Pediatrics Flashcards
Child abuse
Neglect; physic/sex/psych malttt
Story not consistent w/ PE
RF: parent w/ alcoh/drug use; child w/ complex med prob; repeated hospit
Dg: X-ray/CT (fx diff stages); tests for STDs; ophthalmo exam; noncontr head CT/MRI
ttt: document injuries + notify Child Protect* +/- hospit
Common presentations and mimics of child abuse
Bruises: mongolian spots
Burns: scalded skin sd; sev contact dermatitis
Fractures: osteogenesis imperfecta
Abusive head trauma: accidental head trauma
Congenital heart disease
RF: maternal: drug use, inf, illness
- Acyanotic: L-R shunt (VSD, ASD, PDA) are acyanotic unless develop of Eisenmenger (shunt reversal + pulm HTN)
- Cyanotic: R-L shunt; 5Ts (Truncus arteriosus, transposit* of great Vx, Tricuspid atresia, Tetralogy of Fallot, Total anomalous pulmonary venous return)
Septal defects (PE, dg)
ASD: small asympt; large fatig/fqt resp inf/FTT
Wide fix split S2; syst ejec murm LUSB; RVH, RA enlarg, PR prolong
VSD: small asympt; large fqt resp inf/FTT/CHF/dyspn
Narrow S2 w/ ↑P2; harsh holosyt murm LLSB (louder if small); LVH
Septal defects (ttt)
- Most ASD/VSD close spont; no ttt
- Follow-up echo based on size + PE
- No AB prophyl needed
- Surg repair in sympt if failure of meds; if <1yo w/ pulm HTN; >1yo w/ large defects; early surg prevents compl
- ttt CHF w/ diuretics, inotrop ⊕, ACEI
Septal defects (associated syndromes)
ASD: FAS, tris 21
VSD: FAS, tris 21, TORCH inf, cri du chat sd, tri 13, tri 18
Patent ductus arteriosus (PE)
Acyanotic L-R shunt
Asympt; if large then FTT; recurr LRT inf; clubbing; CHF
Continuous murmur at 2nd left intercost space
Loud S2; wide pulse pressure
Bounding periph pulses
Patent ductus arteriosus (dg, ttt)
Dg: echo + Doppler; if large then LA+LV enlargement
ECG (LVH); CXR (cardiomegaly)
ttt: indomethacin (NSAID) unless PDA needed for survival or if CI (intraventr hge)
If it fails or if >6-8mo, surg
4 #dg for infant in shocklike state in first few weeks
Sepsis
Inborn errors of metabolism
Ductal-dependent congenital heart ds
Congenital adrenal hyperplasia
Coarctation of the aorta (RF)
Esp distal to left subclav art
↑flow proximal, ↓flow distal
Ass w/ Turner sd, berry aneurysms, male
Bicuspid AV in >2/3
Coarctation of the aorta (PE)
Asympt upper extrem HTN
If collaterals present, continuous murmur in all torso
Lower extrem claudicat*, syncope, epistaxis, headac
Weak femoral pulses, radiofemoral delay
If critical, PDA for survival (poor feed, lethargy, tachypn)
Coarctation of the aorta (dg, ttt)
Dg: echo + Doppler; CXR (cardiomeg, pulm congest*, rib notch); ECG (LVH)
ttt: if severe, keep PDA open w/ PGE1; surg/balloon angioplasty
Monitor for restenosis, aneurysm, Ao dissect*
Transposition of great vessels (RF)
Cyanotic; Ao to RV; PA to LV
Incompat w/ life if no ASD/VSD + PDA
PDA alone not sufficient
RF: DM in mom; DiGeorge sd
Transposition of great vessels (PE, dg, ttt)
Cyanosis first few hours, tachypn, hypoxemia
CHF; single loud S2
No murmur if no VSD assoc
Dg: echo; CXR (narrow heart base, egg-shape)
ttt: IV PGE1; surg (if cannot be done emerg, balloon atrial septostomy)
Tetralogy of Fallot (RF, dg)
Cyanotic (early R-L shunt in VSD then L-R))
RV outflow obstruct*, overrid Ao, RVH, VSD
RF: maternal PKU; DiGeorge sd
Dg: echo and cath; CXR (boot shaped); ↑pulm vasc markings; ECG (right-axis deviat* + RVH)
Tetralogy of Fallot (PE)
Asympt till 4-6mo then CHF + tachypn/dyspn, fatigue
Cyanosis (not at birth, dev over 2y), FTT
Child squat for relief when hypoxemia (↑SVR, ↑bld flow to pulm, ↑oxygenat)
Systolic eject murmur at left upper sternum, RV heave, single S2
Tetralogy of Fallot (ttt)
Severe RV obstruct* or atresia: immed PGE1 + urgent surg
Hypercyanotic tet spells: O2, proprano, phenyleph, knee-chest posit, fluids, morphine
Temporary palliat: balloon atrial septostomy then surg
Major milestones in language development
12mo: 1 word, 1-step command
15mo: 5 words
18mo: 8 words
2yo: 2-word phrases, 2-step command, 50% intelligible
3yo: 3-word phrases, 75% intelligible
4yo: 100% intelligible
Growth (head circumf, height, weight)
- Head circumf: routinely till 2yo; ↑hydroceph/tumor; ↓microceph
- Height/Weight: routinely till adult; check pattern; NN may ↓10%BW in first days but ↑in 14d; double BW at4-5mo; triple at 1yo; quadruple at 2yo
FTT: ↓weight then height then head circumf
Weight<5th percentile for age or ↓2 major percentile lines
Failure to thrive
- Organic: medic ds
- Nonorganic: psychol (poverty, maternal depress*, neglect, abuse)
Hospit if neglect or sev malnourish
ttt: caloric count + supplements if breastfeed inadeq
Sexual development
Tanner staging: boys (testic, penis, pubic hair); girls (breast, pubic hair)
Puberty: boys ~11.5yo; girls ~10.5yo (menarche ~12.5yo)
Precocious puberty: boys ≤9yo; girls ≤8yo
Delayed puberty: boys ≥14yo; girls ≥13yo
Pathologic puberty delay
Systemic ds
Malnutrition
Gonadal dysgenesis (Klinefelter, Turner)
Endocrine abNl (hypopituit, hypothyroi, Kallmann, androg insensitivity, Prader-Willi)
Down syndrome
Esp meiotic nondisjunct*; Robertosian transloc; mosaicism
Ass w/ atlantoaxial instability; duodenal atresia; Hirschsprung ds; congen heart ds (esp AV canal def)
↑R of ALL; hypothyroidism; early Alzheimer
Edwards syndrome
Rocker-bottom feet; low-set ears; micrognathia; clenched hands; prominent occiput
Congen heart ds
Death in 1y
Patau syndrome
Microphthalmia; microceph; cleft lip/palate; holoprosencephaly; polydactyly; omphalocele
Congen heart ds
Death in 1y
Klinefelter syndrome
47,XXY; inactivated X (Barr body)
Ass w/ ↑mat age
Hypogonadism
ttt: testosterone (prevent gynecoma; ↑2* sex charact)
Turner syndrome
45,XO; missing X (no Barr)
Ovarian dysgenesis
Coarct Ao, bicuspid AV
ttt: estrogen
Double Y males
47,XYY
↑fqcy in inmates of penal institutions
Often look Nl; some ptts very tall w/ severe acne
Phenylketonuria
↓phenylalanine hydroxylase or ↓tetrahydrobiopterin cofactor; AR; in first few months
↑phenylalanine but ↓↓tyrosine
Intellect disab; fair hair/skin; eczema; blond; blue eyes; musty odor; ↑R heart ds
ttt: ↓phenylal + ↑tyrosine
Fragile X syndrome
Defect in methylat/express of FMR1 gene
Triplet repeat disorder; X-link D
Large jaw, testes, ears
Intellect disability; autistic behav
Fabry disease
↓alpha-galactosidase A so ↑ceramide trihexoside
X-link R
Sev neuropath limb pain; angiokeratomas; telangiect
Renal failure; ↑R stroke/MI
Krabbe disease
↓galactosylceramide/galactoside so ↑galactocerebroside
AR
Progress CNS degenerat*; optic atrophy; spasticity
Death in 3y
Gaucher disease
↓glucocerebrosidase so ↑glucocerebroside
AR
Crinkled paper cells
Anemia, thrombocytopenia; rapid neuro decline
Niemann-Pick disease
↓sphingomyelinase so ↑sphingomyelin
AR
Cherry-red spot + HSMG
Tay-Sachs disease
↓hexosaminidase so ↑GM2 ganglioside AR Normal till 3-6mo, weakness + devel regress* Cherry-red spot but NO HSMG Death by 3yo
Metachromatic leukodystrophy
↓arylsulfatase A so ↑sulfatide
AR
Demyelination then progress ataxia + dementia
Hurler syndrome
↓alpha-L-iduronidase
AR
Corneal clouding, intellect disabil, gargoylism
Hunter syndrome
↓iduronate sulfatase
X-link R
Mild Hurler sd; NO corneal clouding
Mild intellect disabil
Cystic fibrosis (presentation)
AR; mutat* in CFTR gene; esp in white
Exocrine gland dysfct; chloride channel
Present w/ obstruct of distal ileum (abNl thick meconium)
<1yo: cough, wheez, recurr resp inf; steatorrhea; FTT
>1yo: FTT (pancreat insuff) or chronic sinopulm ds
Cystic fibrosis (PE)
- Recurr resp inf (Pseudo, staph aureus) w/ cyanosis, digital clubbing, chronic cough, dyspn, nasal polyposis
- Pancreat insuff: steatorrh, flatul, rectal prolapse, hypoprot, biliary cirrhosis
+ DM2; salty-tasting skin; male infertility; hyponatremia
Fat-soluble vitamin def (ADEK) w/ their manifest
Cystic fibrosis (dg, ttt)
Dg: sweat chloride test; confirm by genetic
!!! mandatory newborn screening
ttt: chest physical therapy, bronchodilators, CS, AB (cover Pseudo) + DNase Give pancreatic enzymes + vit ADEK High-calorie + high-protein diet Lung or pancreas transplants Death around 40yo
Intussusception (RF, PE)
#1 bowel obstruc in 6mo-3yo; esp boys Esp proximal to ileocecal valve RF: potential lead points (Meckel divert, intest lymphoma, submucosal hematoma, polyp, CF)
Triad: abrupt episodic abdo pain, vomit, bloody mucus in stool (currant jelly)
Palpable RUQ mass, empty RLQ
Intussusception (dg, ttt)
Dg: US (#1; target sign) during episode
AXR (later in ds, obstruct/perforat/mass)
ttt: correct volume/e- abNl; CBC; NG tube (decompress)
Air insufflat enema (dg+cure)
Surg: if peritoneal signs, unsuccess enema, pathol lead point
Pyloric stenosis (RF, PE)
Hypertrophy of pyloric sphincter
Esp 1st born male
Ass w/ TE fistula; formula feed; matern erythromycin
Nonbilious projectile emesis; at 3-5wks
After meals, bb stays hungry; dehydrat* + malnutrit*
Palpable olive mobile nontender epigastric mass
Pyloric stenosis (dg, ttt)
Dg: abdo US; hypochloremic hypokalemic metabolic alkalosis; RAAS activat*; barium study (narrow pylor)
ttt: NPO + IV access (dehydrat* + e- correct*)
Surg (pyloromyotomy)
Meckel diverticulum (PE)
Failure of omphalomes/vitelline duct to obliterate True divertic (3 layers); esp boys
2 inches long; 2 feet of ileocecal valve
Gastric or pancreatic tissue
Asympt; painless rectal bleed
Meckel diverticulum (complications, dg, ttt)
Compl: intest perforat/obstruct; diverticulitis (#dg w/ appendicitis); intussuscept*
Dg: Meckel scintigraphy scan (Tc99m for ectopic gastric tissue); AXR (perforat/obstruct)
ttt: surg excis; emergent if hge, diverticulitis, perforat, obstruct, intussuscept
Hirschsprung disease (RF, PE)
Congen lack of gg cells distally
Ass w/ male; Down sd; MEN2
Failure to pass meconium in 48h; bilious vomit; FTT
If mild: chronic constip later in life
Abdo distens*; explosive discharge of stool after DRE
Hirschsprung disease (dg, ttt)
Dg: barium enema (#1; narrow dist colon + prox dilat*)
AXR (paucity of air in rectum); anorectal manometry (failure of internal sphincter to relax)
!!! Rectal biopsy confirms dg (No Auerbach+Meissner plexuses + hypertrophied nerves)
ttt: 2-stage rectal surg
Malrotation with volvulus (PE)
Congen malrotat* of midgut
Cecum in RUQ + fibrous (Ladd) bands
↑R of obstruct, constrict of bld
Esp 1st month of life w/ bilious emesis
Abdo cramps, distenst, bld/mucus stool
Later in life: postsurg adhes lead to volvulus
Malrotation with volvulus (dg, ttt)
Dg: AXR (bird-beak; air-fluid levels)
Upper GI series (#1 if ptt stable)
ttt: NG tube + IV hydrat* Emergent surg (if gastric V); or endoscop (if intest V)
Necrotizing enterocolitis (PE, complications)
Necrosis of bowel (term ileum/prox colon)
#1 GI emergency in NN; esp premature infants
RF: low birth weight; hypoTN; enteral feeding
1st few days/wks of life; feeding intoler; delayed gastric emptying; abdo distens*; bld stool
Rapidly intest perfor, peritonitis, shock
Compl: intest strictures; short-bowel sd
Necrotizing enterocolitis (dg, ttt)
Dg: hyponatremia; metab acidosis; ↑WBCs w/ left shift; ↓plts; coagulop
AXR (#1; dilated bowel loops; pneumatosis intestinalis; portal venous gas; abdo free air=perfor) every 6h
ttt: NPO + orogastric tube + correct dehydrat* and e- + TPN and IV AB
Surg: if perforat* or worsening AXR
Immunodeficiency disorders
Congen
Chronic or recurr inf; unusual or opportun microorg
Incomplete ttt resp or FTT
Bruton agammaglobulinemia
X-linked R; B-cell def; only in boys
>6mo age when No maternal IgG
Encapsul org inf; life-threat
Dg: qtty of Ig, if low confirm that B-cell def; absent tonsils/lymphoid tissue
ttt: prophyl AB + IVIG
Common variable immunodeficiency
B-cell + T-cell def; all Ig levels low; at 15-35yo
Normal B-cell nb but ↓plasma cells
↑pyogenic up/low resp inf; ↑lymphoma/autoimm ds
Dg: qtty of Ig; confirm w/ B+T cell nb
ttt: IVIG
IgA deficiency
1 immunodef; mild; only ↓IgA
Asympt or recurr resp or GI inf
Anaphylactic transfus* react* (anti-IgA Ab)
Dg: qtty of IgA; ttt inf
ttt: IgA-depleted IVIG
Thymic aplasia (DiGeorge syndrome)
AD; CATCH22; tetany (hypoCa) first few days of life
↑↑↑↑inf w/ viruses, fungi, PCP
Absent thymic shadow (CXR)
Dg: absolute T-cell count; delayed hypersens skin test
ttt: bone marrow tranplant + IVIG; PCP prophyl
Ataxia-telangiectasia
AR; mut in gene for repair of dsDNA breaks
Cerebellar ataxia + oculocutan telangiect
↑NHL/leukemia/gastr carcinoma
ttt: IVIG dep on severity of Ig def
SCID
X-linked R; severe lack of B+T cells
Confine to isolated sterile environment
Severe fqt bact inf, chron candida, opportun inf
ttt: BM or SCT + IVIG; PCP prophyl
Wiskott-Aldrich syndrome
X-linked R; only in male
At birth; ↑IgE/IgA, ↓IgM and ↓plts
Bleeding, eczema, recurr otitis media
↑↑R of atopic dso; lymphoma/leuk; encaps org inf
ttt: IVIG + AB; if sev inf then BMT
Rare survival to adult
Chronic granulomatous disease
X-linked R or AR; def superoxide by PMNs/macroph
↓RBCs, LNpathy, hypergammaglob
Chronic skin, LN, pulm, GI, UTI infect*, osteomyelitis, hepatitis
Microorg catalase⊕; granulomas of skin/GI/GU
Dg: ANC; dihydrorhodamine + nitroblue tetrazolium tests
ttt: daily TMP-SMX; AB when inf; IFN-gamma; BMT and gene therapy
Leukocyte adhesion deficiency
Def leukocyte chemotaxis
Recurr skin, mucosal, pulm infect*
NN: omphalitis + delayed separ of umb cord (>14d)
Dg: No pus + minimal infl in wounds; ↑WBCs
ttt: BMT