Peds Shelf Notes

Peds Shelf Notes

Cardiovascular DermatologyDevelopmentEndocrinology FluidsGenetics & Other Congenital StufGI / NutritionGU / UrinaryHematology Infectious DiseaseNeonatology Neurology Oncology OphthalmologyOrthopedics Psych PulmonologyRenal RheumatologyAdolescenceMiscellaneous

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 of the Great Arteries

Aorta, pulmonary artery switched. 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 1). Pulmonary stenosis

2). Overriding aorta 3). VSD

4). RVH.

A/w 22q11 (DiGeorge)

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

Pulmonary

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 tricuspidvalve 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

A/w lithium during pregnancy, also a/w WPW 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 (PA-IVS) 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 Cardiac surgeries

● Norwood procedure: connect subclavian to pulmonary artery (modified blaylock-taussig 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.

● 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 mid-to-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

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

● 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

● 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.

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

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).

● 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?), self-limited

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.

Development

Gross motor Fine motor Language Social Other

1 mo _{from exam table}Start to lift head midline only,Follow eyes to hands clenched Alerts / startles to sound; starts vocalizing a bit Regards parents’ faces Smiles spontaneously Responds to bell

2 mo Raises chest, liftshead of table if prone Follows object 180 degrees; holds rattle briefly Coos, reciprocal vocalization Smiles socially, laughs, squeals, recognizes parent Sleep through night (2-3 mo) 3 mo Follows toy fromside to side &

vertically

4 mo

Rolling over Head control with

no lag; lifts onto elbows

Reaches with both hands together, bats at

objects, grabs & retains

Orients to voice,

laughs, squeals Initiates socialinteraction

6 mo

Sitting up; tripoding (needs support) Reach for objects

Roll over well

Reaches with one hand & can

btransfer hand-hand Babbles Recognizes objects, persons as unfamiliar Introduce juices in cup, not bottle 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 _{independently}Walks well

Two cube tower, throws ball underhand 4-6 words + jagon, responds to 1 step command Uses cup, indicates wants / needs

18 mo stairs with help,Runs, walks up 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 Potty training (or when child shows interest) 3 yr Tricycle, broad Copies circle 250+ words Knows age,

jumps 3-8 word sentences 75% speech intelligible gender; group play, shares

4 yr Stand on each leg_{for 2 seconds}

Copy square / cross, catches ball 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

5 yr for 5 seconds / skipsStand on each leg 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

● 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:

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

○ 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.

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.

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

● 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,

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)

high n/a n/a

neural tube defects like spina bifida associated with increase levels of acetylcholinesterase in aminonic fluid, or omphalocele, or gastroschisis, or multiple gestation

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,

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

Tay-Sachs 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 x-ray

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-2-_sulfatase 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.

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.

Most commonly deficiency in galactose-1-P uridyl

transferase.

Higher risk for e. coli sepsis. Tx: remove galactose from diet.

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.

Deficiency in phenylalanine hydroxylase (can’t convert phenylalanine to tyrosine). Neonatal screened. Tx: restrict phenylalanine consumption Homocystinur ia (d/o of amino acid metabolism)

no sx in infancy but look like Marfan’s. Vascular thromboses --> childhood stroke, MI

Cystathione synthetase deficiency (can’t convert met to cys/ser). Dietary

management hard (low protein, foul tasting). 50% respond to high dose pyridoxine

OTC

Deficiency (AA / urea cycle disorder)

Presents 24-48h after proteins introduced in feeds - lethargy, coma/seizures, high ammonia.

Can measure level of orotic acid (byproduct of carbamoylphosphate metabolism) in urine to help dx

X-linked OTC deficiency. Urea cycle problem (ornithine + carbamylphosphate --> citrulline in mito). Can’t make urea = ammonia builds up! Tx: very low protein diet (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

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

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

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:

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!)

Tx:

● Education, environmental eval, etc.

● Chelation if Pb > 45 (DMSA/succimer or CaEDTA).

● Hospitalize & chelate if BLL > 70. Admit if symptomatic

Organo-phospha 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

e Toxin found in Cortinarius spp of mushrooms● 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

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. Methyl

mercury

(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 24-48hPeak liver function abnormalities in 2-3 days; either recover or get worse in 2-3 wks

Treat with n-acetylcysteine

Anti-cholinergi 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)

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 (seeincreased 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

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)

Comparison of Ca/Phos/PTH disorders

Ca Pho

s PTH Other

Vitamin-D

resistant rickets NL Low 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)

Pseudohypo-parathyroidism 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 NL

MTC may make calcitonin but normal

ca/phos/PTH unless MEN type II (with associated hyperparathyroidism)

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.

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

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 /

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.