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Peds Points

Terms in this set (77)

Dx of esophageal atresia
1) CXR with esophageal and gastric air bubble
2) Coiling of NG on CXR
Presentation of Esophageal atresia
--vomiting with first feeding
--frothing, cough, cyanosis, and respiratory distress with feeds
--no respiratory distress at rest
--hx of polyhydramnios
--recurrent aspiration PNA
Pyloric stenosis: most accurate test
upper GI series
--turn blue when feeding, turn pink when crying
Choanal atresia
Choanal atresia: dx confirmation
CT scan
associated with CHARGE syndrome
choanal atresia
Hirschsprung Disease: presentation
--do not pass meconium for > 48 h
-- extreme constipation with large bowel obstruction
--rectal exam with tight sphincter
Hirschsprung Disease: dx test findings
1) x-ray
2) contrast enema
3) manometry
1) xray: distended bowel loops, lack of air in rectum
2) contrast: retention of barium > 24 h
3) manometry: high pressure anal sphincter
associated with VACTERL syndrome
imperforate anus
duodenal atresia: presentation
--onset of bilious vomiting within 12 h of birth
duodenal atresia: dx test
CXR with double bubble sign
volvulus tx
initial therapy is endoscopic decompression, if fails need surgical decompression
Intussusception presetnation
--colicky abdominal pain
--bilious vomit
--currant jelly stool
--sausage-shaped mass
intussusception dx test
1) best initial test = US
2) barium enema is both diagnostic and therapeutic (contraindicated in peritonitis, shock, perf)
-- painless rectal bleeding in 16 mo old
Meckel Diverticulum
Meckel Diverticulum most accurate test
technetium 99m scan
Findings in IDM
1) macrosomia
2) polycythemia
3) small L colon syndrome
4) VSD, asymmetric septal hypertrophy
5) renal vein thrombosis (flank mass, bruit, hematuria)
metabolic findings in IDM
1) hypoglycemia: seizure
2) hypocalcemia: tetany
3) hypoMg: hypocalcemia, PTH disease
4) hyperbili: icterus, kernicterus
17alpha-hydroxylase
1) aldo level
2) cortisol level
3) sex hormone level
4) HYPER/HYPOtensive
5) sex development girls
6) sex development boys
7) electrolyte abnormal
1) aldo level: increase
2) cortisol level: decrease
3) sex hormone leve: decrease
4) HYPER/HYPOtensive: HYPER
5) sex development girls: normal at birth
6) sex development boys: pseudo-hermaphroditism
7) electrolyte abnormal: hypokalemia
increased 17 OH progesterone
21 hyroxylase CAH
21 hydroxylase
1) aldo level
2) cortisol level
3) sex hormone level
4) HYPER/HYPOtensive
5) sex development girls
6) sex development boys
7) electrolyte abnormal
1) aldo level: decrease
2) cortisol level: decrease
3) sex hormone level: increase
4) HYPER/HYPOtensive: HYPO (salt wasting)
5) sex development girls: virilized
6) sex development boys: normal at birth
7) electrolyte abnormal: hyponatremia, hypochloremia, hyperkalemia
increased 11-DOC with hypertension
11 beta hydroxylase
--calcium nL or decreased
--phosphate decreased
--1,25 vit D decreased
--25 vita D decreased
vitamin D deficient rickets
--calcium decreased
--phosphate nL
--1,25 vit D decreased
--25 vita D nL
vitamin D dependent rickets
--calcium nL
--phosphate decreased
--1,25 vit D nL
--25 vita D nL
x-linked hypophosphatemia rickets
lead poisoning best initial test and accurate test
initial: capillary blood finger stick for lead level
accurate: serum venous blood leve
leading poisoning tx
1) mild: < 44 mcg/dL - lifestyle change
2) moderate 45-69 - oral succimer
3) severe > 70 - IV dimercaprol/BAL
most accurate test for osteogenesis imperfecta
skin biopsy
round central lucency with a sclerotic margin on x-ray
osteoid osteoma
osteoid osteoma tx
NSAID prn pain, condition will resolve
osteolytic lesion with 'soap bubble' appearance on x-ray
distal femur
Giant cell bone tumor
chorioretinitis, hydrocephalus, multiple ring enhacing lesions
toxoplasmosis
Dx and tx for congenital toxo
1) Dx: best initial elevated IgM to toxoplasma; most accurate PCR for toxo
2) Tx: pyrimethamine and sulfadiazine
rash on plasm and soles, snuffles, frontal bossing, Hutchinson teeth, 8th nerve palsy, saddle nose
Syphilis
Dx and tx for congenital syphilis
1) dx: best initial - VDRL or RPR; most accurate - FTA ABS or dark field
2) tx: PCN
PDA, cataracts, deafness, hepatospleno, thrombocytopenia, blueberry muffin, hyperbili
Rubella
dx and tx Rubella
1) dx maternal IgM status along with clinical dx
2) supportive
periventricular calcificaitons with microencephaly, choriorentinitis, hearing loss, petchiae
CMV
dx and tx CMV
1) dx: best initial urine or saliva viral titer; most accurate test is urine or saliva PCR for viral DNA
2) ganciclover
week 1: shock, DIC
week 2: vesciular skin lesion
week 3: encephalitis
herpes congenital
dx and tx for congenital herpes
1) dx: best intitial Tzanck smear; most accurate PCR
2) tx acyclovir
cough, coryza, conjunctivitis with Koplik spot
Robeola or measles
fever, pharyngitis, sandpaper rash over trunk and extremities, pastia lines, strawberry tongue, cervical LAD
scarlet fever
scarlet fever tx
PCN, azithro, or cephalosporin
Kawasaki Dz presentation
more than 5 days of fever
1) rash
2) mucositis
3) edema or erythema of hands and feet
4) cervical LAD
5) limbic-sparing bilateral conjunctivitis
tx of kawasaki dz
aspirin and IVIG
invasive infection of the external auditory canal and skull base due to Pseudomonas aeruginosa
malignant otitis externa
best initial test for malignant otitis externa
CT scan of skull base (biopsy is most accurate)
tx for malignant otitis externa
ceftazidime (NO topical)
Croup presentation
barking cough, coryza, inspiratory stridor, signs of hypoxia, CXR with steeple sign
Croup Tx
steroids and racemic epi
Epiglottitis presentation
history of vaccine deliquency
'hot potato' voice
fever
drooling in tripod position
refusal to lie flat
XRY with thumbprint sign
Epiglottits tx
intubate in OR
ceftriaxone
rifampin close contacts
Whooping cough presentation
1) catarrhal stage: 14 d congestion and rhinorrhea
2) paroxysmal: severe coughing, whooping inspiration, vomiting, burst blood vessels
3) convalescent stage: decrease frequency coughing
Whooping cough tx
erythromycin or azithro only works in catarrhal stage, macrolides for all close contacts
poor night vision, hypoparathyroidism
vitamin A def
beriberi, Wernicke's
vitamin B1 (thiamine)
angular cheilosis, stomatitis, glossitis
vitamin B2 (riboflavin)
pellagra (diarrhea, dermatitis, dementia, death)
vitamin B3 (niacin) def
burning feet syndrome (deficiency)
vitamin B5 (pantothenic)
glucose 6 phosphate def
ketotic hypoglycemia
hepatomegaly
Von Gierke
lysosomal acid maltase def
hypotonia (floppy baby)
hypertrophic cardiomyopathy
Pompe
debranching enzyme def
hepatomegaly
hypoglycemia
Cori
Glycogen branching enzyme deficiency
cirrhosis of liver and liver failure by age 2
Andersen
muscle phosphrylase deficiency
fatigability
limited physical activity
McArdle
cherry red macula, MR and DD, seizure, lysosomes with onionskin-whorled membranes
Tay-Sachs
Tay-Sachs
1) deficiency
2) accumulated substance
1) hexosaminidase A
2) ganglioside
hepatospleno, aspetic necrosis of femur, lytic lesions, macrophages that look like crumpled paper due to fibrillary cytoplasm
Gaucher
Gaucher
1) deficiency
2) accumulated substance
1) beta-glucocerebrosidase
2) glucocerebroside
optic atrophy, developmental delay, lysosomal storage disease
Krabbe disease
Krabbe
1) deficiency
2) accumulated substance
1) galactocerebrosidase
2) galactocerebroside
peripheral neruopathy, lysosomal storage disease
Fabry dz
Fabry
1) deficiency
2) accumulated substance
1) alpha-galactosidase A
2) ceramide trihexoside
cherry red macula, neurodegeneration, hepatosplenmegaly, foamy vacuolated macrophages in marrow
Neimann Pick
Neimann Pick
1) deficiency
2) accumulated substance
1) sphingomyelinase
2) sphingomyelin
lysosomal storage disease, demylination with ataxia and dementia
Metachromatic leukodystrophy
Metachromatic leukodystrophy
1) deficiency
2) accumulated substance
1) Arylsulfatase A
2) Cerebroside sulfate
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