
Pantothenic acid
Rarely depression, hypotension, muscle weakness, abdominal pain
Unknown
Biotin
Dermatitis, seborrhea, anorexia, mm pain, pallor, alopecia
Unknown
Vitamin K
Hemorrhagic manifestations
Water-soluble forms can cause hyperbilirubinemia
Biliary Atresia: bile duts blocked, fibrotic --> no bile flow into bowel. ● Kasai procedure (bowel loop forms duct to drain bile from liver) can be useful. Poor bile flow (biliary atresia, liver failure) = poor ADEK absorption Primary (familial) hypophosphatemia: #1 cause of nonnutritional rickets, X-linked dominant dz ● abnl phosphate reabsorption; abnl 25vitD to 1,25vitD conversion in prox tubules of kidney abnormal ● Low 1,25vitD, low=normal Ca, low phosphate, elevated alk-phos, hyperphosphaturia, no hyperPTH ● Smoother lower extremity bowing (Ca-dependent rickets = more angular), waddling gait, no rachitic rosary, tetany, etc. Renal osteodystrophy: low/nL serum ca, incr. serum phosphorus, incr. alk phos. ● Hypophosphaturia --> hypocalcemia --> incr. PTH --> more bone turnover ● also low production of 1,25vitD with kidney damage DDx of rickets: Schmid metaphyseal dysplasia (aut-dom, short stature, bowing legs, waddling gait)
25
● irregular long bone mineralization but normal Ca/phos/alk phos levels.
26
Comparison of Ca/Phos/PTH disorders Ca
Vitamin-D resistant rickets
NL
Pho s
Low
PTH
Other
NL
Genetic problem in tubular reabsorption of phosphate = pee it out, low in blood; also abnormal 25vitD-1,25 convers. X-linked dominant (family history of fx, low bone calcium density)
Pseudohypoparathyroidism
Low
High HIGH
AKA Albright hereditary osteodystrophy, like hypoparathyrodism with high PTH. Also obesity, brachydactaly of 4th/5th digits, cataracts, calcifications in brain (periventricular & in basal ganglia)
Osteogenesis Imperfecta
NL
NL
blue sclera, easily broken bones - abnormality in production & composition of bone matrix with normal ca/phos
Hypoparathyrodi sm
Low
High LOW
unusual outside of neonatal period - low PTH --> reduced bone resorption, reduced excretion of phos & reduced 1,25vitD formation in prox tubule = low Ca, High phos. Can see numbness, tingling, seizuers / tetany
Medullary thryoid Ca
NL
NL
MTC may make calcitonin but normal ca/phos/PTH unless MEN type II (with associated hyperparathyroidism)
NL
Intussusception: ● (bilious) emesis + intermittent abdominal pain, bloody stools (currant jelly = late finding), kid draws up knees in pain. ● classically sausage-shaped / tubular mass on exam, often with lead point (lymphoma, meckel’s diverticulum, etc) around ileocecal valve ● get air contrast enema for dx / tx Malrotation/volvulus: think about in neonates with bilious emesis 2/2 obstruction. ● If prolonged, can have necrotic bowel - melena/hematochezia, peritonitis, acidosis, sepsis ● Malrotation: incomplete intestinal rotation in first trimester ○ Ligament of treitz - usually fixes duodenojejunal junction to L spine; here, ligament on R side, small bit of mesentary can be axis for gut to turn around ● Volvulus: mesentary twists around small intestine --> decreased perfusion, ischemia, necrosis ○ Classic findings: corkscrew pattern of duodenum (barium going through twisted portion, looks like corkscrew), or “bird’s beak” of 2nd/3rd duodenal portions. Get upper GI series to evaluate. ○ Requires emergent surgical intervention after fluid status evaluated & fixed if
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neded. ■ Also place NG tube to decompress; get cx and initiate IV abx (sepsis workup) ■ Surgery: get an appendectomy & fix bowel to abdominal wall Pyloric stenosis: increasing projectile emesis (nonbilious) with olive shaped abdominal mass, visible peristaltic waves; labs have hypochloremic metabolic alkalosis ● 4x more common in males, 1st born kids; presents in 3rd-8th wk life. Associated with erythromycin. ● dx: can confirm with abd U/S. Upper GI shows “string sign” (thin line of contrast going through stenosis) ● Treatment: NG placement; correct dehydration / alkalosis / etc. Pyloromyotomy when stable. Appendicitis: classically abdominal pain followed by nausea / vomiting; periumbilical to RLQ migration Bloody emesis: think about M-W tears, NSAIDs, liver dz; also think juice, beets, red jello, liquid meds Black stool: think about diarrhea, constipation / tears, etc; also think Fe ingestion, bismuth, blackberries Gastric lavage can help determine if upper GI & brisk (prox to ligament of Treitz) or lower GI in bloody stools.
Classic findings for abdominal pain (infants, young kids): Condition
Signs, sx
Abdominal migraines
Recurrent abd pain with emesis
Appendicitis
RLQ pain with guarding & rebound
Bacterial enterocolitis
Diarrhea (+/- bloody), fever, vomiting
Cholecystitis
RUQ pain
Diabetes mellitus
Polys + weight loss
HSP
Purpuric lesions, joint pain, blood in urine, guiac + stools
Hepatitis
RUQ pain & jaundice
Incarcerated inguinal hernia
Inguinal mass, lower abd / groin pain, emesis
Intussuception
Colicky abdominal pain, currant jelly stools
Malrotation with volvulus
Abd distention, bilious vomiting, blood per rectum, presenting in infancy
Nephrolithiasis
Hematuria, colicky abdominal pain
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Pancreatitis
Severe epigastric abd pain with fever, persistent vomiting
PNA
Fever, cough, rales
SBO
Emesis, often hx prior abdominal surgery
Strep pharyngitis
Fever, sore throat, headache
Testicular torsion
Testicular pain, edema
Urinary tract infection
Fever, vomiting, diarrhea in infants; back pain in older kids
Tracheo-esophageal fistula: ● most commonly involves esophageal atresia (blind pouch) with esophagus coming of of trachea proximal to karina. Associated with VATER (Vertebral abnormalities, Anal abnormalities, T-E fistula, Radial/Renal anomalies); DiGeorge syndrome (VSD, great vessel problems, esophageal atresia, bifid uvula, etc). ● Dx: Polyhydramnios in utero. After birth: failure to pass orogastric tube in a newborn who’s choking; see coiled tube on film. At risk for aspiration (suction constantly while awaiting surgery) ○ H-type TEF can present later (several months of age with recurrent aspiration PNA) ○ Can also see with modified barium swallow with fluoro Eosinophilic esophagitis: intermittent vomiting, dysphagia, epigastric pain; food getting “stuck”, no help from acid blockade (vs GERD). ● Eosinophils on biopsy. Can have atopic / food allergy hx. Rx with corticosteroids. Peptic ulcer disease: kid with FHx PUD or PUD sx, nocturnal abd pain, GI bleeding (pain #1 sx) ● Get upper GI endoscopy ● Test for H. pylori (e.g. urea breath test), treat with acid blockade / abx triple therapy Hirschprung: suspect in children with intractable chronic constipation without fecal soiling ● Neonatal hx delayed passage of meconium - can have distention, N/V ● Also at risk of developing enterocolitis. ● Bx: increased acetylcholinesterase, absence of ganglia cells. ○ Also have failure of internal sphincter to relax with balloon distention of the rectum on anal manometry. Can see transition zone on contrast enema (dilated proximal bowel; abnormally narrow distal segment which is aganglionic). ● Tx: surgery (colostomy, pull-through) ● Vs functional constipation where you more often see overflow diarrhea Meckel diverticulum: painless rectal bleeding in first 2 years of life ● remnant of the vitilline duct (connects yolk sac / intestine; here stays as diverticulum connected to ileum) ● 1.5% of population has it, but rarely causes symptoms ● If symptomatic, usually has acid-secreting gastric mucosa in lining; can lead to ulcerations, bleeding, diverticulitis, rarely perforation or can undergo eversion /
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intussuception ● Dx with Tec-99 scan (labels gastric mucosa), fix with surgical excision. Overweight Syndromes: ● Prader-Willi: hypotonia, hypogonadism, hyperphagia after newborn period, MR, obesity ○ deletion in Paternal chromosome 15. Little in utero movement. ○ hypotonic as neonates and can initially have FTT / feeding problems ● Laurence-Moon-Biedel (Bardet-Biedel): aut-rec trait, obesity, MR, hypogonadism, polydactyly, retinitis pigmentosa with night blindness ● Frohlich syndrome: childhood obesity associated with hypothalamic tumor
GU/Urinary Labial adhesions: benign condition, fused labia majora, common in preadolescent (low estrogen) girls ● Can cause urine pooling - increased UTI frequency ● Will resolve with puberty / estrogen, but can also apply estrogen cream x 1 week to help resolve. Non-specific vulvovaginitis: brown, green discharge, malodorous, burning with urination = urine on irritated skin ● Check for bubble baths, tight fitting clothes, perfumed lotions used in vaginal area, improper toilet habits (wiping toward vagina) Foreskins & stuf ● adhesions between glans / prepuce lyse within first 3 years of life in 90%, glans exposed ○ Can see cellular debris (white) under foreskin, not abnormal, no tx needed ● Phismosis = inability to retract foreskin. Physiologic in first years of life. After age 3, pathologic ● Paraphismosis = painful, foreskin gets retracted, trapped behind glans --> edema, venous congestion --> can’t get it back into place! Hypospadius: Don’t circumcise! They might need that tissue for repair. Cryptorchidism: increased risk of malignancy. A/W inguinal hernias too ● Spontaneous descent unlikely after 3 mo of age (operate btwn 6-12mo). Bring it down & fix it in place (orchiplexy) for easier exams, also reduces risk of torsion (high if floating around in abdomen!). but doesn’t decrease risk of malignancy. Testicular torsion: Causes majority of acute scrotal pain / swelling in boys > 12 years. Testicle is elevated! Usually unilateral; can wake child from sleep / cause N/V. ● Bell-clapper deformity: mobile testis (posterior attachment to tunica vaginalis missing. ● Get surgical consult right away! Don’t mess around with delay for doppler (need to get in there & fix it!) - get doppler later while waiting for surgical consult to come through. Try to manually detorse (open book) in ED also while waiting.
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● Blue dot sign on upper aspect of scrotum with normal cremasteric reflex suggests torsion of appendix testes (but should use U/S with doppler to r/o testicular torsion). Hydrocoele: Fluid filled sac in scrotal cavity. Remannt of processus vaginalis. May be communicating with periotoneal cavity - in which case you need to fix; o/w involute on their own. Varicocele: common, seen after 10 years of age, “bag of worms” above non-tender testis ● from dilated vv of pampiniform venous plexus (usually on left side) from incompetent valve of spermatic vein. Can cause reduced sperm counts; may need surgery if infertility problems ● diagnosis usually doesn’t need Doppler, can feel bag of worms and then reassure / educate unless probs. Epididymitis: see redness, warmth, scrotal swelling but preserved cremasteric reflex. Pain usually posterior (over epididymis). Vs torsion, here the testicle is not elevated
Hematology Anemia Physiologic anemia: nadir at 6 wks of age in preemie, 2-3 mo in term infant Microcytic anemia with decreased RBC production: impaired heme or globin production! ● thalassemias, iron deficiency, some anemia of chronic disease (all hypochromic too). Occasionally lead poisoning can do it too ● Iron deficiency anemia: low iron, high TIBC, low ferritin ○ If iron deficient - give oral iron (preferred form) ● Anemia of chronic disease / inflammation: low iron, low TIBC, high ferritin ● Thalassemias: ○ Alpha-thal: can be cis or trans (alpha deletions on one - cis - or both - trans genes). Think SE Asia, mediterranean, etc. ■ If homozygous (all four), then Hb Bart (4 gammas, hydrops fetalis) more common in SE asia because of more cis mutations. ■ If 3 mutations, HbH disease (4 B chains) after first few months of life. ■ if 2 mutations, alpha-thal minor (a little extra HbA2, HbF) ■ if 1 mutation, silent carrier ○ Beta-thal: deletions of beta gene. ■ if homozygous, beta-thal major (severe hemolytic anemia, splenomegaly, frontal bossing, prominent cheekbones, FTT, etc; death if not transfused a lot - but that has its own bad parts, like iron overload). ■ If heterozygous, beta-thal minor (hypochromia, microcytosis, but not really bad anemia; elevation of HbA2 level). Normocytic anemia with decreased red cell production: bone marrow not making RBC ● Transient erythroblastopenia of childhood: acquired pure red cell aplasia, usually preceded by viral infection, normocytic anemia. 85% after 1 year of age (vs diamond
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blackfan or physiologic nadir). ○ Gradual onset of pallor over weeks. Normal peripheral smear except for reticulocytopenia. ○ Hb is usually at nadir at dx time. Only transfuse if CHF developing ● Also on ddx: Parvovirus B19-induced aplastic anemia, drug tox from myelosuppressive agents, or acute blood loss. anemia of chronic disease can also be normocytic. Normocytic anemia with increased red cell production: most often hemolytic ● Extracorpuscular: extrinsic to red cell ○ Isoimmune: Ab from one individual destroying RBC of another. ABO/minor Ag incompatibility ○ Autoimmune: idiopathic, postinfectious (Mycoplasma pneumoniae, EBV), druginduced (PCN, quinidine, alpha-methyldopa), or chronic autoimmune dz (SLE) or malinancy (NHL) ○ The antibodies for either of the above can be... ■ Warm-reacting IgG: warm weather is Great; fix c’ but don’t activate the whole way, so removed extravascularly in RES. Id with Direct Coombs ■ Cold-reacting IgM: MMM - Cold ice cream; intravascular hemolysis since can fix C’ the whole way. Especially with mycoplasma, EBV, transfusion rxns ○ Non-immune: microangiopathic (DIC, TTP / HUS, malignant HTN, etc) or from artificial valves, AVMs, hypersplenism, toxins (snake venom, copper, arsenic), malaria, burns. ● Intracorpuscular: membrane defect ○ Hereditary spherocytosis: Aut-dom defect in ankyrin, spectrin proteins that support membrane. microspherocytes. Destroyed in microvasculature of spleen. ■ Positive osmotic fragility test and unconjugated hyperbilirubinemia. ■ Sx: Can range from asx to chronic transfusion requirement. Gallstones, cholycystitis, splenomegaly, pallor common. Susceptible to aplastic crisis. ■ Tx: folic acid supplementation (making lots of RBC!), transfusion as needed, splenectomy after 6 y/o ○ Sickle cell disease: Val for glutamate in 6th AA of beta-globin chain. ■ Dx with Hb electrophoresis. ■ Infancy: pallor, jaundice, splenomegaly, systolic ejection murmur. Dactylitis (avascular necrosis of MCP/metatarsal bones, painful) at 4-6 mo of age. ■ Childhood: delayed sexual development, splenic sequestration, aplastic / hyperhemolytic crises, auto-infarction of spleen eventually. Priapism in ages 6-20. ■ Adolescence: avascular necrosis of femoral head. ■ Vaso-occlusive crises too; can decrease with hydroxyurea therapy. Acute chest syndrome, strokes are other serious sequelae ○ G6PD: X-linked recessive. Mutation in hexose monophosphate shunt pathway;
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deplete NADPH and can’t regenerate reduced glutathione / protect RBC from oxidative stress. AA / Mediterraneans. ■ Oxidative stress (sulfonamides, nitrofurantoin, primaquine, dimercaprol) --> globin precipitates as Heinz bodies, damaged cells removed by RES / bite cells can form as heinz bodies eaten by RES cells. ■ Classic pres: episodic, stress / drug induced hemolytic anemia. ■ Dx: deficient NADPH formation on G6PD assay, but wait til acute hemolysis is done (most of deficient cells have been destroyed --> can give false-normal result!) ■ Tx: avoid drugs that induce hemolysis, transfuse, hydrate during crisis Megaloblastic macrocytic anemia with decreased RBC production ● B12 deficiency: B12 found in fish, meat, cheese, eggs. Combines with IF frmo gastric parietal cells, absorbed in terminal ileum. Can be due to dietary deficiency (rare except for in breast-fed babies of vegan moms), congenital or juvenile pernicious anemia (IF deficiency), ileal resection, small bowel overgrowth, Diphyllobthrium latum (fish tapeworm). ○ Glossitis, diarrhea, weight loss; paresthesias, peripheral neuropathies, post. column degeneration, dementia, ataxia; also vitiligo. See hypersegmented PMNs, howell-jolly bodies, nucleated RBC, megaloblastic RBC. ○ Dx with low B12; can diferentiate cause with Schilling test ○ Treat with monthly IM B12 (should see reticulocytes within 3 days, anemia better in 1-2 mo) ● Folate deficiency: found in liver, green veggies, cereal, meat/cheese with small stores (can get deficient in 1 month). Inadequate intake (goat’s milk, evaporated milk, heat-sterilized milk), impaired absorption (jejuanal processes - IBD, celiac), increased demand (hypethyroid, pregnancy, malignancy), drugs (phenytoin, phenobarb) ○ Glossitis, pallor, malaise, but no neuro deficits. Low RBC folate, normal B12. Same changes as B12 on peripheral smear. ○ Treat with folate 1mg PO x 1-2 mo with rapid clinical response - note that folate will correct the anemia of B12 deficiency, but won’t fix neuro problems! Megaloblastic macrocytic anemias ● Diamond-Blackfan Syndrome: congenital pure red blood cell aplasia, aut rec or aut dom ○ Anemia shortly after birth, macrocytic with reticulocytopenia. ○ See elevated HbF, fetal i antigen on RBC. ○ Also a/w short stature, web neck, cleft lip, shield chest, triphalangeal thumb (kind of reminiscent of Turner syndrome). ○ Tx: high dose corticosteroids (indefinitely) - 75% respond, others need frequent transfusions. Some can have BMT from matched sibling donors ● Severe aplastic anemia: chemicals (chloramphenicol), hepatitis virus, ionizing radiation, idiopathic ○ Need BMT from matched sibling. Might be able to use antithymocyte / lymphocyte globulin, corticosteroids, G-CSF for some. ● Fanconi Anemia: aut-rec disorder. Typical presentation ~ 8y/o with progressive
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pancytopenia ○ A/w pigmentary changes (cafe-au-lait), skeletal (microcephaly) / renal / developmental abnormalities, absent thumbs, horseshoe / absent kidney ○ Defect in DNA repair --> too many breaks / recombinations. Increased risk of leukemias ○ Macrocytic anemia. Can dx with increased chromosomal breakage with exposure to diepoxybutane (DEB) - damages DNA. ○ Tx: need RBC transfusion, abx to treat anemia / infections, corticosteroids. BMT is best if possible, but don’t really blast with chemo / radiation doses (can’t repair!) Characteristic smear findings ● Howell-Jolly bodies - seen in asplenic patients (small bits of nuclear renmants in nucleus) ● Target cells - seen in alpha-thal, HbC disease, liver disease (too much membrane; resistant to osmotic fragility ● Spherocytes - seen in hereditary spherocytosis; fragile, can use osmotic fragility test ○ Kids are anemic with hyperbilirubinemia & reticulocytosis, or can present in adult hood with symptoms. Hepatosplenomegaly & gall bladder dz most common sx after infancy. Babies with anemia ● Fetomaternal transfusion: consider in kids who are anemic shortly after birth with no Rh or ABO incompatibility with mom, as well as normal reticulocyte count. Can do Kleihauer-Betke stain for fetal hemoglobin-containing BCs in mom’s blood to diagnose ● Physiologic anemia of infancy: erythropoesis ceases after birth; Hb values decline, nadir at 6-8 weeks ● Iron deficiency: consider in term infant between 9-24 months (iron stores from circulating hemoglobin exhausted; shows up now if no good iron source provided). ● Sickle cell anemia: usually 4-6 months (when fetal Hb pretty much all replaced by adult / sickle Hb)
Thrombocytopenia ● ● ● ●
Can see with ITP (below) HIV, EBV infection can cause Drugs: PCNs, TMP-SMX, dig, quinines, cimetidine, benzos, heparin; also MMR vaccine. Neonatal isoimmune thrombocytopenic purpura: Mom’s IgGs can cross placenta, destroy fetal platelets --> treat with IvIg / corticosteroids after birth until maternal ab disappear. ● TTP: lack of ADAMTS 13 (vWF-cleaving protease) --> big, multimeric vWF forms --> increased platelet aggregation, thrombocytopenia. also hemolytic anemia, fever, renal involvement, neuro problems ● HUS: after Shigella or E. coli O157:H7 - microangiopathic hemolytic anemia, renal cortical injury, thrombocytopenia from platelet adhesion to injured vascular
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endothelium; may need temp dialysis Immune Thrombocytopenic Purpura: ● Often post-viral, can also be due to MMR vax, drugs, HIV. Think petichiae in wellappearing kid with recent febrile illness (HSP: sick looking!) ● plt < 20,000, bruising / petichiae w/o hepatosplenomeg / LN involvement. ● Labs: get a blood smear. On CBC, Hb, hct, wbc, dif are normal ● Most serious complication = intracranial hemorrhage (but rare); ● Treatment is controversial (no good improved otucomes), but may use IVIG to decrease platelet destruction, IV-anti-D therapy, 2-3 wks of systemic corticosteroids. splenectomy if serious complications (but then no spleen = more infections = need pneumovax, PCN ppx) Thrombocytopenia-absent-radius: Thrombocytopenia, bilateral absence of radius, abnormally shaped thumbs; can have TOF/ASD; 40% die from bleeding from low platelets in neonatal period.
Coagulation cascade defects Hemophilias: indistinguishable clinically. Severity depends on degree of factor deficiency. Mild (5-49% normal factor) = need significant trauma for bleeding; moderate (1-5%) require moderate trauma; severe (<1%) have spontaneous bleeding. hemarthroses are sterotypical. Give factor concentrates, but can develop inhibitors (IgG against transfused factors, makes treatment difficult). . Both x-linked rec. ● Hemophilia A: Factor VIII deficiency, can use DDAVP (releases factor VIII from endothelial cells) ● Hemophilia B: Factor IX deficiency, DDAVP has no efect Von Willebrand Disease: deficiency of vWF; both connects subendothelial collagen to activated platelets & binds to circulating factor VII, protecting it from clearance. Multiple types. ● Looks like thrombocytopenia (mucocutaneous bleeding, epistaxis, gingival bleeding, cutaneous bruising, menorrhagia) but also low factor VIII (PTT and bleeding time are both abnormally long) ● Ristocetin cofactor assay good for function, also PFA-100 (platelet fxn analyzer) ● Use DDAVP to simulate vWF release from endothelial cells; may also need cryoprecipitate (but can’t be virally attenuated, so give HBV vax first) Vitamin K deficiency: II, VII, IX, X and proteins C/S need vitamin K. ● Cystic fibrosis or abx-induced suppression of intestinal bacteria (which produce vitamin K) ● Hemorrhagic disease of the newborn can happen if no IM vitamin K given at birth Coagulopathies: Factor V Leiden, prothrombin 20210A, protein C/S deficiencies increase thrombosis risk
Jaundice & bilirubin Neonatal jaundice: for full-term infants, peaks at 5-6 mg/dL Tbili between 2nd and 4th days
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of life ● If in 1st 24h, work up: erythroblastosis fetalis, hemorrhage, sepsis, CMV, rubella, congenital toxo ● Can cause kernicterus if unconj bili too high ○ sepsis-like sx, apsphyxia, hypoglycemia, intercranial hemorrhage ○ Deposits in basal ganglia; increased in immature / sick infants, also with SMX (displace from alb), acidosis (reduces bilirubin binding), sepsis (blood-brain barrier more permeable), hypoalbuminemia (less albumin to bind) ● Phototherapy converts unconj bili into extractable form. ○ If no hemolysis, phototherapy for Tbili 16-18 @ 24-72h, Tbili >20 at >72h ○ Don’t do phototherapy for conjugated hyperbili (will bronze the skin & not help). ● Exchange transfusion rarely needed (if no response to conservative measures) ● Use nomograms / risk stratification curves to guide therapy. Breastfeeding Jaundice: manifests in first week of life (4-7d) ● caused by insufficient production or intake of breast milk --> not enough stimulation of bowel movements to remove bilirubin from body Breast Milk Jaundice: 2% breast fed full-term infants get high (up to 30 mg/dL) unconj bili levels ● Happens after 7th day of life; will decrease gradually if breast feeding continued ● can also pause breast milk for 12-24h (quick lowering of bili), then restart breast feeding Erythroblastosis fetalis: increased RBC destruction from transplacental maternal Ab against infant RBCs ● Presents within 1st 24h; direct Coomb’s positive Gilbert’s syndrome: negative coomb’s, nL/low Hb, nL/high retic, hyperbilirubinemia, unconjugated hyperbili Crigler-Najjar: deficiency of UDP glucuronyosyltransferase (severe deficiency = can’t conj = high unconj bili) Conjugated bili: if high, think obstruction of biliary tree (e.g. choledochal cyst). ● Could also be biliary atresia or other things that interfere with excretion Necrotizing enterocolitis: transluminal, mucosal necrosis in premature infants; sporadic usually ● Pneumatosis intestinalis on AXR (bacterial gas production in bowel wall) is pathognomonic ● 5-10% of VLBW babies. See feeding intolerance with bilious aspirates, abd distention, blood / heme+ stool, can end up in shock! Leukocytosis, neutropenia, thrombocytopenia, met acidosis too. ● Tx: discontinue feeds & place an NG tube to suction. Give systemic abx & send cx. Get q6h AXR to monitor for pneumotosis, free air. Give IVF for shock. ● Will need surgery if free air seen or necrosis suspected. If not, 14d bowel rest & broad abx.
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Immunology Immunodeficiencies Chronic granulomatous dz
Poor superoxide generation
Neutrophils, monocytes can’t kill staph aureus, candida, aspergillus (produce catalase) and GNRs recurrent infections with those organisms. Get NBT (nitroblue tetrazolium) test. Give daily TMP-SMX & gamma-interferon ppx
Leukocyte adhesion deficiency
Disorder of leukocyte chemotaxis, adherence
Recurrent sinopulmonary, oropharyngeal, cutaneous infections (Staph, Enterobacteriacea, Candida). Delayed wound healing. Failure of umbilical cord to separate. Neutrophilia (>50k).
SCID
Aut-rec or Xlinked Both humoral & cellular immunodec.
Decr. serum Ig, T-cells. Thymic dysgenesis Recurrent cutaneous, GI, pulm infections with opportunists (CMV, PCP, fungi). Death in first 12-24 mo unless BMT performed
DiGeorge
22q11 microdeletion Decreased Tcell production
Recurrent infections (T-cell: think HIV type infections) Also velocardiofacial manifestations: abnormal facies (wide-set eyes, prominent nose, small mandible), cleft palate, VSD / tetFal. Thymic / parathyroid dysgenesis = hypocalcemia, seizures. CATCH-22 (cardiac, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia on chromosome 22)
Wiskott Aldrich
poor Ab response to capsular polysaccharides, T-cell dysfunction (combined B&T)
X-linked rec with increases in serum IgA, IgE Classic triad: 1. Thrombocytopenia (15-30k with small plts) 2. Eczema 3. Recurrent infections (Pneumococcal otitis media, PNA from poor Ab response to capsular polysacch; fungal / viral by T-cell dysfunction)
XLA: X-linked agammaglobuline mia (Bruton’s)
Primary B-cell Presents after 3 months of age (mom’s Ab go away) deficiency (all 3 Recurrent / simultaneous bouts of otitis media, classes of Ab PNA, diarrhea, sinusitis at diferent sites but not decreased) fungal or viral infections
Common Variable immunodeficien cy
Humoral / Bcell
Hypogammaglobulinemia (low IgA, IgG); inherited disorder; less severe infections than XLA
Selective IgA deficiency
Humoral
Mildest, most common immunodeficiency. Normal levels of other antibody classes. viral response OK but
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susceptible to bacterial infections of resp, GI, urinary tracts Job syndrome
disorder of phagocytic chemotaxis
Elevated IgE, eczema-like rash, recurrent, severe staph infections
Ataxiatelangiectasia
variable humoral & CMI defects
immunodeficiency, cerebellar ataxia, oculocutaneous telangiectasia - most pts wheelchair bound by puberty, die prematurely
C5-C8 (terminal C’) is classic form
N. meningitidis infections! Also higher risk of rheumatologic disease
Complement deficiency
Testing: ● assess B-cell function by looking at Ab titers against tetanus, diptheria, pneumococcus after vax ● assess T-cell function by looking at DTH reaction ● lab testing too for titers, cell sorting, etc
Drug eruptions Type IV / V hypersensitivit y (not immediate)
e.g. amox allergy, also after adeno, EBV, other viruses Tx: Stop abx, can give antihistamines if required
Morbilliform
maculopapular, coalescing rash, especially truncal / centripetal
Urticarial
Immediate erythema, vasodilation, raised lesions with central clearing & serpiginous border, dermographia, transient / evanescent (gone in 30m), move around
Type I hypersensitivit y (mast cells, histamine release)
Fixed, targetoid, acral lesions; center can look necrotic. Palms / soles too, can have arthralgias. 7-10d after exposure (not immediate)
Type III hypersensitivit y (antibodies!) Can also be from HSV
Can deposit in joints, won’t walk “Serum sickness” is a more systemic form
Antibody independent
SJS if < 10% body surface, “overlap” if 10-30%, TEN if > 30% Drugs can trigger, also mycoplasma
Lymphocytic
8-10% mortality. Give steroids,
Erythema multiforme
SJS/TEN
DRESS
Big bullae, big, flat macular lesions, then bullae, involves mucous membranes Drug eruption with
e.g. immediate drug eruptions, can also be viral (& last for weeks!). Food, new exposures are less common Tx: stop abx, antihistamines
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eosinophilia & systemic sx Papular, follicular rash; eosinophila, leukopenia; can get hepatitis, pneumonitis, leaky capillaries --> edema
mediators
IVIG HHV-6, sulfonamides key
Hypersensitivity ● Type I: anaphylactic reactions. Often IgE mediated. Basophils, vasoactive substances like histamine, etc. ● Type II: Ab-mediated cellular cytotoxicity ● Type III: Immune complexes ● Type IV: DTH (T-cell mediated). Skin tests (PCN, carabapenems), etc. Anaphylaxis: ● If voice is changing, worry about the airway! Establish the ABCs before everything else! ● Then consider subQ epinephrine, diphenhydramine, etc. Hereditary angioedema: usually inherited C1 esterase inhibitor deficiency. Allergic rhinitis: usually doesn’t present til 5-6 years old (if younger, think infectious rhinitis / sinusitis)
Infectious Disease STIs Urethritis: ● Gonoccocal urethritis: a “drip” - dysuria, mucopurulent urethral discharge, oropharynx/skin too ○ 2-5 days incub. Dx with urine PCR or cx on Thayer-Martin agar; can also swab ● Treat with IM ceftriaxone x 1 or oral cefixime ● Chlamydia urethritis: a “drip” - dysuria, mucoid discharge; dx by PCR, 5-10 day incub. ● Other non-gonoccocal urethritis - ureaplasma, mycoplasma genitalium ● Treat with azithromycin x 1 or 1 week of doxy / eryrthro ● DDx:candidal balanitis (uncirc boy with whitish overgrowth; rx clotrimazole topical), inflamed condyloma ● Remember PID after GC/chlam - fever, cervical motion tenderness, lower abd pain, discharge, dysparenuria, irregular menstruation - consider in sexually active woman with adnexal or cervical tenderness, fever, discharge, irregular periods, elevated ESR/CRP ○ Treat with ceftriaxone x1(GC) + doxycycline x 14 or azithromycin (chlamydia), can also add clinda for anaerobes ○ Fitz-Hugh-Curtis syndrome: ascending pelvic inflammation of liver capsule,
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diaphragm. Patient with RLQ and RUQ pain (over gallbladder) - PID + liver problems HPV: 6,11 cause warts; 16,18 cause cervical cancer LGV: Painless genital papule --> resolves --> unilateral draining inguinal lymphadenopathy ● caused by C. trach serotypes; can be culured; also serologic testing Chancroid (H. ducreyi): small papules on genitalia, perineum --> pustular --> erode --> ulcerate; at the same time (not after like LGV) develop painful tender inguinal lymphadenopathy (you “do cry”) ● Get PCR or DFA. Hard to culture; can use chocolate agar but only 65% sensitive Syphilis: spirochete T. palladium, dx with RPR / VDRL (but high false-pos) confirmed with FTAABS ● Stage 1: primary syphilis. See chancre (well demarcated, firm, painless ulcer with indurated base). Heals spontaneously within 3-6 wks (may not seek medical attn) ● Stage 2: secondary syphilis (1/3 untreated pts). dissemination --> erythematous rash on palms / soles & condyloma lata (wart like lesions on genitals) ● Stage 3: tertiary syphilis: gummas (granulmoatous lesions) in skin, bone, heart, CNS ○ Tabes dorsalis & general paresis can occur, as can aortic aneurysm of asc. aorta. ● Treat with penicillin G (IM or IV) for any stage. HSV: usually type 2. 5-14d incubation, then genital burning, itching --> vesicular, pustular lesions that burst, painful shallow ulcers that heal without scarring. Can lay latent in ganglia, recur. ● See giant multinculeated cells on Tzanck testing; also PCR / DFA available. ● Oral acyclovir can diminish length of sx / shedding but don’t eradicate; can be used as ppx to reduce frequency of recurrences but doesn’t work as tx of recurrent episodes. ● Neonatal herpes: think vesicles on face, lymphocytic meningitis (red cells, lymphocytes, protein elevated; glucose low-normal), thrombocytopenia with CNS infection signs (fever, irritibility, etc). HSV encephalitis in neonates = difuse EEG changes, often serious neuro sequelae (majority), 30% mortality. ○ More likely with primary maternal HSV infection; most often HSV-2. ○ Get CSF HSV PCR & treat with IV acyclovir. ○ If mom has hx genital herpes, and if prodromal sx or herpetic lesions present at labor, do a C-section ○ If a neonate has rash c/w herpes, hospitalize! (even if in diaper area) Vaginal infections: ● Trichomoniasis (T. vaginalis) - protozoa - malodorous frothy gray dsicharge, vaginal dyscomfort. See trichomonads on wet prep. Tx with metronidazole BID x 7 d along with sex partners ● Bacterial vaginosis (Gardnerella vaginalis, others). Thin, white, foul-smelling discharge that emits fishy odor when mixed with KOH (whif test). Sexually active
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female, see clue cells on wet prep (squamous epithelial cells with smudged borders from adherent bacteria). Tx w/ metronidazole BID x 7d ● Vaginal candidiasis: not an STI; increased with abx use, pregnancy, diabetes, immunosuppresion, OCP use. See yeast and pseudohyphae on wet prep / KOH; use oral fluconazole or OTC antifungal creams.
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Congenital Infections: TORCH (Toxo, Other - VZV / syphilis, Rubella, Cytomegalovirus, HSV) Features
Treatment
Comments
CMV
developmental delay, IUGR (microcephaly), cataracts, seizures, hepatosplenomegaly, prolonged neonatal jaundice, purpura at birth. periventricular brain calcifications.
?Gancyclovir (not great data). Get newborn hearing screen (and repeated evaluations). Keep away from pregnant healthcare workers.
Most common if primary CMV infection in 1st trimester. (In reactivation, maternal IgG crosses placenta / protects baby)
Toxo
Same as CMV, pretty much.
pyrimethamine & sulfadiazine; can use corticosteroids for ocular, CNS dz as well.
brain calcifications scattered throughout ctx. Only congenital if primary maternal infection (cat feces, undercooked meat)
Rubella
Eyes: cataracts, retinopathy, microphthalmia, glaucoma. Ears: sensorineural hearing loss. Heart: PDA, peripheral pulmonary artery stenosis. Skin: blueberry muffin baby. Also IUGR, hepatomegaly, thrombocytopenia, interstitial pneumonitis, radiolucent bone dz
No specific antiviral therapy available. babies contagious until 1 year of age.
transplacental viral transmission. Rare (MMR vaccine). Don’t give MMR vaccine during pregnancy (very low risk but can get fetal dz).
HSV
Disseminated dz in multiple organs (liver / lungs). HSV-1: localized CNS disease w/ or w/o sz; HSV-2: often skin, eyes, mouth.
Acyclovir
Most HSV-2 (reflects genital herpes rates); infected through vaginal canal (most is actually perinatal).
VZV
Congenital varicella syndrome if < 20 wks) - limb hypoplasia, cutaneous scarring, eye / CNS abnormalities Neonatal chickenpox if > 20 wks: generalized pruritic vesicular rash +- bact superinfection, PNA, CNS involvement (cerebellar ataxia & encephalitis), thrombocytopenia
VZ IG: immediately after delivery if mom’s chicken pox starts w/in 5d of delivery, or immediately on dx if chicken pox started within 2d after delivery. Can give acyclovir x 10 d if acute varicella in 1st week of life.
Isolate if neonatal chickenpox (not congenital varicella syndrome).
Syphilis
Within 1 month of birth: hepatosplenomegaly, mucocutaneous lesions, jaundice, LAD, snuffles (bloody, mucopurulent discharge). Longer-term sequelae: saber shins, anemia, thrombocytopenia, Hutchinson teeth, deafness, MR.
Get an LP, CSF VDRL to diagnose, give parenteral penicillin G (IV or IM)
Mom with untreated infection --> transplacental infection. Most likely during 1st year of infection. 50% die shortly before / after birth
Also HIV: remember to get PCR, not relying on ab tests in kids who still have mom’s IgG!. GBS: ● Early: think PNA (sepsis too)
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● Later: think osteomyelitis, meningitis, septic arthritis (places where it needs to seed first!) CA-MRSA treatment: TMP-SMX or Clinda if > 5 cm; I&D and observe if < 5 cm Lyme disease treatment: ● Doxy for less severe manifestations: acute arthritis, erythema migrans, facial palsy, peripheral neuropathy ● Ceftriaxone for severe manifestations: meningitis, carditis Food ● ● ● ● ●
poisoning: S. aureus: immediate reaction to food Coxsackie: lesions in the oropharynx B. cereus: rice Adenovirus: if respiratory sx along with GI, conjunctivitis Rotavirus: should have been exposed by 2-3 years old. Can get really high fevers, febrile sz.
Rashes / etc from infections ● Measles: confluent, erythematous, maculopapular, “bucket of paint” rash (head --> toes) along with coryza, cough, conjunctivitis, Koplik spots on buccal mucosa. ○ Complications include PNA, myocarditis, encephalitis, SSPE ● Mumps: No rash, but swollen salivary / parotid glands. ○ Complications: orchitis, pancreatitis, more rarely meningitis, encephalitis ● Rubella: sore throat, cough, low-grade fever, then swollen suboccipital & posterior auricular lymph nodes and difuse salmon-colored rash; tender swelling of multiple large & small joints ○ Rash looks like measles but doesn’t coalesce ● Roseola: From HHV-6. High fever, which then resolves, and maculopapular rash appears. ○ Can cause febrile seizures in fever stage. ● Erythema infectiosum (“Fifth disease”, from parvo B19). “slapped cheeks” rash, then reticular rash spreading out to extremities. ○ Can cause transient aplastic crisis in kids with Hb problems (e.g. SCD). ● Varicella: dew drops on rose petals, not on palms/soles (can have some oral lesions), diferent stages. ○ 7-21d incubation, most contagious just before rash, isolate until all crusted ○ Vaccine efective. Can give acyclovir if chronic pulm dz, > 12, on salicylates / steroids ○ Vs smallpox, which has same-aged lesions ● Hand-foot-mouth: from coxsackie A1c. ○ Incubation 4-6d, 1wk rash, 1-2d prodrome (fever, anorexia, sore throat) ○ Herpangina - ulcerated vesicles on tongue, posterior pharynx ○ Difuse vesicles / pustules / papules on erythematous base on hands, soles and hard palate ● Rocky Mountain Spotted Fever: from Rickettsia rickettsii, gram-neg intracellular bacterium. Proliferates inside endothelial cells --> thrombosis, increased vascular
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●
●
●
●
●
permeability. Highest between April / September in south Atlantic states; tick-borne illness. ○ See fever, H/A, rash 7d after tick bite; nonspecific sx then rash on 2-5th day with blanching, erythemaouts, macular lesions that progress to petichiae, purpura starting on wrists/ankles and spread proximally to head / trunk over several hours; palms / soles involved too. ○ Treat with doxycycline in all ages Lyme: Borrellia burgdorferi; first see erythema migrans 3-30 days after bite. ○ Early disseminated (days/wks) = multiple erythema migrans, CN palsies, meningitis, carditis ○ Late (>6wks) - arthritis (usually knee) ○ Treat with doxycycline if > 8 years old; oral amox or cefuroxime for kids < 8 (can’t use doxy) ■ If vomiting, arthritis, cardiac dz, neuro involvement - use IV PCN G or ceftriaxone Molluscum: pearly lesions with central umbilication; can be in linear arrangements ○ Spontaneous resolution over months / yrs; can currette but can disfigure, contagious HSV: confluent pustules, blisters/cysts, hypopigmented on erythematous base, often on vermillion border of lip, can be erythematous / edematous ○ #1 presentation is gingivostomatitis (in anterior mouth); can autoinoculate ○ If ocular or near eye, get fluoroscene exam for HSV keratitis with optho ○ Recurs with stress - consider oral acyclovir when just tingling (prodromal phase) Impetigo: honey colored, friable / crusting lesions; can have bullae / blisters (bullous impetigo) ○ Most commonly S. aureus, also GABHS ○ Tx: keep clean, can use topical abx if local, cephalexin / augmentin / clinda if widespread Scarlet fever: sandpaper rash, strawberry tongue, desquamation of palms / soles, palatal petichiae (most sensitive findings), can have purulent pharyngitis or just be asymptomatic ○ From GABHS. Often have fever, H/A, abdominal pain (classic for strep, very severe, on api ddx) ○ Most contagious when in acute phase
Pharyngitis & related stuf: GABHS “strep” pharyngitis: sore throat, fever, H/A, malaise, nausea, abd pain. exudative tonsils, tender cervical lymphadenopathy, may have petichiae on soft palate ● Get rapid test (specific; rare false positives, but not great sensitivity - so confirm negative with cx) ● Treat with 10d of oral PCN or IM benzathine PCN G x 1. Can also use erythromycin, azithromycin, clindamycin if allergic. No resistance to PCN documented. GABHS associated stuf: ● Scarlet fever: erythematous sandpaper rash on neck, axillae, groin, spreads to extremities, starts along with pharyngitis & can desquamate 10-14d later
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● Acute rheumatic fever: occurs 1 wk after strep pharyngitis: carditis, migratory polyarthritis, transient (Sydenham) chorea, erythema marginatum, subcutaneous nodules; must fullfill Jones criteria: two of above, or one of above “major criteria” along with one of fever, arthralgia, elevated CRP/ESR, prolonged PR on EKG. Also need evidence of recent GAS infection (cx, rapid antigen, ASO titer) ○ Give PCN ppx to prevent recurrent ARF ● APSGN: glomerulonephritis after either pharyngitis or celllulitis with GABHS ○ Not afected by timely abx therapy ○ 10 days after infection: see hematuria, edema, oliguria, HTN with low C3 ○ Give PCN & diuretics; steroids don’t help, most recover just fine. Neck abscesses: ● Retropharyngeal abscess: usually in toddler < 4y: odynophagia, fever, posterior pharyngeal swelling, ○ Passively refuses to move neck 2/2 pain - more likely retropharyngeal ○ can spread to mediastinum (bad news) ● Peritonsillar abscess: any age, but often in adolescent / young adult; most common abscess in peds pts ○ Sore throat, odynophagia; trismus (refusal to open mouth) more common than retropharyngeal ● Get lateral cervical x-ray ● etiologies: strep pyogenes, staph spp, h. flu, peptostreptococcus, bacteroides, fusobacterium. ○ Often polymicrobial ○ Can also be viral (EBV, CMV, adeno, rhino) ● Treat with IV PCNs, 3rd gen cephalosporins, or carbapenems ○ add clinda or metronidazole if concern for anaerobes as well ● DDx also includes thryroglossal duct cyst (midline, moves with mouth opening) or 2nd brachial cleft cyst (lateral) Tooth abscess: can be strep mutans, fusobacterium. ● Give abx (amox or clinda) & get to dentist within next 48h EBV: remember that Monospot / heterophile Ab test doesn’t work well for young kids < 4 (get specific Ab test)
Otitis & related conditions Common AOM organisms: S. pneumo, nontypable H. flu, M. catarrhalis. ● S. aureus, E. coli, klebsiella, Pseudomonas if neonate or immunodeficient ● Viruses too; etiology often unknown. ● Treat: high dose amox --> augmentin in 3d if no improvement ● May need tympanocentisis, cx of middle ear fluid if treatment resistant. ● If a young child (e.g. 1 mo), with AOM, need to admit to hospital for sepsis workup (if feverish, irritable, diarrhea, etc) Otitis externa (“Swimmer’s ear”) - often Pseudomonas or other GNRs, S. aureus, occasionally candida / asperg.
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● Consider in kid who was at summer camp, exposed to water, etc. ● Treat: topical polymyxin / corticosteroids mixture Mastoiditis: Pinna pushed forward, fever, ear pain, swelling/redness behind ear after AOM ● Dx: get CT for confirmation. Tx: myringotomy, fluid cx, parenteral abx (surgical drainage if no improvement in 24-48h) Cholesteatoma: congenital or acquired (eg recurrent otitis); small sac with epithelium containing debris. ● Whitish mass protruding through tympanic membrane seen on otoscopy ● Can cause CNS complication / grow aggressively - refer to ENT, CT temporal bones.
Respiratory infections Lung ● ● ●
findings: Staccato cough: with croup or chlamydial PNA Eosinophilia: think chlamydial Biphasic stridor (insp & exp) and high fever - think bacterial tracheitis ○ Often viral URI sx first, then rapid increase in temperature, resp distress with secondary bact. inf. ○ Kids look toxic! intubate & use IV abx ○ DDx includes epiglottitis, etc.
Pertussis: “Whooping cough” in neonates, infants (nonspecific URI in adolescents & adults) ● Spread via aersolized droplets from coughing. Highly infective if unimmunized. Immunity from vax wanes. ● Course: ○ 7-10 d incubation, then catarral phase (low grade fever, cough, coryza), then ○ 2-6 wk paroxysmal phase (whooping on deep, sudden inspiration during intense coughing spasm), posttussive emesis, can get facial petechiae, scleral hemorrhage from forceful coughing. Young infants can’t whoop (can’t develop enough inspiratory force) ○ Last, convalescent phase for 2-8 wks ● Labs: see significant lymphocytosis, can get NP swab DFA / PCR to detect ● Treatment: hospitalize young infants. Can use erythromycin to shorten duration of illness(but only in catarral phase), if given later, will reduce infectivity. Give erythromycin ppx to household / daycare contacts irrespective of their immune status. ● neonatal immunity not dep. on mom’s immune status (transplacental Ab not 100% protective) ○ natural immunity is lifelong, but immunity from vax declines with age (use Tdap instead of Td) ○ If exposed, give erythromycin to prevent / lessen severity of disease (in preparoxysmal stage) Croup: kids 6-36 months with sudden onset of hoarse voice, seal-like barking cough, inspiratory stridor after progdrome of 12-14h fever, rhinorrhea; respiratory distress can
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develop also. ● Paraflu is #1, also RSV / flu ● Classically steeple sign on AP neck / chest radiograph (subglottic tapering) but < 50% sensitive ● Treat: cool mist, racemic epi nepbs, IV corticosteroids. Epiglottitis: classically H flu B, now can be strep pneumo. Kids look toxic, drooling, tripoding, thumb sign. ● Requires emergent intubation & IV amp-sulbactam or 3rd gen cephalosporin emprically. Bronchiolitis: viral LRTI infection, usually RSV (also paraflu, hMPV, flu, adeno) between Nov & April ● Classically young kids (2-5 months most hospitalized); also preemies, CLD, etc. w/ family members w/ URI ● RSV makes a syncitum of the ciliated epithelial cells; inflammation, plugging results. ● Have fever, tachypnea, variable resp distress, often with wheezing, ronchi, crakles, etc. ○ CXR: hyperinflated, peribronchial thickening (“cuffing”), increased interstit. markings ○ Lasts 5-10 days, then recover over 1-2 weeks. ● Treat: supportive, mostly outpatient. Corticosteroids, beta-agonists not helpful (but if not sure if first-time asthma, often may try in ED for a course). Use palivizumab (monoclonal RSV Ab) for passive ppx in kids at risk (<2 yr old ex preemies, kids with CLD needing oxygen), etc. PNA (LRTI) organisms First few days of life
● Enterobacteriaceae, GBS are big two ● Also S. aureus, S. pneumo, Listeria
First few months
● C. trachomatis (staccato cough, tachypnea, +/- conjunctivitis or maternal hx; eosinophilia, bilateral infiltrates with hyperinflation, may be afebrile) ● Viral PNA: HSV (most concerning; think acycolvir!), enterovirus, influenza, RSV
A few months - 5 yrs
● Viral PNA is big: adeno, rhino, RSV, flu, paraflu ● Bacterial: think S. pneumo, non-typable H. flu
> 5 yrs
● Mycoplasma is most common - think azithromycin or cephalosporins ● Could also be most of the above, except listeria & GBS
ICU / intubated
Consider pseudomonas & candida
Chronic lung dz
Think pseudomonas, aspergillus
Other clues:
● Typical rash - think varicella ● Retinitis - think CMV
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● ● ● ● ●
Stagnant water - think Legionella Refractory asthma or fungal ball - think Aspergillus Travel to southwest - Coccidiodes immitis Travel to or working on farm - Coxiella brunetti Spelunking, working on farm east of Rocky Mtns - Histoplasma
Treament basics: ● Outpatient: usually high dose amox or augmentin. ○ Can use azithromycin if “walking PNA” (mycoplasma, c. pneumo) suspected ○ Give azithromycin for C. trachomatis PNA in infants ● Hospitalized: use IV abx ○ < 28 days: amp & gent to cover GBS, etc. These kids get hospitalized (r/o sepsis) ○ 1 mo-3mo: ceftriaxone +/- macrolide ○ 4 mo-4yrs: ceftriaxone + clinda (s. pneumo, ?MRSA) ○ 5-15yrs: macrolide +/- ceftriaxone +/- clinda (atypicals, s. pneumo, ?mrsa) ○ Amp/sulbactam, clinda, ceftriaxone, azithromycin, vanc may be needed. S. aureus PNA can cause tension PTX (via toxin --> rupture of alveoli). ● Mostly associated with empyema though - which you can’t drain (rx with vanc!) ● Can also cause pleural efusion Pneumococcal PNA: often with sudden onset of fever, cough, chest pain ● Can fail outpatient therapy if amox (need high dose PCN, cefuroxime, amox/clav, or even vanc!)
Sepsis: ● Early-onset (1st 6 days): think birth canal (GBS, H. flu, E. coli, Listeria) ○ Treat with amp/gent ● Late-onset (7d-90d): think environment (coag-neg staph, S. aureus, E. coli, Klebsiella, Pseudomonas, Enterobacter, Candida, GBS, Serratia, Acinetobacter, anaerobes) ○ Treat with vanc / 2nd or 3rd gen cephalosporin (vanc/cef, etc) ● GBS is #1 cause sepsis in 1st 3 months; 80% are early onset (septicemia, PNA, meningitis) from vert trans ○ Often see resp signs first: apnea, grunting, tachypnea, cyanosis in 80%, hypotension in 20% ○ 50% develop seizures within 24h. ○ Associated with prolonged rupture of membranes, apnea, hypotension in 1st 24h life, APGAR < 5 @ 1 min, rapidly progressing pulmonary disease. Early GBS: increased risk with ROM > 18h, chorioamnitis, intrapartum T > 38C, previous GBS+ infant, young mother < 20, LBW or prematurity ○ Prevent with screening @ 35-37 wks gestation. Use intrapartum abx if needed. ● Listeria: gram + rod, rare infections in USA, from soft cheeses milk, undercooked chicken, hot dogs, etc.
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○ Acquried transplacentally or by aspiration/ingestion at birth ○ Brown-stained amniotic fluid, febrile mom, erythematous pustular rash on baby, pallor, poor feeding, tachypnea, cyanosis, MONOCYTOSIS on CBC, 30% mortality for early onset dz
Meningitis Organisms by age of patient: < 1 mo
Seeding from mom: GBS, E. coli, GNRs, HSV, Listeria. Also strep. pneumo
1-2 mo
E. coli, S. pneumo, enteroviruses, HiB, GBS
2mo-6y
S. pneumo, N. meningitidis, enteroviruses, borrellia burgdorferi, HiB
>6
S. pneumo, N. meningitidis, enteroviruses, borrellia burgdorferi
● Rarely could be due to TB, EBV, bartonella, cryptococcus too ● N. meningitidis: may see petechial / purpuric rash as well. CSF in meningitis WBC
PMNs
Protein
Glucose
Bacterial
> 1,000
> 75%
Very high
Very low
Viral
< 500
< 50% (more lymphs)
Normal / high
Normal
Lyme
< 100
< 30% (lots of monos)
Normal / high
Normal
Meningitis treatment (if bacterial) ● Most kids: Vanc + ceftriaxone; use steroids too ● Neonates: ampicillin (GBS, Listeria) & ceftriaxone (GNRs) ● Start with above empiric treatment for 10-14d; narrow with cx ○ Treat meningococcal dz for 5-7d, Lyme for 14-28, and neonates for 14-21 ● 10% of kids have persistent neuro deficit (hearing loss, dev delay, motor probs, sz, hydrocephalus) LP: contraindications include increased ICP in patient with closed fontanelle (can herniate), severe cardiorespiratory distress, skin infection at puncture site, severe thrombocytopenia or coagulation disorder (oozing IV, venipuncture sites).
Gastroenteritis (bacterial) note: enteritis = small bowel, colitis = large bowel ● Salmonella: aerobic GNR, motile, no lactose fermenting, more common in warmer months ○ gastroenteritis, meningitis, osteomyelitis, bacteremia = non-typhoidal presentation ■ Gastroenteritis: nausea, emesis, cramping abd pain, watery/blood diarrhea, sudden
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●
● ● ● ●
●
■ Typhoid fever from salmonella typhi too ○ Need to ingest many organisms = person-person unlikely ○ Can have some neuro sx with gastroenteritis ○ no abx for salmonella! can increase risk of HUS. But treat if immunocompromised / < 3mo (higher risk of disseminated disease) Shigella: small GNRs, nonlactose fermenting, motile ○ more common in warmer months / first 10 years of life (peak 2-3 yrs) ○ Only takes a few organisms (person-person trans via food, water) ○ Cramping abd pain, watery diarrhea progressing to small, bloody stools, anorexia ■ can have neuro findings too (h/a, confusion, hallucinations) but meningitis infrequent ■ peripheral white count often normal but with big time left shift (bands > polys) ○ Can give abx for Shigella (self-limited but decreases disease course, organism shedding) Camyplobacter E. coli (EHEC: can cause bloody diarrhea but often with no fever; EIEC = no blood) ○ Culture on MacConkey sorbitol to diagnose O157:H7 Yersinia a/w reactive arthritis, erythema nodosum. Can localize to RLQ (“pseudoappendicitis) Dx: Get stool cx, fecal leukocytes (just indicates inflammation) ○ HUS: in E. coli O157:H7, #1 cause acute renal failure in kids - usually younger than 4 yrs ■ Microthrombi, microvascular endothelial damage, microangiopathic hemolytic anemia & consumptive thrombocytopenia; also renal glomerular disease ■ 1-2 weeks after diarrhea: sudden onset of pallor, irritability, decreased UOP, can have petichiae & edema, even stroke sometimes. Tx: supportive, fluid / electrolytes. REGULAR DIET > “BRAT” or clears (counter-intuitive)
Gastroenteritis (Non-bacterial) Rotavirus gastroenteritis: major cause in infants / toddlers in Western world. Peaks Jan April ● Profuse diarrhea, vomiting, low-grade fever; can lead to electrolyte disturbances. Supportive care. Giardiasis: most common intestinal parasite in USA. Related to water quality ● Frequent, foul-smelling, watery stools with blood / mucus, abd pain, N/V, anorexia, flatulence too ● Often resolves 5-7 days. Give metronidazole. Common name
Parasite name(s)
Ascariasis
Ascaris lumbricoides
Source
Signs/sx
Dx
Tx
Fecal-oral
Most asx. Hemoptysis, pulm
Stool: see eggs,
Albendazole, mebendazole,
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infiltrates, abd pain, distension, obstruction
occasionally adult worms in stool or coughed up
pyrantel pamoate, piperazine to clear obstruction
Ovoid eggs in stool
Mebendazole, albendazole, pyrantel pamoate, also iron supplement
Hookworms
Ancyclosto ma duodenale, Necator americanis
Penetrate skin
Pruritis, rash @ entry site. Epigastric pain, diarrhea. Anemia from blood loss, resp sx
Pinworms
Enterobius vermicularis
Ingestion of egg
Nocturnal perianal itching
Tape test (O&P not useful)
Pyrantel pamoate, mebendazole, albendazole
Strongyloid es stercoralis
Larvae penetrate skin, to lungs, to intestines, can go back & forth
Epigastric pain, emesis, diarrhea, malabsorption, wt loss
Larvae in feces, or string test to sample duodenal fluid
Ivermectin, thiabendazole
Strongyloid s
Visceral / ocular larva migrans
Toxocara spp
Whipworms
Trichuris trichiuria
Trichinellosi s
Trichinella spiralis
Egg ingestion (soil contaminated with dog/cat feces) - kid eating dirt!
Fever, cough, abd pain; hepatomegaly, ronchi, wheezing, skin lesions, eosinophilia
Clinical pres, serologic testing, microscopy of tissue
Visceral: self limited. Ocular: diethylcarbamazi ne, albendazole, mebendazole (but all drugs can cause inflammatory rxn!)
Egg ingestion
Proctitis, bloody diarrhea, abd pain, rectal prolapse
Lemon-shaped eggs in stool
Mebendazole / albendazole
uncooked pork, other raw meat
First wk: abd pain, N/V, malaise. Then: muscle invasion: edema of eyelids, myalgia, wknss, fever
Eosinophilia on labs.
Organisms can become encysted, stay viable for years in muscle
Leptospirosis: #1 zoonotic infection worldwide ● exposure to dogs, cats, rats, livestock, other wild animals (urine) ● Most often subclinical, can also be symptomatic, starting with “septicemic phase” of fever, chills, mm pain, pharyngitis, H/A, conjunctival injection, photophobia, cervical adenopathy, then... ○ anicteric form - symptoms resolve, then “immune phase” (meningitic sx return, can lst for month)
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○ icteric form (“Weil syndrome”) - severe sx with liver, kidney dysfunction ● Treat with PCN, tetracycline (in children 10+)
UTIs ● Sx: fever > 39, vomiting/diarrhea, fussiness in kids ● At risk: ○ Voidingdysfunction (neurogenic, willful/behavioral, pinworm) ○ Constipation and behavioral problems ○ Recent antibiotic use ● Labs: ○ Leukocyte esterase: not specific, low PPV. ○ Nitrites: very specific (almost definitely a UTI) ● Sterile pyuria: fevers, interstitial nephritis, viral infections, appendicitis ○ Adenovirus can cause a hemorrhagic cystitis ● Admit if they’re not taking PO. IV cephalosporin is a first-line choice for meds in that case ● To work up or not? ○ Pretty much work up all infants admitted to hospital (RUS to look for hydronephrosis, presence of kidneys, size, consider VCUG to look for VUR, also scintigraphy - DMSA to look at renal tubules, or MAG-3 to look at excretion). ● Hydronephrosis ddx: UP junction obstruction, uretorocoele (UVJ obstruction), massive VUR ● Treatment: ○ Cystitis: TMP-SMX, ampicillin, amoxicillin, nitrofurantoin. usually treat if U/A suggestive; get cx, d/c abx if negative ○ Pyelonephritis: get oral/IV cephalosporin or IV amp+gent until cx available. Admit if toxic appearing, can’t do PO, or < 6 mo for 10-14d Brain abscess: consider especially in kids with right to left shunts (eg TetFal). ● fever, H/A, lethargic, nystagmus, ataxia, etc - get a CT/MRI Acute Otitis Media: Can be viral (RSV, paraflu, flu) or bacterial (S. pneumo, nontypable H. flu, M. cat) ● Bulging TM, erythematous, opaque, poor light reflex, decreased mobility, acute hx sx ● DDx: ○ OME: fluid (poor mobility of TM) but no evidence of inflammation (gray/clear TM, no sx) ○ Myringitis: inflammation of TM but normal mobility, usually with viral URI ○ Otitis externa: ear pain, worsened with manipulatino, canal hurts. ○ Mastoiditis: anteriorly displaced earlobe, high fever, tender. Give IV abx & may need surg ● Tx: ○ Abx if younger than 24 months, at risk for poor follow up, ill appearing, immunodeficient, or with recurrent / severe / perf’d AOM, give high dose amox. If no improvement in 48h, augmentin ○ If older than 24 mo and disease not too severe, decide abx vs pain control &
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watchful waiting ■ Can give Rx to fill in 48h if no improvement. ○ Tympanostomy tubes if OME longer than 3 months (risk of delay of language acquisition, hearing loss), or 4 AOM episodes in 6 mo (or 5 in 12 months) Vaccination: ● Mild URI, gastroenteritis, low-grade fever not contraindications ● Always contraindication: immediate hypersensitivity ● True egg hypersensitivity contraindication for influenza, yellow fever but not MMR ● Live vaccines usually not given to pregnant women, severely immunocompromised ○ HIV + OK if not immunocompromised Interesting contraindications (outside of the ordinary ones) ● DTaP: encephalopathy within 1 wk of previous administration ● HBV: anaphylaxis to baker’s yeast ● MMR: anaphylaxis to neomycin, gelatin; also pregnancy, immunodeficiency ● IPV: anaphylaxis to streptomycin, polymyxin B, neomycin ● Varicella: anaphylaxis to neomycin, gelatin
Neonatology APGAR: Score
0
1
2
Appearance
Blue, pale
Acrocyanosis
Completely pink
Pulse
Absent
<100 bpm
>100 bpm
Grimace (reflex irritability to nose suction)
No response
Grimace
Cough / sneeze
Activity
Limp
Some flexion of extremities
Active motion
Respiratory efort
Absent, irregular
Slow, crying
Good
Start bag-valve-mask if no respirations or pulse < 100! ● Chest compressions then if HR stays under 60 with 100% O2 ● Drug therapy (epinephrine) after 30s of compressions if pulse still < 60 Transient tachypnea of the newborn: otherwise healthy full-term baby with tachypnea at ~1h of life ● From incomplete evaculation of fetal lung fluid in full term infants ● More common with C-section, disappears in 24-48h of life, can give supplemental oxygen PRN ● Perihilar streaking & fluid in fissures on CXR.
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Meconium aspiration syndrome: aspiration during delivery --> respiratory distress ● hyperinflation + patchy infiltrate on CXR ● Can see air trapping which can lead to PTX, especially if you use PEEP ● endotracheal intubation + direct suction ‘em out before thorax delivered (before 1st breath) ○ May need some iNO for pulmonary HTN RDS: preemies, surfactant deficiency, give ‘em surfactant. Lungs mature starting at 32 wks. ● ground glass reticulonodular pattern with air bronchograms, decreased aeration on CXR ● Lecithin:sphingomyelin ratio > 2 is predictive of good lung development ○ Maternal steroid administration can speed up production of surfactant; also PROM, stress, maternal narcotic addiction, preeclampsia, hyperthyroidism, theophyllin ○ Maternal diabetes (fetal hyperglycemia, hyperinsulinemia) can slow down surfactant production ● Give surfactant, then decrease FiO2 to reduce O2 toxicity (<60% FiO2 is better). May need NC / CPAP /vent Apnea of prematurity: apnea > 20 sec (or with cyanosis / sx or brady < 100 bpm) ● Usually mixed central / obstructive.\ picture. ● DDx vs periodic breathing (normal in neonates, infants) - pauses of 5-10s with rapid breathing aftewards ● A/w bradycardia (<80bpm in newborn). Needs BVM if hypotonic, pallor. Treat by maintaining skin temp, supplemental O2, tactile stimulation, cafeine to sitimulate respiratory center. Monitor for ~7d without A/B episode; can send home with apnea monitor for period of time as well. CDH: herniation of abdominal contents, usually L side, leads to pulmonary hypoplasia. ● Mostly left posterolateral diaphragm defect (Bochdalek hernia) ● See immediate respiratory distress, scaphoid abdomen, cyanosis, heart sounds displaced to right side; diminished breath sounds on same side ● Don’t bag & mask (bowel gas accumulates in chest, get worse) - INTUBATE! ● Don’t try to put a needle in to aspirate fluid - you could puncture the bowel! ● DDx includes congenital cystic adenomatoid malformation: embryonic disruption of broncihole development, big cystic mass ID’d on prenatal ultrasound, causes pulmonary hypoplasia but stomach & intestines in the right place Omphalocoele: viscera herniate @ umbilicus into sac covered by peritoneum, amniotic membrane. ● A/w beckwith wiedemann. Polyhydramnios in utero. ● Management: Do C-section to prevent rupture of sac. If small, repair. If large, cover with prosthetic material, reduce, & repair later (not a surgical emergency if sac intact). Gastroschisis: no sac, herniation of intestine through abdominal wall lateral to umbilicus. ● Polyhydramnios in utero. Management: surgical emergency (put Silastic silo over exposed bowel; reduce over days)
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IVH (intraventricular hemorrhage) - especially in VLBW babies, first 3 days of life, many asx. ● Dx with anterior fontanelle U/S (all VLBW should be screened with one) ● Manage by maintaining cerebral perfusion but controlling intracerebral pressure. Follow with U/S. HIE (hypoxic ischemic encephalopathy) - big cause of neonatal morbidity / mortality. Often 2/2 intrapartum event ● #1 cause of neonatal seizures; often present with severe perinatal deprssion / asphyxia needing resusc. ● #1 predictor of long-term morbidity = neuro exam @ 1 week of life (good if able to take full oral feeds, normal exam - chances for full recovery very good). Muscular torticollis: neck twisted to one side in neonate s/p difficult delivery (big/breech), palp. SCM mass ● Get radiographs to rule out cervical spine injury before doing any stretching! ● Treat initially with passive SCM streching. Can lead to facial asymmetry if not taken care of. ● DDx: ○ Klippel-Feil syndrome: congenital fusion of portions of cervical vertebrae, restricted neck movement, short neck, low hairline. A/w Sprengel defomity (congenital elevation of scapula), structural urinary tract abnormalities ○ Sandifer syndrome. GERD, hiatal hernia, and head posturing (can look seizure like). Get esophageal pH probe to look for reflux! ○ Dystonic reaction to meds (metoclopramide or antipsychotics) - tx with diphenhydramine ○ Also retropharyngeal abscess, tumors, dystonia, Wilson dz, syringomyelia, other stuf Apt test: helps distinguish ingested maternal blood from baby’s blood in neonate with bloody stool ● (fetal hemoglobin is alkali resistant) Subgaleal hematoma: Bleed into subaponeurotic space; crosses suture lines, expands rapidly ● can lose big blood volume / get hemodynamically compromised - take to NICU! Cephalohematoma: Bleed btwn skull and periosteum (rupture of bridging vessels); does not cross suture lines ● Especially after prolonged delivery; usually doesn’t cause compromise, resolves / resorbs ● can cause indirect hyperbilirubinemia Caput succedaneum: Serosanguinous, between scalp & periosteum, crosses suture lines ● associated with pressure of head against cervix (vaginal deliveries) ● Soft, spongy scalp; observe only! Goes away on its own.
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Propranolol is bad for baby during delivery if mom takes it - baby can’t respond to bradycardia; a/w brady episodes, also apnea / failure to develop tachycardia during an asphyxiation in delivery Labs at birth: ● SGA infants can have decreased uteroplacental blood flow, placental infarction - results in fetal nutritional deprivation, intermittent fetal hypoxemia --> decrease in glycogen storage & polycythemia ○ Glc: 30-40 is normal in full-term infant in 1st postnatal day ○ Ca: decline during first 2-3 postnatal days; only abnormally low below 7.5-8 mg/dL ○ HyperMg: common when mom got MgSO4; asx or floppiness ○ Hct > 65% = polycythemia; get increased blood viscosity ■ Hypervisocity syndrome: tremulousness, jitters --> sz (sludging, thrombi); can also lead to priapism, necrotizing enterocolitis, tachypnea, etc. Don’t do phlebotomy (will incr. viscosity by decr. arterial pressure); do partial exchange transfusion with saline / lac ringers instead (but only if Hct > 70 or symptomatic) First week of life: ● Lose 1.5-2% body weight per day for first 5 days of life (excess fluid excreted) ● Hct falls (adaptation to environment of higher oxygen) ● Bili rises, peaks around 3-5 days of life ● Several meconium stools in days 1-2, then soft yellow stools Hypocalcemia in newborns: see tetany, seizures, etc. ● Early (first 72 hours) - usually idiopathic hypocalcemia. Can also be 2/2 maternal illness (diabetes, toxemia, hyperparathyroidism) or neonatal respiratory distress, sepsis, LBW, hypoMg ● Late (after 72 hours) - transient / permanent hypoparathyroidism with high phosphate intake Cleft lip / palate: 1:1000 kids; 4% of sibs of afected kids. ● Can lead to feeding problems, recurent otitis, hearing loss, speech deficits (even with good closure) ● Usually close lip @ 2-3 mo, then palate between 6mo-5yrs
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Twin-twin transfusions: 15% of monochorionic twins; can cause intrauterine death. ● Suspect if hematocrits difer by > 15 mg/dL. ● Donor twin = lower Hct, can have oligohydramnios, anemia, hypovolemia, shock. ● Recipient twin: hydramnios, plethora, larger than donor ○ Hyperviscosity syndrome if Hct > 65% Low birth weight: LBW < 2,500g ; VLBW < 1,500; lots of LBW births in USA = why we have high infant mortality ● From IUGR, premature birth, medical causes Small for gestational age: BW < 10th %ile for gestational age. From IUGR or just statistically small ● Early-onset IUGR: from insult < 28wks gestation. Symmetric: HC, height, wt all proportional. Mom with HTN, renal dz; infants with chromosomal abnormalities, congenital malformations. ● Late-onset IUGR: from insult >28wks. Asymmetric: normal HC with reduced length, weight; weight for height is low, infant looks long / emaciated. Placental fxn fails to keep up with fetal requirements. Large for gestational age: >90th%ile or > 2SD. Infants of diabetic moms, neonates with TGA, erythroblastosis fetalis, Beckwith-wiedemann syndromes. Can also be constitutional (big parents). ● Monitor blood sugar (prone to hypoglycemia); get Hct (prone to polycythemia) ● Macrosmotic = > 4,000 (very LGA) - risk of shoulder dystocia, birth trauma, etc. Postmaturity: > 42wks. Dry, cracked, peeling skin, malnourished appearance common at birth ● Can see meconium aspiration / resp depression, PPHN, hypoglycemia, hypoCa, polycythemia Polyhydramnios if fetus can’t swallow (abdominal wall defects, diabetes, anencephaly, myelomeningocoele, esophageal / duodenal atresia, diaphragmatic hernia, cleft palate) Oligohydramnios if fetus can’t excrete fluid. ● Potter sequence if bilateral renal agenesis (clubbed feet, compressed facies, low-set ears, scaphoid abdomen, diminished chest wall size). Higher risk of resp failure than renal insufficiency. Neonatal hypoglycemia: may have transient blood glucose in 30s and be OK; definition is <40. ● But persistent BG < 60 - look for pathology (inborn errors of metabolism, IDM, etc)
Fetal exposures Fetal alcohol syndrome: ● small for gestational age, microcephaly, small palpebral fissures, short nose, smooth philtrum, thin upper lip, ptosis, micropthalmia, cleft lip/palate, CNS abnormalities (average IQ = 67)
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Dilantin: midface hypoplasia, low nasal bridge, hypertelorism = big gap between eyes, growth retardation, accentuated Cupid’s bow of upper lip, cardiovascular anomalies, etc. Infants of Diabetic Mothers (IDM) ● Large babies (macrosmia), increased fetal O2 requirements --> fetal hyperinsulinemia ● May have hypoglycemia at birth - immediate feeding if 25-40, IV glucose if <25 ● Polycythemia --> thrombosis (partial exchange transfn if hct > 65), hypoCa, hyperBili too. ○ Consider renal vein thrombosis in IDM with abdominal mass (hydronephrosis) as neonate! ● Rarely, can see caudal regression syndrome (hypoplasia of sacrum, lower extremities). ● Also a/w congenital heart dz, NTD
Neurology Head Trauma Subdural hematoma: more common in kids < 1; rupture of bridging veins; blood between dura & arachnoid ● More morbidity; less mortality than epidural (brain parenchyma involved Epidural hematoma: more common in older kids; skull fx + middle meningeal aa lac, blood btwn dura & skull ● More mortality; less morbidity than subdural (under pressure). Classically with lucid interval Basilar skull fx: periorbital (raccoon eyes) or postauricular (Battle’s sign) bruising, ● Can also see hemotympanum, CSF rhinorrhea / otorrhea. If GCS is less than 8, then you have to intubate! (diferent GCS for kids) Neural tube defects: no folic acid, valproic acid / carbamazepine exposure contribute. elevated AFP in mom ● Spina bifida: NTD with incomplete fusion of vertebral arches ● Myelomeningocoele: contains neural & meningeal tissues. Leads to hydrocephalus (get VP shunt) ● Meningocoele: just meninges ● Spina bifida occulta: bony defect in vertebrae with no herniation of spinal contents. ● Chiari II malformation (lower brainstem, cerebellum pushed back) - often need cervical decompression to prevent cyanotic episodes, apnea, stridor, dysphagia, etc. ● Get a C-section for kids with NTD for better management. Hydrocephalus: bulging fontanelle; poor feeding, irritable / lethargic, downward deviation of eyes (“setting sun” sign), spasticity, etc. can indicate increased ICP. ● Cushing triad (hypertension, bradycardia, slow / irreg respirations) is a late finding. ● Usually get VP shunt (or 3rd ventriculostomy if acqueductal obstruction) to open floor of 3rd vent. ○ Shunt infections: most often S. epidermidis.
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Pseudotumor cerebri: benign but important cause of H/A, often overweight females ● ?from impaired CSF resorption. See papilledema but normal CT ● LP: increased opening pressure; serial LPs resolve headache ● Can also use acetazolamide / furosemide if protracted cases.
CNS tumors: Infratentorial: Tumor
Age @ onset
Manifestations
5 yr surv
Comments
Cerebellar Astrocytoma
5-8
Ataxia, nystagmus, head tilt, intention tremor
90%
20% of all primary CNS tumors
Medulloblasto ma
3-5
Obstructive hydrocephalus; ataxia; CSF mets
50%
20% of all primary CNS tumors. Acute onset of sx
Ependymoma
2-6
Obstructive hydrocephalus; rarely seeds CSF
50%
25-50% are supratentorial
5-8
Progressive CN dysfxn, gait disturbance, pyramidal tract / cerebellar signs (brisk reflexes, spasticity, babinski, etc)
<10 %
Worst prognosis of all childhood CNS tumors
Brainstem ( e.g. pontine) glioma
Supratentorial Tumor
Age @ onse t
Manifestations
5 yr surv
Comments
Cerebral astrocytoma
5-10
Sz, H/A, motor weakness, personality changes
1050%
Poor survival if highgrade gliomas
Craniopharyngio ma
7-12
Bitemporal hemianopsia, endocrine abnormalities
7090%
See calcification above sella turcica. Diabetes insipidus common after surg
Optic glioma
<2
Poor visual acuity, exopthalmos, 50nystagmus, optic atrophy, 90% strabismus
NF-1 in 70% of pts
-
Parinaud syndrome (paralysis of upward gaze), lid retraction (Collier sign), precoc. puberty. May seed CSF
Germ cell line May secrete B-hCG or AFP
Germ cell tumor
75%
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Epilepsy Syndromes Epilepsy Syndrome
Onset
Types
LennoxGastaut
Childhood (1-8y)
Benign rolandic epilepsy
Other findings
EEG
Treatment
Tons of Mental diferent kinds retardation, bad prognosis
Slow spike & wave (1-2Hz)
VPA, lamotrigine, felbamate
Childhood (510y)
Simple partial (mouth, face), GTC
Nocturnal preponderanc e, usually remits
Centrotempor al spikes
Carbamazepin e or no treatment
Absence epilepsy
Childhood (510y) & Juvenile (7-16y)
Absence, GTC
Hypervent = trigger
3 Hz spike & wave
Ethosuxamide , VPA
Juvenile myoclonic epilepsy
Adolescence, young adulthood
Myoclonic, absence, GTC
Early morning preponderanc e
4-6 Hz polyspike & wave
VPA, lamotrigine
Simple febrile seizures: between 6 mo and 6 yrs, elevated temperature, generalized, short (<15m), self-limited seizure without focal findings; short postictal state, often with prior hx or FHx ● Only need to get EEG if complex (long, focal signs, etc) Classic side efects of AEDs ● Carbamazepine (partial, GTC): leukopenia, thrombocytopenia, aplastic anemia ● Ethosuxamide (absence): rash, rarely aplastic anemia ● Phenobarb 9GTC or partial): nystagmus, sedation or activation, ataxia ● Phenytoin (GTC, partial): nystagmus, rash, drug-induced lupus, gingival hyperplasia, polyneuropathy ● VPA (GTC, absence, partial): hepatotoxicity, N/V, neural tube defects ● Gabapentin (partial): dizziness, somnolence, ataxia, fatigue ● Lamotrigine (GTC, partial, absence, lennox-gaustault): rash including SJS, also N/V, rash, double vision ● Topiramate (GTC, partial, absence, L-G): confusion, headache, ataxia Status epilepticus: seizure > 30m or 2+ sz without full recovery of consciousness (in reality, treat > 5m sz) 1. ABCs, get IV access 2. Benzos (lorazepam 0.1 mg/kg or diazepam) 3. + phenytoin 20 mg/kg 4. + phenobarb 20 mg / kg 5. + anesthesia (midazolam, pentobarbital, propofol) to suppress brain electrical activity
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Acute infantile hemiplegia: acute onset of a hemisyndrome with eyes looking away from paralyzed side ● Thromboembolic occlusion of middle cerebral artery or major branches (basically stroke / TIA) Breath holding spells: can be pallid or cyanotic; sudden pain / upset --> cry --> color change --> child holding breath in exhalation; can lose conciousness briefly and can have stifening / transient clonic movements.
Cerebral palsy ● Etiology: problably most from antenatal insults (less common perinatal, pregnancy, delivery) ● ⅓ have sz, 60% have intellectual disability. Classically see scissoring of legs ● Failure to reach milestones: stepping response > 3 mo, Moro > 6 mo, asymmetrical tonic neck > 6 mo ● Can calculate motor quotient (motor age / actual age) ● Diplegia = bilateral legs; quadraplegia = all legs, hemiplegia = one side, UE > LE. Muscular Dystrophy: ● Duchenne most common, X-linked. ● Frequent falling, difficulty climbing stairs, hop waddle, proximal mm weakness (Gower sign), pseudohypertrophy, cardiomyopathy. Respiratory failure is #1 cause of death. ● Becker: like DMD but less severe (think older kid, e.g. 12, with new weakness, also FHx) ● Myotonic muscular dystrophy is #2: autosomal dominant. ○ Inverted V-shaped upper lip, thin cheeks, wasting of temporalis muscles, narrow head, high, arched palate. Distal muscle weakness leads to trouble walking also speech difficulties, GI problems, endicrine problems, immune deficiencies, cataracts, intellectual impairment, cardiac problems ● SERUM CK (elevated), DNA analysis of peripheral blood to diagnose
Genetic Diseases Disease Huntington’s Disease WerdnigHofman Friedrich’s ataxia
Inheritan ce
Genes
Presentation
Pathology
Aut-dom
Chromosome 4 (CAG repeats in huntingtin)
Chorea, depression / behavioral changes, dementia
Atrophy of caudate (↓ GABAergic neurons)
Floppy babies, tongue fasiculations, death ≈ 7mo
Degeneration of anterior horns (LMNs only)
Gait / falls / diabetes nystagmus /
Dorsal columns / lateral CST /
Aut-rec Aut-rec
Frataxin gene, GAA repeats,
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dysarthria / DM / cardiomyopathy / kyphoscoliosis
Chr 9
spinocerebellar / dorsal root ganglia (hyporeflexic)
Episodic Ataxia
Brief episodes of ataxia / nausea / vertigo
Spinocerebella r ataxia (SCA)
Various, mostly CAG repeats
Progressive gait / dysarthria in early adult life ± other neuro abnormalities, mild / moderate cognitive decline late
Lysosomal storage (arylsulfatase A deficiency)
progresive ataxia, Demyelination (↑ weakness, peripheral sulfatides --> ↓ neuropathy; macular myelin sheath) lesions (gray)
Defective production of myelin sheath proteins
Adolescence; progressive, symmetric distal muscular atrophy (legs / feet à hands), hammer toes / pes cavus
Auto-dom
Metachromic Aut-rec leukodystrophy
Charcot-MarieTooth (Hereditary motor & sensory neuropathy)
CMT-2 is axonal motor, others demyelinating
Neurocutaneous disorders (phakomatoses) Sturge-Weber
Spontaneous, chr 3
Port-wine stains (nevus flammeus), ipsilateral leptomeningial angiomas. Glaucoma, sz, hemiparesis, mental retardation. Can use pulsed dye laser therapy to fade port-wine stain.
Tuberous sclerosis
Aut-dom with variable penetrance
Hamartomas (CNS, skin, organs), cardiac rhabdomyomas, renal angiomyolipomas, giant cell astrocytomas, MR in 65%, sz, ash-leaf spots, sebaceous adenoma, shagreen patch,
NF type 1 (von Recklinghausen’s dz)
Aut-dom, chr 17
Café-au-lait spots, lisch nodules (pigmented iris hamartomas), neurofibromas (skin), gliomas / ependymomas
NF type 2
Chr 22
Meningiomas, gliomas, bilateral acoustic neuromas
Von-Hippel-
Aut-dom, chr 3
Cavernous hemangiomas (skin, mucosa, organs),
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RCC, hemangioblastoma (retina, brain stem, cerebellum)
Lindau dz
DDx of Sturge-Weber includes PHACE syndrome - posterior fossa malformations, hemangiomas, arterial anomalies, coarc of aorta, eye abnormalities
Post-infectious weakness Disease
Etiology
Features
ADEM
Post-infective (chickenpox, measles) or post-vaccine (rabies, smallpox)
Perivenular inflammation, demyelination postinfection. Abrupt onset, monophasic. Fever, H/A, drowsiness, sz, coma; can have hemi/paraplegia, CN palsies as well
GBS: AIDP
Post-campylobacter or herpesvirus (CMV / EBV)
Antiganglioside Ab (GM1, others); ascending motor paralysis ± sensory, hours/days, ± autonomic dysfunction, often pain LP: albuminocytologic dissociation IVIG / PLEX equally efective, steroids don’t help
CIDP
?
Pain, responds to steroids (90%), can relapse, slowly evolving with areflexia / impaired vibration.
GBS variant – post infectious
Anti GQ1b Ab, ataxia, areflexia, ophthalmoplegia; proprioceptive loss (not cerebellar dysfxn), usually self limited / good prog
MillerFischer
Hearing loss: ●
Usually dx by severe language delay (e.g. no babbling by 9 months = get audiologic evaluation) ● Normal (0-5 db threshold), mild (25-30: lose some speech sounds), moderate (30-50: most speech indiscernible), severe, profound (>70db) Sensorineural: congenital or acquired ● Congenital ○ #1: Waardenburg syndrome (aut-dom, white forelock / partial albinism, deafness, lateral displacement of inner canthi, heterochromic irises, medial eyebrow flare, broad nasal bridge) ○ #2: Branchio-oto-renal syndrome: hearing impairment, preauricular pits, branchial fistulas, renal impairment, external ear abnormalities ○ Alport syndrome: nephritis, progressive renal failure, SN hearing loss, ocular abnormalities ○ Down syndrome, neurofibromatosis, Jervell/Lange-Neilsen (also congenital
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prolonged QT), Hunter/Hurler syndromes as well. ● Acquired: ○ Infections: CMV #1, also toxo, rubella, syphilis, GBS/strep pneumo infection ○ Drugs: aminoglycosides, loop diuretics, chemo (cisplatin), lead, arsinec, quinine ○ External: trauma, fx, ECMO, radiation, loud noise exposure Conductive: otitis, anatomic lesions, etc. Newborn screening: usually use OAE (easier but more false positives) followed by ABR to confirm abnl results ● Mandatory before 1 mo of age (usually done in nursery) ● Higher rates in patients with APGAR 4 or less @ 1 min, 6 or less at 5 minutes; also f hx childhood SNHL, CMV/rubella/syph/herp/toxo, craniofacial abnormalities, birth weight < 1500, hyperbilirubinemia requiring transfusion, mechanical vent > 2 days. ● Early intervention is key: better outcomes. can fit hearing aid if > 2mo, cochlear implant when 2yrs+
Oncology Hematologic malignancies Leukemias in general: ● Sx: lethargy, malaise, anorexia days / wks before dx; bone pain / arthralgias (leukemia in marrow cavity), pallor (normocrhomic, normocytic anemia with low retic count), ecchymoses / petechiae (thrombocytopenia), hepatosplenomegaly / cervical LAD at Dx. ● Get CBC with dif & blood smear, flow cytometry to type. Bone marrow bx is gold standard. Acute leukemias: 97% of all childhood leukemias. rapidly fatal if untreated, but curable. ● Acute lymphoblastic leukemia (ALL): ○ More common (75%), increased risk with ataxia-telangiectasia, XLA, SCID, L3 ALL a/w EBV. ○ Hyperleukocytosis (WBC > 200,000) = vascular stasis (esp if > 300k) - bad! Mental status changes, H/A, stroke, hypoxemia, etc. Can use hyperhydration, leukophoresis to tx ○ Treatment of ALL: induction of remission,consolidation to kill more cells (incl intrathecal methotrexate), interim maintenence (less intense), delayed intesification (another intense round), maintenence (ongoing, to maintain remission) ■ High risk of tumor lysis syndrome (hyperUricemia, hyperPhos, hyperK) - give fluids, alkalanize urine, give allopurinol for high uric acid, aid elimination of K/phos ○ Worse prognosis if >10y, <1yr, WBC > 50k @ dx, philadelphia chromosome, hyperploidy
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● Acute myeloid leukemia (AML): ○ Less common (25%) than ALL, peak in adolescence, white=AA ○ May develop chloroma (soft tissue tumor) in spinal cord, skin ○ Can also have hyperleukocytosis as above. Keep Hb < 10g/dL, plt > 20,000 ○ Treatment is more intensive than ALL ○ Increased risk with congenital bone marrow failure states like ShwachmanDiamond (exocrine pancreatic insufficiency and neutropenia) and DiamondBlackfan (congenital RBC aplasia), exposure to benezene, alkylating agents ○ Acute promyelocytic leukemia = M3 subtype; higher survival rate, retinoid gene translocation (retinoic acid part of tx), higher in latinos, better prognosis overall. Chronic leukemias: only 3%, more indolent but can develop to blast crisis. CML in adolescents, but rare Increased leukemia risk: Trisomy 21, fanconi anemia, Bloom syndrome, twin with leukemia, chemo / ionizing radiation for 1st malignancy.
Lymphomas Non-Hodgkin: ● T-cell: a/w mediastinal mass, can have SVC syndrome as a result ○ lymphoblastic (pre-B), anaplastic types ● B-cell: often involves bone, isolated LNs, skin ○ lymphoblastic (pre-B) ○ Burkitt lymphoma: rapid growth, can have tumor lysis syndrome even before chemo! ■ Sporadic: abd tumora/w nausea, emesis, intussusception ■ Epidemic: jaw, orbit, maxilla, more definitely EBV associated ■ C-myc translocation Hodgkin: childhood, young adult, older adult form; biomodal epidemiology (15-30, then >50) ● Painless, rubbery cervical lymphadenopathy in 80%, ⅔ also have mediastinal LAD ● B symptoms: unexplained fever, drenching night sweats, unintentional wt loss (> 10%/6mo) ● Diagnosis: ○ Get a chest radiograph to look for mediastinal mass; will guide how bx done (anesthesia? need to protect airway if impinged upon?) ○ Biopsy next: look for Reed-sternberg cells. Fewer is better for prognosis (lymphocyte predominance has best prognosis). ● Staging: depends on where involvement is (single LN, more, both sides of diaphragm, disseminated, B-sx?) ● Treatment: can be chemo combos +/- XRT depending on stage, other factors. Chemo drugs and their side efects ● Alkylating agents / cross linkers ○ Cyclophosphamide - hemorrhagic cystitis, SIADH, cardiac toxicity, infertility ○ Iphosphamide - hemorrhagic cystitis, also renal / ototoxicity, infertility
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○ Cisplatinum (platinates, doesn’t alkylate, but cross-links) - ototoxicity, renal toxicity, late nausea ● Antimetabolites ○ Methotrexate (dihydrofolate reductase inhibitor) - mucositis, hepatic/renal tox, neurotoxic ○ Mercaptopurine, thioguanine (block purine synthesis) - mucositis, hepatic toxicity ○ Cytarabine (inhibits DNApol): mucositis, flu-like sx, ocular toxicity ● Plant products ○ Vincristine (microtubule inhibitor) - SIADH, neurotoxicity, constipation ○ Etoposide (DNA strand breaks) - mucositis, infusion rxn, secondary leukemias ○ Asparaginase (asparagine depletion) - coagulopathy, pancreatitis, anaphylaxis Retinoblastoma: malignant tumor of embryonic neural retina. Chr 13q14 mutation (RB1) ● 60% sporadic, rest hereditary (high but incomplete penetrance). Bilat (25%) = hereditary. ○ If parent has unilateral rb & known mutation or bilat rb, screen at birth (ophtho) & reg intervals until 4-5 y/o
● ⅔ in < 2 year olds, 95% before age 5. ● Dx: leukocoria (absent red reflex). Get ophtho eval; may need MRI, etc. ○ DDx of leukocoria includes congenital cataract, medulloepithelioma, Toxocara endopthalmitis, persistent hyperplastic primary vitreous, Coats disease = abnl development of blood vessels behind retina)
● Tx: varies: enucleation, chemo, local therapy (laser/cryo), radiation. depends on extent of disease. ● If heriditary form, higher risk for soft tissue sarcomas Neuroblastoma: postganglionic sympathetic nervous system malignancy; childhood, embryonal ● Location: abdomen (70% - most often adrenal medulla; also retroperitoneal sympathetic ganglia), thoracic cavity (posterior mediastinal ganglia), head/neck (cervical sympathetic ganglia) ● 8% all childhood cancers < 15yrs; mean age @ dx 17-22 months ● Etiology unknown, may be related to other neural crest cell disorders (Hirschprung, NF-1, pheo) ● Presentation: Abd: smooth, hard, nontender abdominal mass; displace kidney forward/down. Can get abd pain, HTN if compressing renal vasculature. Chest: respiratory distress. Neck: Horner’s syndrome, palpable mass. MULTIQUADRANT abdominal mass ● Mets: lymphatic, hematogenous. Wt, loss, fever, bone marrow failure (pancytopenia), cortical bone pain -> limp (Hutchinson syndrome), liver infiltrate -> hepatomeg (pepper syndrome), periorbital infiltration (proptossis, ecchymoses = “racoon eyes”), LN enlargement, skin infiltration (palpable nontender subcutaneous blue nodules). ● Paraneoplastic: can see watery diarrhea (VIP secreting), opsoclonus-myoclonus too ● Dx: Send urinary VMA, homovanillic acid (catechols), get bx ● Prognosis: stage with INSS (international neuroblastoma staging system - I=localized & excised ; I = localized, not excised, III = tumor beyond midline (incl. contralateral LN
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involvement), IV = distant mets, IVS = age < 1 + mets, with primary tumor that would otherwise be I or II. I, II, IVS have better prog than III/IV. Best prog for infants < 1. N-myc has worse prognosis. Tx with chemo, surgery, radiation, biotherapy, etc. as needed. Wilms tumor: #1 renal tumor in kids, neoplastic embryonal renal cells from metanephros proliferate ● 11p13 (WT1) and 11p15 (WT2) are most common genes. ● most unilateral; 7% bilateral; most < 5 years old @ dx ● Associations: sporadic aniridia, hemihypertrophy, cryptorchidism, hypospadius, other GU abnormalities. Beckwith-Wiedemann (hemihypertrophy, macroglossia, omcephalocele, GU abnormalities), Denys Drash (congenital nephropathy, Wilms, intersex d/o), WAGR (Wilms, aniridia, GU abnormalities, mental Retardation), and Perlman syndrome (unusual facies, islet cell hypertrophy, macrosmia, hamartomas) are related. ● Features: asx abd mass, usually found by parents. Abd pain / fever = may have hemorrhaged into tumor. Microscopic or gross hematuria in 33%, HTN in 25% (renin secretion by tumor or compression of renal artery). Can get varicocoele (if spermatic vein cord compression) too. vWD also 8%. ● Management: Get abd ultrasound, then CT, then bx (usually at time of removal). Treat with surgical removal of kidney; assess contralat idney for spread. Chemo and/or radiation depending on staging ● Good prognosis if small tumor, patient > 2 y/o, good histology, no LN mets / capsular invasion ● Anaplastic, clear cell, rhabdoid histology may necessitate diferent treatment Soft tissue sarcomas: ● Rhabdomyosarcomas = 50%. Associated with NF, Li-Fraumeni syndromes. #1 STS in kids < 10 yrs) ○ t(2;13), t(1;13) translocations. ○ Can be embryonal or alveolar subtype. 35% in head/neck, 22$ in GU sites, 20% in extremities. ● Non-rhabdomyosarcomas: heterogenous group. fibrosarcoma is #1 STS in kids > 10 yrs. ○ Include nerve sheath tumors (malignant, congenital with NF-1) but also fibrous histiocytomas, leiomyosarcomas (after radiation for prior tumor)
Bone Tumors Tumor
Patient / presentation
Ewing Sarcom a
Mostly adolescents, M>F (1.5x), very rare in AA. Pain, localized swelling at site of tumor + fever, wt loss, fatigue if mets
Location
Flat and long bones (femur, pelvus > fibula, humerus, tibia). Often midshaft
Dx
Comments
Rad: lytic with calcified periosteal elevation (“onion skin”). Get bx
chr 11-22 translocation. Tx: rad/surgery + chemo (almost all pts have microscopic mets). if no mets, 5yr > 66%
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Osteosarcom a
Mostly adolescents, M>F (2x), most during peak growth velocity. Pain, localized swelling but rarely systemic manifestations. Often attributed to trauma (gait distrubance, fx common)
Medullary cavity / periosteum, at metaphysis of bones with big growth velocity (distal femur, prox tibia, prox humerus)
Rad: lytic with periosteal reaction (inflammation, radial sunburst as tumor breaks through cortex). Get CT chest for pulmonary mets, bone scan too.
Clinical mets in 20%; msotly lungs; almost all others have microscopic mets. Tx: Surgical removal, resistant to radiation = neoadjuvant + adjuvant chemo. Long-term relapsefree survival >70%
Ophthalmology Strabismus: misalignment of eyes. Transient strabismus OK until 4 mo age. ● 4% kids have strabismus, more common in CP, Down’s, hydrocephalus, brain tumors ● Esotropia = inwards, exo=outward, also upward/downward. Dx with light reflex, coveruncover tests ● Amblyopia, reduced steropsis (depth perception) can result. ● Tx: realign (medical, surgical intervention), earlier is better for chances of normal acuity/alignment Amblyopia: reduced vision in otherwise normal eye (2-5% kids, most susceptible birth 7yrs. Ealier = worse) ● Strabismic (33%): suppress retinal images from misaligned eye, if child younger than 4-6 yrs ● Anisometric (33%): unequal refractive erros in eye; blurred retinal image ● Rest are mixed mechanism. All can lead to permanent vision loss. ● Tx: correct refractive errors with glasses, fix cataracts, etc. Restore alignment if strabismic. Then occlude better-seeing eye to force visual development in afected eye. Tx > 8 y/o is unlikely to be successful Leukocoria: DDx: ● retinoblastoma (life threatening; see onc section) ● cataracts (most common cause, 1:250 newborns, congenital or acquired - infection, etc. Tx with surgical removal; remove before 2-3 mo age to prevent irreversible amblyopia) ● retinopathy of prematurity (retinal vascular disease, O2 exposure, VLBW preemies. Tx: many regress spontaneously; lasar ablation of retina or cryotherapy can reduce progression to retinal detachment) ● Also congenital glaucoma, oxular toxocariasis (parasitic, often acquired) Nasolacrimal duct obstruction: causes chronic overflow tearing in absence of conjunctivitis in 25% neonates. ● Failure of distal membranous end of nasolacrimal duct to open. ● If mucopurulent discharge, tenderness of lower lib, think dacrocystitis (superimposed infection); use warm compress, nasolacrimal massage, occasionally 1st gen
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cephalosporins ● Resolves spontanously by 1 y/o in 96%. Refer if sx persist. At 12-15mo, probe nasolacrimal duct. Infantile glaucoma: classic triad of tearing, photophobia, blepharospasm. May see one eye enlarged! ● Can be isolated or a/w congenital rubella, NF-1, sterge weber, marfan, others Opthalmia neonatorum: conjunctivitis in 1st month of life. ● Ocular discharge in neonate = evaluate (tears absent in first few weeks of life) ● Presentation: eyelid edemia, conjunctival hyperemia, ocular discharge. ● DDx of most common causes below; also HSV, S. aureus, H. flu, pseudomonas (after 1st week of life). Tx: refer if gonococcus, HSV, P. aeurg, or if signs worsem / sx perist > 3 days. Also Tx parents / partners if STD! ● Prophylaxis: Erythromycin drops (C. trach, N. gonorrhea). Onse t
Chemical
N. gonnor.
C. trach
Features
Complications
Dx
Treatment
24h
bilat, serous discharge, conjunctival hyperemia
Self-limited
Exclude other causes
None
2-4d
bilat, prurulent discharge, eyelid edema, chemosis
sepsis, meningitis, arthritis, corneal ulceration, blindness
conjunctival cx (chocolate or ThayerMartin)
Topical erythromyci n, IV cefotaxime, treat parents
410d
unilat or bilat mucopurulent discharge, conjunictival hyperemia
conjunictival Chlamydial cx
Oral + topical erythromyci n*, treat parents
corneal scarring, pneumonia
* remember that systemic erythromycin in neonatal period has been linked to hypertrophic pyloric stenosis Infectious Conjunctivitis (Pink Eye) ● DDx: All have difuse injection, normal vision ○ Viral: pain mild, clear mild/copious discharge, can crust, usually no itching, normal vision. adenovirus, ECHOvirus, coxsackievirus are common etiologies ○ Bacterial: mild/moderate pain, mild/copoius mucopurulent discharge with definite crusting, no itching. H. flu, S. pneumo, N. gonorrhoeae can be culprits ○ Allergic: no pain, clear discharge with mild/moderate discharge, no crusting but with itching. Seasonal pollen or other allergens can be etiology ● Often treated with abx drops / ointment x 5-7d (polymiyxin-bacitracin, TMP-polymyxin B, gentamicin, ofloxacin); can culture of refractory. Self-limited diseases, but abx limit infectivity, decrease duration by 2 days. Some exceptions:
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○ If N. gonorrhoae - need parenteral ceftriaxone. ○ If H. flu and ipsilateral otitis media, treat for otitis. ○ Do NOT give abx drops with steroids if HSV-1 is cause (more severe disease, visual impairment). ● Ddx includes corneal abrasions (red, painful, tearing; sensitive to light, use slit lamp + fluorescine to see, treat with eye patching +- topical abx, should heal within 24h) Styes: Chalazion vs Hordeolum ● Chalazion: sterile lipogranuloma of meibomian gland in tarsal plate. Firm but nontender. Excision sometimes required; can be chronic / recurrent. Lid hygeine can help. ● Hordeolum: infection of meibomain gland (internal) or sebacoues gland around eyelash follicle (external). S. aureus usually. Local, tender swelling --> rupture to outside. Tx with warm compresses; I&D or systemic antibiotics if cellulitis develops. little value for ophthalmic abx Periorbital (preseptal) cellulitis: ● Preseptal: no limitation of eye movements. Usually from skin breaks (S. aureus, group A strep), hematogenous (S. pneumo, H. flu), inect bites, or sinus infection (S. pneumo, H. flu, M. cat). ● Dx: warm, tender, indurated skin without eye pain around eye. +/- fever (if hematogenous) & signs of etiologies above. Get LP if suspicious for meningitis. ● Tx: IV abx as soon as possible. If after break in skin, PCNase-resistent PCN or 1st gen cephalosporin; may need Vanc if concerned for MRSA. Otherwise use cefuroxime or 3rd gen cephalosporin if concerned for meningitis. Switch to PO to complete 10 day course when symptoms go away. Orbital cellulitis: this is an EMERGENCY ● Infection behind orbital septum. Severe pain with eye movement, proptosis, vision changes, decr. EOM ● Get CT scan for dx, look for spread of infection. May have orbital abscesses (drain) ● Organisms: S. aureus, S. pyogenes, S. pneumo, H. flu, M. cat, anaerobes in upper resp tract ● Start empiric IV abx (cefuroxime, +clinda if concern for anaerobes, or amp-sulbactam) x 3 wk course total (can switch to PO when symptoms go away). ● Bad sequelae: brain abscesses, meningitis, cavernous sinus thrombosis (rare but serious).
Orthopedics Developmental dysplasia of the hip: dislocation - acetabulum doesn’t develop as cup - head of femur out farther ● More common in breech deliveries, family hx, females, 1stborn children. A/w clubfoot, congenital torticollus, metatarsus adductus, infantile scoliosis ● Dx: Barlow, Ortolani. Older infants: Galeazzi sign (knees bent, hips flex, look for shortened limb). Radiographs don’t help until 4-6 mo (ossification); U/S is better from birth - 4 mo ● Tx: ortho referral. Most stabilize by 2 wks. Pavlik harness (abducted, flexed hip) or body
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casting if older Foot deformities: ● Flexible = more benign (if you can mold it with hand, minimal intervention) ● Metatarsus adductus (isolated in-toing of forefoot) - benign, from intrauterine positioning, ankle joint range is unrestricted (restricted in clubfoot). If inflexible, may need serial bracing / casting @ 6-12m ● Talipes equinovarus (clubfoot) - rare, debilitating. medial rotation of tibia, fixed plantar flexion at ankle, inversion of heel, metatarsus adductus. can’t dosiflex; foot more deformed; limp + ulceration + calluses. Need early intervention before walking! (serial casting, surgical repair if failed) Causes of limp ● Trauma is #1 at any age. Otherwise, by age (yrs) ○ 1-3: infection, inflammation, paralytic syndromes ○ 3-10: L-C-P, toxic synovitis, JIA ○ Pubertal: SCFE ● Legg-Calve-Perthes: avascular necrosis of femoral head, etiology unknown. Mostly males / younger kids (4-8 y/o) with painless, mildly painful limp developing insidiously, often referred to knee / thigh. Limited ROM on abduction, flexion, internal rotation. ○ Radiographs: initially normal, then epiphyseal radiolucency. ○ Treat by contain femoral head in acetabulum, usually ischemic bone is resorbed then reossification over 2-5 yrs. Often just observed if younger; brace/cast/surg if older. Incr. arthritis later in life ● SCFE: prox femoral growth prate separates; femur head slips of & rotates into inferior/posterior position ○ Think overweight pubertal kids (esp males). 25% become bilateral. No relation to trauma. ○ Presentation: limp, pain (hip/groin or referred to knee). Limb shortening, limited internal rotation and flexion on exam. Get radiographs in frog-leg lateral position to see displacement. Tx: pin fixation acutely; chronic may require osteotomy Osgood-Schlatter: pain, swelling, tenderness over tibial tuberosity. ● From repetitive stress to distal insertion of patellar tendon on proximal tibia ● Think adolescent growth spurt (10-15y) ● Pain worse with running, jumping, kneeling, squatting but better with rest. ● Tx with activity modification, stretching before, rest/ice after activity; casting for up to 6 wks if severe; low long-term morbidity Blount disease: bowlegs (genu varum) that progress & worsen, can be unilateral ● abnormality in medial aspect of proximal tibial epiphysis ● Physiologic genu varum should straighten by 2 years old
Scoliosis: lateral curvature; idiopathic mostly; hereditary factors. ● Screening is key. Severe = bracing, surgery (F>M by 8x). During growth spurt, most
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progressive. ● Mostly just screen if minor. Brace if 25-30 degrees, surgery if 45-50, cardiopulmcompromise if 90-100 Kyphosis: posterior rounding of spine. Often from poor posture; PT vs observation as tx. ● Scheurman disease: inflexible kyphosis a/w wedge-shaped vertebral bodies. Brace / surgery Achodnroplasia: disorder of cartilage calcification, remodeling. Aut-dom condition. heterozygotes: typical phenotype, normal intelligence, sexual fxn, life expectancy. Homozygotes: bad outcome (pulm complications, small foramen magnum = brainstem compression).
Fractures Basic features: ligaments / tendons > bones for strength in kids, so more breaks than sprains / tears. ● Hallmark is severe point tenderness over bone ● 5-10% fx are invisible on initial radiographs (2-3 wks later) Types of fx ● Epiphyseal fractures classified by Salter-Harris classification. S-H III/IV have highest risk growth disrup ● Bow fracture (e.g. greenstick) if bowing / bending without fracture after trauma ● Stress fractures: can be invisible on initial films; repetitive forces (e.g. athletes) ● Pathologic fx: if 2/2 OI, malignancy, lnog-term steroids, infection, endocrine disorders. Osteogenesis imperfecta: fragile, brittle bones. ● Family of kinds, both aut-dom & aut-rec, all with abnormal type I collagen, with variable severity ● Blue sclerae and multiple fx, which can lead to short stature. ● Management: standard fx care, pneumatic bracing, avoiding even minor trauma. Some pts: pamidronate (inhibits osteoclast resorption) Subluxation of radial head: “nursemaid’s elbow”. ● Common, with strong jerking of child’s hand when held by parent. Child comes in holding arm close to body, elbow flexed, forearm pronated, pain on elbow motion. Radiographs normal. ● Tx: extend elbow, supinate hand; hear click as annular ligament pops into place; kid better in minutes Typical injuries in young athletes Swimming
Shoulder injuries (rotator cuf tendinitis and/or supraspinatus muscle injury)
Football
Knee injuries (ACL, PCL, MCL) common. Turf toe (injury to 1st MTP joint) if artificial turf Head, neck injuries serious but rare
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Baseketball
Lower extremity problems - Osgood-Schlatter, ligament sprains, ankle injuries
Running
Muscle strains in hamstrings, adductors, soleus, gastroc. Runner’s knee: anterior knee pain because of patellofemoral stress
Ballet
Delayed menarche, eating disorders are stereotypical Lower extremity problems too - bunions, knee/ankle problems from overuse
Wrestling
Upper extremity problems: shoulder subluxation Lower extremity problems: usually prepatellar bursitis (traumatic impact on floor) Skin conditions: contact dermatitis, superficial fungal infections, HSV (“herpes gladiatorum”), impetigo, MRSA!
Skiing
Skier’s thumb: abduction & hyperextension of thumb --> sprain ulnar collateral ligament during fall is #1
Hockey
Contusions, lacerations, pretty much any kind of injury. Loss of teeth too.
Osteomyelitis: ● ⅔ in femur and tibia in kids; often in metaphysis (blood stasis, few phagocytes). 50% neonates with osteo have septic joint as well. ● Incidence bimodal: neonatal M=F, older kids (9-11) M>F ● S. aureus is #1; also GBS/E. coli in neonates, Salmonella in SCD, pseudomonas if nail thru sneakers ● Hx: fever, refusal to move limb; can have localized bone pain if older. ● PE: Soft-tissue swelling, limited ROM, point-tenderness; can see sinus tracts sometimes draining pus ● Labs: WBC can be normal; 50-60% blood cx positive. Should aspirate bone before abx started to get organism, susceptibility, etc. Rads normal, then pereostial elevation / radiolucent necrosis @ 2-3wks. MRI is better for imaging. CRP elevated in 95% (nl within 7d of tx). ESR elevated in 90% (nl after 3-4wks). ● Tx: IV or high-dose oral abx for 4-6 wks. ○ Broad-specrum anti-staph, like cefazolin, nafcillin, oxacillin). ○ Neonates: GBS, GNR coverage ○ SCD: third-gen cephalosporin for salmonella ○ Narrow after organism recovered. Surgery if abscess / sequestrum found Septic arthritis: more common than osteo. From bacteremia. Think infants, young kids mostly ● Painful joint, fever, irritability, refusal to bear weight. Limited ROM, tender joint, +/swelling on exam ● DDx: osteomyelitis, inflammatory arthritis, reactive arthritis ● Labs: tap joint. WBC> 25,000 in joint fluid, often get bacteria too (but GC is harder to isolate)
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Neonates
GBS, E. coli, S. pneumo, S. aureus
Cefotaxime
Infants > 6wks Young kids
hip
S. aureus #1 also Kingella kingae, S. pneumo
Ceftriaxone
Older kids
knee
S. aureus #1, also strep, gramnegs N. gonorrhea if sexually active
1st/2nd gen cephalosporin or symisynthetic PCN
Transient (“toxic”) synovitis of the hip: frequent cause of hip pain, stifness in children. ● ?infectious, often after viral illness. ● ROM limited - present in unilateral frogleg position, have hip efusion and pain on internal / external rotation but child is afebrile and bears weight, ESR < 40, low CRP, WBC < 12k (vs septic arthritis) Reactive arthritis: think chlamydia, also after enteric bacteria (yersinia, salmonella, campylobacter) ● happens weeks afterwards (kid who has arthritis who had diarrhea wks ago!) Also on ddx of arthritis: leukemia (wt loss, appetite decreasing, nosebleeds from thrombocytopenia, bone pain)
Psych ADHD - needs to be present in more than one setting and start before 7 yrs old, 6mo+ of sx ● Inattentive, hyperactive, and combined types. DDx vs abscence sz. ● Send questionnaires to parents, teachers. ● Use simulants (methylphenidate, dextroamphetamine); atomoxetine (NE reuptake inhibitor, less tics associated), also buproprion, imipramine / nortriptyline / pemoline. 70% respond ● Comorbid oppositional defient disorder (most common) / conduct disorder is common; also comorbid learning disabilities. send for full workup Tics & Tourette Syndrome ● Tics - nonrhythmic, spasmotic, involuntary, sterotyped; any muscle group ○ Transient tic disorder: common, often in boys; often FHx - eye blinking, facial movements, throat clearing; lasts for weeks to a year then often resolves; can be chronic though ● Tourette syndrome: life-long, motor + vocal tics for at least 1 yr without 3 months free of tics, needs to be age < 18, causes disturbance ○ obsessive-compulsive behavior, high incidence of ADHD too ○ Treat with clonidine (alpha-2 receptor agonist which decreases NE by acting on locus ceruleus) ○ If that doesn’t work, try atypical antipsychotics
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Pulmonology Things to remember: Can’t get PFTs until 5-6 yrs. Intrathoracic = expiratory, extrathoracic = inspiratory Upper airway obstruction ● Neonates - noisy inspiration, increased WOB, retractions. Subglottic = high pitched, monophonic. Supraglottic = variable, fluttering stridor, varies with position of head / neck. Pronounced difficulty during feeding in infants. Tx based on etiology. If severe, may need tracheostomy until definitive tx ○ Choanal atresia - dangerous (obligate nose breathers), better with crying, dx by trying to pass 16 french catheter into nose. ○ Mandibular hypoplasia - leads to glossoptosis (tongue displaced backwards). Also kids with big tongues (trisomy 21, macroglossia in B-W syndrome) ○ Vocal cord paralysis: uni / bilat, can be congenital but more frequently acquired. Hoarse voice too ○ Laryngeal webs: uncommon, congenital lesions; cause respiratory distress in delivery room, disappears with intubation ○ Laryngomalacia: big floppy arytenoids or epiglottis. #1 cause congenital stridor; resolves over 1-3 yrs of life with growth ○ Subglottic masses (hemangiomas, cysts). Subglottic stenosis (acquired, from prior intubation) ○ Compression of upper airway by anomalous vessel ● Older kids: acquired lesions become more likely. ○ Think enlarged tonsils, adenoids (esp during viral URI), foreign bodies, infections (acute laryngotracheitis, peritonsillar / retropharyngeal abscesses, etc. ○ Obstructive sleep apnea: daytime somnelence, poor growth, behavioral problems ■ Pickwickian syndrome: if leads to chronic hypoventilation; often in obese kids ■ Get polysomnography; normalize airway anatomy (remove tonsils / adenoids if needed) ■ CPAP an option if other interventions fail; if untreated, severe OSA can lead to CHF / death! Asthma: ● Wheezing kids: consider also inflammation / failure to clear secretions (bronciholitis, GER with aspiration, CF, TEF, primary cystic dyskenesia), intraluminal mass (foreign body, tumor, granulation tissue), dynamic airway collapse (tracheobronchomalacia), extrinsic compression (vascular ring, mediastinal LN/mass) ● Rule of 2s: ○ symptoms 2x/wk (or less) ○ nighttime awakenings 2x/month (or less) ○ short-acting beta-agonist 2x/wk (or less) ○ fewer than 2 exacerbations needing corticosteroids in last 6 months ○ with no interference with normal activity is “intermittent” asthma, better control. (exception - no nighttime awakenings allowed in kids, 0-1 exacerbations per year). ○ Additionally, FEV1 between exacerbations should be > 80% predicted; peak flow >
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85% ● Stepwise therapy: ○ If well controlled, check up q1-6mo. If well controlled > 3 mo, consider step down ○ If not well controlled, step up & re-evaluate in 2-6 wks ○ If very poorly controlled, consider short-dose oral corticosteroids, step up 1-2 steps, re-eval 2 wks ○ All steps get SABA PRN. Then add low dose ICS --> medium dose ICS / add LABA, LTRA, or theophylline (either order) --> high dose ICS + LABA --> add oral corticosteroids ● Higher risk of death: noncompliance, poor recogn. of sx, delay in Tx, hx intubation, AA, steroid dependence ● The pathway: acute exacerbation ○ 3x nebs: albuterol + atrovent (combi), then albuterol, then albuterol + atrovent ○ 2 mg/kg steroids x 5 days Cystic Fibrosis: disordered exocrine gland function is hallmark, leading to abnormal viscid secretions ● From CFTR Cl channel mutation on chr 7 (surface of epithelial cells - gets sequestered inside cell). ● Aut-rec; most frequent in Caucasians, 75% from deltaF508 mutation ● Also can’t bind Pseudomonus in lungs; decreased NO production (exaggerated inflammation) ● Screen with pancreatic immunoreactive trypsinogen (IRT) test (blood spot screening) elevated in CF ○ False negatives possible, so do more testing if newborn screen negative & high susp (mec ileus, etc). ● Findings: nasal polyps (test these kids for CF!). ○ Infections: S. aureus, H. flu early in childhood --> P. aeurg in late childhood / early adolescence, Burkholderia cepacia is really ominous (accel. pulm. deterioration, early death) ○ GI: pancreatic insufficiency, bowel obstruction, rectal prolapse, diabetes, hepatic cirrhosis. Decreased fat absorption (pancreatic loss) - large, bulky, foul-swelling stools. Often see failure to thrive as initial manifestation. Meconium ileus too (no stool passage, vomiting / abd distention, distended bowel loops, bubbly pattern in intestine with narrow colon on abd x-ray, surgical emergency!) ○ Pulm: wheezing, air trapping, obstructive PFTs, chronic sinus disease ○ GU: obstructive azoospermia in males, reduced fertility in females. ● Dx: sweat chloride test, genetic/prenatal testing ● Tx: airway clearance (chest PT, bronchodilators to relax smooth mm, abx to clear infections, decrease inflammation). Also recombi human deoxyribonuclease (breaks down thick DNA complexes). Alternate months of inhaled tobramyicin inhaled for Pseudomonas-infected people. lung transplant if life expectancy < 1-2yrs, 50% survival post transplant @ 5 yrs. ● Sequelae / warning signs ○ Hemoptysis = alarming if severe broncihectasis (can erode into arteries; frank blood loss).
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○ Spontaneous PTX alarming too. Need to place chest tube; pleurodesis (obliterate pleural space) to prevent recurrence. ○ Can get chronic pulmonary HTN, cor pulmonale if advanced disease. Primary ciliary dyskinesia: aut-rec group of diseases; cilia don’t work = bad mucociliary clearance ● Recurrent bronchial obstruction, sinusitis, chronic otitis media, recurrent resp infections ● Sx similar to CF, asthma ● Dx: abnormal ciliary beat under light microscopy or microsopic exam of ciliated cells in nose, bronchi ● Tx: simlar to pulmonary CF components, although not the same P. aeurg propensitiy. Restrictive lung diseases: much less common in kids ● Pectus excavatum (depression of sternum) or carinatum (outward), if severe ● Neuromuscular disease (GBS, muscular dystrophy, SMA) ● Big lesions occupying intrathoracic space (e.g. diaphragmatic hernia, etc) ● ILD: rare. Sarcoid, desquamative interstitial pneumonitis, etc. Idiopathic pulmonary hemosiderosis (IPH): post difuse alveolar hemorrhage; idiopathic or with bleeding disorder; see hemosidin-laden macrophages (siderophages) in bronch washings. An example of an ILD ● Consider in kids with fever, resp distress, CXR findings that look like PNA - but findings clear rapidly, kids have lots of recurrent “PNA” and signs like clubbing that point to a chronic process. ● Also see microcytic hypochromic anemia, low serum Fe, occult blood in stool (swallowed pulmonary secretions). Get bronchoalveolar lavage. ● Subset have hypersensitivity to cow’s milk (“Heiner syndrome”) & improve of of milk Apnea of infancy: any cessation of breathing that lasts for 20 seconds or more, or involves color changes (cyanosis or pallor), hypotonia, decreased responsiveness, bradycardia. treat underlying disorder (infection, neurologic, respiratory, cardiac, GERD, abuse). ● ALTE if parents believe could have been fatal ● management: treat underlying disorder. Can put on home monitor which will sound alarm for apnea, bradycardia, but don’t reduce SIDS likelihood (since apnea does not raise SIDS risk).
Renal Glomerular disease Nephritic syndromes: think red cell casts, edema, mild HTN, hematuria, etc. Can use Cachannel blockers for HTN Classic presentation
Lab features
Notes
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APSGN
Pufy eyed kid, teacolored urine, RBCs, mild HTN after sore throat or impetigo
low C3, normal C4 Positive ASO, antiDNAseB
IgA nephropathy
Recurrent painless hematuria, usually after URI
IgA immune complexes in mesangium
HSP
Common cause of nephritis, but mostly younger kids 4-5
IgA immune complexes in mesangium
Lupus nephritis
Can present like APSGN
Consider if hematuria doesn’t resolve or C3 still abnl in 6-12w
Benign familial hematuria
Aut-dom (FHx); persistent or intermittent hematuria
Bx normal or thin basement membrane.
Goodpasture syndrome
Nephritis and pulmonary hemorrhage (hemoptysis)
Anti-basement membrane Ab (linear pattern)
Alport syndrome
hematuria (often asx, microscopic), proteinuria, renal failure, hearing loss
95-98% recover well Abx don’t decr. risk Steroids don’t help
No progression to chronic renal failure
Genetic (often Xlinked) defect in collagen synthesis = abnl basement membrane formation
Nephrotic syndromes: think marked proteinuria (>1,000 mg/m2/day); often mostly albumin in kids. ● can get hypoalbuminemia and hyperlipidemia (as liver ramps up production of lipoproteins to respond to low plasma oncotic pressure). Classic presentation
Lab features
Notes
Minimal change
Kid with periorbital edema, then lower edemity edma, wt gain, ascites
Normal light microscopy; podocyte foot process efacement on EM
#1 cause by far in kids Responds to steroids
FSGS
Older kids with nephrotic syndrome
Focal (only some glomeruli) & segmental (only part of glomerulus)
Membranoproliferat Older kids with ive GN (MPGN) nephrotic syndrome
Primary, or 2/2 HIV or use of some drugs (e.g. heroin)
IC deposits in subendothelial space
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--> rebuild BM on top --> tram tracks Membranous nephropathy
mostly adults
Subepithelial “spike & dome” deposits of ICs binding to GBM
Can be a/w SLE, HBV
Bartter syndrome: aut-recessive condition, aka juxtaglomerular hyperplasia ● P/W hypoK, hyperCa, alkalosis, hyperaldo, hyperrenin but normal BP ● FTT (small for height, weight), constipation, past episodes of dehydration with really low serum K ● Usually present between 6-12 months. Treat to prevent dehydration, nutritional support, fix K Posterior urethral valves ● think young male infant (only males!) with dribbling urinary screen, lower abdominal mass, U/S: bilateral hydronephrosis, bladder wall hypertrophy. Older kids can have FTT, renal dysfunction, UTIs ● get abdominal renal ultrasonography ● cath the kid to relieve obstruction; +/- abx if UTI suspected. ● definitive treatment: endoscopic transurethral valve ablation if Cr OK, urethra big enough ○ May need vesicostomy if UTI doesn’t respond or narrow lumen or high Cr. ○ may have persistent hydronephrosis / require continued abx ppx Vesicoureteral reflux (VUR) ● Retrograde flow into ureters / can go back to kidney; more common in females, can lead to recurrent UTI ● Tx depends on degree of reflux: from abx ppx to surgery ○ Roughly: grade 3 is where ureters start to enlarge. Monitor grade 1-2 +/- abx ppx, grade 3 - definitely abx ppx,, grade 4-5 think about referring for sugrical fix. ○ TMP/SMX is best for abx ppx; nitrofurantoin #2, amox not great ● VCUG shows ureters outlined on voiding (put contrast in blader, refluxes backwards) ○ Get annually, not more frequently (fluoro time is bad) ● Resolves at 13% per year Uretropelvic junction obstruction (UPJO): #1 cause hydronephrosis in chidlhood. Often visible in prenatal U/S. May need surgical correction if obstruction causes sx, worsens function. Kids with UTIs: Work up any male infant with UTI to evaluate anatomy, function (get renal U/S, VCUG) Enuresis: 15% of 5 year olds; 15% per year resolve. Males > F, fhx prominent, think social issues too. ● Rule out kidney lesions, spinal cord problems (look for sacral dimple, hairy tuft on back) ● Bed alarm can help behaviorally (70-90% success with parental support)
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● Consider desmopressin / imipramine for sleepovers, summer camps (doesn’t increase resolution rates)
Renal Tubular Acidosis All RTAs: have normal AG hyperchloremic metabolic acidosis ● Can prresent with FTT ● DDx: GI losses, exogenous Cl- (both would have negative UAG = normal, acid urine as you try to excrete) ● Treat with alkanizing agent (bicarb, citrate) to correct acidosis, restore growth. Type 1: distal RTA; deficient H+ secretion into filtrate ● has positive urine anion gap, with hypo/normokalemia and urine pH > 5.5 (really losing ability to acidify urine well, and K+ can get sucked out in the process) Type 2: proximal RTA. Proximal tubule doesn’t resorb bicarbonate. ● UAG is 0 or negative!! Normal! (no impaired ammonia secretion). Urine pH < 5.5. ● May use thiazide diuretics to increase prox tubule resorption of bicarb Type 4: also a distal RTA; hyperkalemia from hypoaldo / pseudohypoaldo --> impaired ammonia secretion ● has positive urine anion gap, with hyperkalemia (by definition) and urine pH < 5.5 (can still acidify the urine OK). ● Use furosemide to correct hyperkalemia. Fanconi Syndrome: Proximal tubular disease (type 2); can be secondary to genetic dz (cystinosis, galactosemia, Wilson disease) or drugs (aminoglycosides, expired tetracycline, cephalothin, cidofovir, valproic acid, 6-MP, azathioprine, cisplatin, heavy metals, etc.) - via acute tubular necrosis, alteration of renal blood flow, allergic reacitions. ● Anorexia, polydipsia, polyuria, vomiting, unexplained fevers ● Glucosuria with normal serum blood sugars ● High urine pH with mild/moderate serum hyperchloremic metabolic acidosis, UAG normal (0 or neg) ● Mild albuminuria with normal serum protein, albumin but low serum phosphorus, calcium
Rheumatology JIA (Juvenile idiopathic arthritis / formerly JRA) ● faint rash, joint pain, daily spiking fevers with waxing/waning body pain, joint swelling, morning stifness usually lasting > 30 minutes ○ CBC: thrombocytosis, leukocytosis, anemia ○ RF+: more like adult disease (50% progress to adult RA); RF-: better prognosis ● Categories: ○ Still’s disease (systemic-onset JIA): arthritis with visceral involvement
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(hepatosplenomegaly, serositis, lymphadenopathy) ○ Pauci (or oligo) articular JIA: JIA with 1-4 joints involved ■ Early-onset: females > males, a/w anterior uveitis, often ANA+ ■ Late-onset (>8y/o): males > females, a/w ankylosing spondylitis ○ Polyarticular JIA: JIA with 5+ joints involved ● Treatment: NSAIDs, steroids, methtrexate; monitor for anterior uveitis with slit-lamp exams. HSP: small vessel vasculitis common in young kids. IgA deposition in vessel walls ● Sx: Palpable purpura, nephritis, abd pain / GI bleeding (can lead to intussusception), arthritis. May be preceded by URI (often GABHS) ● Tx: initially hydration, pain control, usually doesn’t require more than supportive treatment, resolves usually within 4 mo although sx may last for 12 wks. Use systemic corticosteroids if severe GI/renal sx, may even need to step up to cyclophosphamide if really bad. Juvenile dermatomyositis; age 5-10y, girls > boys with proximal mm weakness (can’t climb stairs, lift hands over heads), malaise, fatigue, wt loss, intermittent fevers, heliotrope rash (purple around eyes), gottron papules (scaly erythematous patches on extensor MCP/interphalangeal joints of fingers, elbows, knees). ● Elevated serum CPK! ● Disease happening in small blood vessels (humorally mediated with immune complexes, C’ activation, CD4+ lymphocyte infiltration --> capillary, mm injury) ● Give corticosteroids (oral pred or pulse methylpred) ● DDx: Polymyositis less common in children - in polymyositis, see CD8 lymphs attacking muscles directly Kawasaki Syndrome: a generalized disease of unknown origin, ? infectious ● Dx: CRASH & Burn on your Kawasaki motorcycle: ○ Conjunctivitis (bilateral, nonpurulent) & Cervical lymphadenopathy (acute, nonpurulent) ○ Rash (polymorphous, primarily truncal) ○ Aneurysm risk - RISK FOR CORONARY ANEURYSM DEVELOPMENT!!! ○ Strawberry tongue ○ Hands & feet (edema / erythema changes acutely, then periungual desquamation when convalescing) ○ Burn: must have fever for at least 5 days (or fewer if defervescence after IVIG) and no other more likely etiology!) ● Most common in Asians but does occur worldwide, most frequently in kids < 5 years ● Labs: elevated CRP, ESR, normocytic anemia, thrombocytosis ● Tx early with IVIG, aspirin (reduces aneurysm development) ○ Hold vaccines for 11 months after IVIG (won’t work!) ○ Get flu vaccine when on prolonged aspirin therapy (later, after IVIG out of system) to help avoid Reye syndrome when taking aspirin ● Coronary aneurysm development more common if: male, fever > 10 days, age < 12 mo, low serum albumin / Hb, early cardiac findings, thrombocytopenia
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SLE in mom can cause neonatal heart block Classic findings for rheum conditions Dry eyes / mouth
Sjogren
Gottron papules
Juvenile DM
Oral / nasal ulcers
SLE, Wegener, Bechet
Nailfold capillary changes
SLE, DM, scleroderma, Kawasaki
Chest pain / pleuritis
SLE, systemic JIA
Purpura
HSP, small/medium vessel vasculitis
Arthritis
JIA, SLE
Malar rash
SLE, dermatomyositis
Muscle weakness
Juvenile dermatomyositis
Raynaud phenomenon
SLE, scleroderma
Skin tightening
Scleroderma
Labs in rheum conditions Thrombocytosis
Systemic RA
Sterile pyuria
Kawasaki
ANA
SLE, scleroderma, sjogren, JRA (not systemic)
anti-dsDNA, anti-smith, antiphospholipid ab
SLE
Rheumatoid factor
RF-positive polyarticular JIA
Low C3/C4
SLE
Elevated CPK
juvenile dermatomyositis
Anti-Ro, Anti-La
Sjogren syndrome
Adolescence Timing of puberty ● Males: testicular enlargement, then pubic hair, penis lengthening, then max height velocity ● Females: thelarche, pubarche, maximal height velocity, then menarche Delayed puberty: no signs by age 13 in girls or no menacrhe 3 yrs after start of puberty, age 14 in boys ● Think gonadal failure, chromosomal abnormalities (Turner/Klinefelter), hypopituitarism, chronic disease, malnutrition ● Constitutional delay is #1 caues (90-95%) - with delayed bone age, slow growth, fhx. Precocious puberty: signs earlier than age 7 in girls, age 9 in boys (may be earlier for AA girls)
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● Sex hormones generally appropriate for stage of puberty, but not for chronological age: estradiol in F, T in M ○ LH/FSH vary, so single sample not good enough. ○ Use GnRH stimulation test instead (GnRH, measure LH/FSH response) ■ Central = gonadotrophin dependent. ● 90% girls idiopathic; structural CNS lesion in 25-75% boys ■ Peripheral = gonadotrophin indep. (exposure: creams, OCP or adrenal/ovarian tumors) ● Bone age > chron age on radiographs. ○ Treat w/ non-pusatile GnRH analogs (leuprolie): keep epiphyses from closing, preserve final ht Specific syndromes on ddx of precocious puberty Remember, MIF inhibits the Mullerian ducts, testosterone induces the Wolffian ducts ● McCune Albright syndrome: ○ “Coast of Maine” cafe-au-lait spots, precocious puberty, polyostotic fibrous dysplasia (medullary tissue of bone replaced with fibrous tissue - weaken bone, cause deformity) ● CAH: Increased androgens but not gonadotropins ○ Females: ambiguous genitalia (46,XX) with masculinization from androgens; ddx includes exposure to maternal androgens, congenital vaginal absence. Both Wolffian & Muellerian ducts ○ Males: virilization (aggression, increased height/wt, pubic hair, muscles, oily skin, masculine voice) , but with prepubertal testicular size. Remember male infants can have normal genitalia but can be salt-wasters (FTT) ○ Get 17-hydroxyprogesterone if suspicious ○ Can treat with hydrocortisone (depresses adrenal production of androgens). Give hormones at puberty, can use estrogen-containing PO meds in females, depot androgen injections in males. ● Congenital androgen insensitivity syndrome: ○ 46, XY with testes in abdomen but don’t respond to androgens = externally female ○ Wolffian (internal male) structures, but no internal female structures (have MIF) ○ No external masculinization = no pubic hair, etc. (but normal breast development). Vagina oten ends in blind pouch. ○ Typically this is a really feminine girl who goes through “normal” pubertal development breast-wise but never menstruates or develops pubic hair, found to have a blind vaginal pouch on exam, genotype ends up being 46, XY ● Prader Willi - chr 15q, paternal deletion ○ hypotonia, FTT, hypogonadism early in life ○ hyperphagia, obesity, MR, bizarre behavior by 6 years; limited sexual function Premature adrenarche: early activation of androgens (pubic/axillary hair, body odor) ● usu. girls age 6-8; also if in boys < 9 ● Adrogens normal for pubertal stage but high for chronolgic age.
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Premature thelarche: early breast development w/o growth change, pubic / ax hair ● usually girls age 1-4, most common at 12-24m from transient estrogen bursts from prepubertal ovary. In both of the above, normal growth rate & bone age are seen. Tanner staging Tanne r
Breast development (F)
Genitals (M)
Pubic hair (M & F)
I
prepubertal
prepubertal
none
II
breast bud, areola widens
testes, scrotum larger scrotum reddens, changes texture
sparse, longer, lighter hair @ base of penis, along labia
III
elevation of breast + areola
penis enlarges (length) testes, scrotum grow more
darker, coarser, more curled along pubic jxn
IV
areola projects above breast contour
penis enlarges (thickness, glans develops) testes, scrotum grow, darker scrotum
adult-type hair, no spread to thighs
V
mature stage; smooth contour & areola
adult
adult-type hair, spread to thighs
Mittleschmerz - sudden onset of RLQ or LLQ pain with ovulation; can have mucouid vaginal discharge ● On ddx of appendicitis! Dysfunctional uterine bleeding: ● Categorizations ○ Menorrhagia: excessive / prolonged bleeding with a regular menstrual cycle ○ Metrorrhagia: irregular bleeding between menstrual cycles ○ Menometrorrhagia: irregular uterine bleeding with excessive / prolonged flow ● Tx: ○ Hb > 12: Iron & follow-up ○ Hb 9-12: Treat with a few cycles of OCP and iron ○ Hb < 9: IV estrogen & may need hospitalization, transfusion Ectopic pregnancy: abdominal pain, vaginal bleeding, amenorrhea classic, but only in 50% cases
Substance Abuse PCP intoxication ● Phencyclidine, angel dust, horse tranq, happy leaf. piperidine like ketamine; originally anesthetic (NMDA receptor blocker), long-acting (6h short-term efects, full efect can
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● ● ●
last several days, variable behavioral changes, unpredictible), often with MJ Dysarthria, nystagmus (vertical), belligerent, hyperacusis, ataxia, muscle rigidity, can cause sz / coma, numbness, HTN / tachy Treatment: treat HTN, can acidify urine to increase excretion, hospitalize in a quiet dark room. Gastric lavage / charcoal can help. treat seizures as needed Avoid restraints (more muscle breakdown), gastric lavage (emesis / aspiration), typical antipsychotics (anticholinergic side efects make it worse). Benzos can delay excretion, so avoid those too.
Alcohol dependence: ● Lab tests: elevated liver transaminases (particularly gamma-glutamyl transferase, GGT) and macrocytic anemia Alcohol acute use: ● manage with respiratory support, gastric lavage / charcoal, thiamine / glucose as needed Alcohol withdrawal: ● Typical stages: tremulousness / jitteriness (6-8h), psychosis / perceptual sx (8-12h), seizures (12-24h), DTs (24-72h, up to 1 wk) ● DTs: disorientation, tremors, elevated vital signs, fluctuating consciousness poststoppage, can be fatal! ● DDx vs thyrotoxicosis, pheochromocytoma, inappropriate use of beta-agonist inhalers / sympathomimetics. ● Use long-acting benzos (chlordiazepoxide, diazepam). Oxazepam, lorazepam are good if liver function may be compromised Cocaine intoxication: ● Behavioral: euphoria, bluted feelings, hypervigilance, hypersensitivity, anxiety, poor judgment, anorexia ● Physical: dilated pupils, autonomic instability, chills/sweating, n/v, PMA/R, chest pain / arrhythmias, confusion / sz / stupor / coma, wt loss Cocaine withdrawal: can last 2-4 days or longer, "crash" (dysphoria, irritibility, anxiety, hypersomnia, depressive sx incl SI). ● Intox - withdrawal during lifetime of addiction can mimic bipolar disorder in the history! Amphetamine intoxication: causes adrenergic hyperactivity (tachy, pupils dilated, hypertensive, perspiring, chills, nausea / vomiting, anorexia / wt loss, mm weakness, can have hallucinations, resp depression chest pain, arrhythmias, confusion, sz, dyskinesia, dystonia, coma can result) ● Meth gives you bad dental problems (meth mouth) + paranoia, hallucination / tics / aggression ● Treat overdose with benzos / haloperidol, cooling blankets if needed, treat HTN / arrhythmias PRN Amphetamine withdrawal: the "crash" (anxiety, tremors, lethargy, fatigue, nightmares, headache, extreme hunger) Opioid intoxication: apathy, PMR, constricted pupils, drowsiness ● Tx: cardiorespiratory support, gastric lavage / charcoal if ingested, naloxone if ODing Opioid withdrawal: nausea / vomiting, muscle aches, fluids from all orifices, autonomic hyperactivity, fever, dilated pupils, depressed / anxious mood, rarely life-threatening
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● ● ●
Generally, longer-acting substances give less withdrawal Ibuprofen can help muscle aches Can use clonidine for autonomic hyperactivity in acute-phase + methadone (long-acting opiate)
Marijuana: ● Acute use: elation, relaxation, impaired cognition; mood instability, hallucinations. Drowsiness, slowed reaction times, tachycardia, orthostatic hypotension, injected conjunctiva, dry mouth. ● Tx: can use benzos if severely agitated Ecstasy (MDMA): ● Acute use: sense of happiness, enhanced well being; agitation, confusion, shock can result. hyperthermia, hypertension, tachycardia, tachypnea, dilated pupils, agitation, hyponatremia possible. Give activated charcoal, benzos for agitation / HTN, FEN management, cooling blanket if needed Hallucinogens (e.g. LSD) ● Acute use: euphoria, increased alertness; nausea, anxiety, paranoia, hallucinations, coma. Restlessness, labile afect, hyperthermia, tachycardia, HTN, flushing, pupil dilation, injected conjunctiva, hyperreflexia ● Tx: talk down in calm environment; benzos, cooling blanket if needed, HTN treatment Inhalants ● Acute use: euphoria, impaired judgement; progresses to hallucinations, psychosis, sz, coma. Agitation / stupor, sluured speech, nystamus / tearing, rhinorrhea, increased salivation too. ● Tx: cardiorespiratory support as needed.
Miscellaneous Cold Injuries ● Frostnip: small, firm, cold, white patches of skin in exposed areas. Rewarm areas to treat. No tissue necrosis involved. ● Chilblain: aka pernio, perniosis. Small, ulcerate, purple, edematous plaque/nodules on exposed areas (ears, fingers) that can last 1-2 weeks & can be really pruritic. Develop 12-24h after exposure. Don’t pop blisters, don’t warm with really hot water (asensate in that area!) ● Cold panniculitis: destruction of fat cells after exposure to cold or cold object (e.g. Popsicle panniculitis, on cheek). Can even look vasculitic. ● Trench foot: prolonged exposure to cold/moisture . cold, numb, pale, edematous foot. Can have autonomic disturbance for years afterwards. ● Frostbite: tissue is frozen & destroyed. Stinging --> aching --> numb areas that are hard & cold. When rewarmed, becomes red, blotchy, painful. Careful for gangrene afterwards. ○ Prevent further exposure ○ Remove wet clothes
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○ Rewarm directly by skin-skin contact (not a fire, not with friction). Give tetanus ppx! ● Hypothermia: cold weather exposure; core temp drops --> tired, uncoordinated, lethargic, apathetic, mentally confused, irritable, bradycardic Teeth: see mandibular before maxillary teeth and incisors first, work way back to molars. Girls before boys.
Child Abuse ● Force feeding -> transect the lingual frenulum ● Pancreatitis in an infant is abuse until proven otherwise. ● Retinal hemorrhage: abuse is #1,2,3 in ddx. 30% have @ 24h of birth, but most resolve in several days.
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Highly suspicious fractures 1. Classic metaphyseal lesions 2. Posterior rib fx esp in non-ambulatory child 3. Scapular or sternal fx in a child less than 3 Moderate concern fx: multiple fx, diferent ages, skull fx, vertebral fx Most likely accidental fx: clavicular, long bone, linear skull fx
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