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40 Cards in this Set

  • Front
  • Back
What maternal infection is PDA associated with?
– rubella
Coarct Exam
– late systolic murmur in left axilla
– apical impulse is forceful
– treat recurrence w/ balloon
Which part of DTAP causes problems
– pertussis
– you can leave that out for next vaccine
HBV vaccine
– birth, 2 m, 6 m
Dtap vaccine
– 2, 4, 6 months
– 18 months
– 5 years
Hib vaccine
– 2,4,6 months
– 15 months – this is the same for PPV
IPV vaccine
– 2,4,6 months
– 5 years
MMR and Varicella vaccine
– 15 months
– repeat MMR at 5 years
Fabry’s disease
– lysosomal storage
– deficiency of a-galactosidase A
– accumulation of ceramide trixidose
– the only one that’s x-linked besides Hunters
– get renal failure
Krabbe’s disease
– lysosomal storage aka GM1
– deficiency of galactosylceramide B-galactoside
– accumulation of galactocerebroside
– get optic atrophy, vertebral beaking, spacity, and die early
Gaucher’s disease
– lysosomal storage
– deficiency of B-glucocerebroside
– glucocerebroside accumulated in brain, liver, spleen and marrow to make Gauchers cells
– normal life span
– erlynmeyer flask bones
Tay Sachs disease
– lysosomal storage
– deficiency of Hexosaminidase A
– accumulation of GM2 ganglioside (as does Sandhoff’s)
– death by 3
– big in jews
Metachromatic leukodystrophy
– lysosomal storage
– deficiency of Arylsulfatase A
– accumulation of sulfatide
– gets brain, kidney, liver, and peripheral nerves
Hunter’s vs. Hurlers
– lysosomal storage
– deficiency of A-L-iduronidase vs. iduronate sulfatase
Common variable immunodeficiency
– associated w/ lymphoma and autoimmune disease
– Ig drops to 20s and 30s and all but A are low
– tend to present later than Brutons
Ataxia telangectasia
– Combined immunodeficiency from DNA repair defect
– associated w/ non hodgkins and gastric carcinoma
– No tx
Wiskott-Aldrich
– Combined immunodeficiency
– increased E and A and decreased M
– associated w/ atopy and leukemia
Chronic granulomatous disease
– get anemia, LA, and hypergammagolublinemia
– Nitroblue tetrazolium Dx
– Tx w/ daily TMP-SMX and IFN-a
Chediak higashi
– associated w/ occulocutaneous albinism, neuropathy, neutropenia
– tx w/ BMT
C1esterase deficiency dx and tx
– CH50
– danzol
Terminal compliment deficiency
– meningococcal and gonococcal
– lupus and glomerulonephritis
Subacute phase of Kawasake
– increase ESR and thrombocytosis
When are corticosteroids contraindicated
– Kawasakis and SJS
Roseloa Rash
– from HHV-6
– starts on trunk and quickly spreads to face and extremities
– associated w/ febrile seizures
Kernicterius Hx
– high pitched cry, hypertonicity, seizures
How do you treat CP spaticity?
– diazepam, dantrolene, or baclofen pump
Neuroblastoma associations
– Hirschprungs, neurofibromatosis, N-myc
– kids less than 2
Neuroblastoma history/exam
– Horners syndrome
– Opsoclonus/myoclonus
– raccoon eyes
– subcutaneous tumor nodules
– it likes to hemorrhage and calcify
Which Ab’s are specific for Lupus
– anti smith and anti ds-DNA
Cru-du-chat
– 5p deletion
– microcephaly, hypotonia, short stature
What should you give an atopic asthmatic?
– mast cell stabilizer
– aka sodium cromolyn
Chlamydia blindness exam
– lymphoid follicles on conjunctiva
– scarring and limbal follicles
Von Gierke’s
– G6P deficiency (type1) presents at 3-4 months
– hypoglycemia, lactic acidosis
– increased uric acid and lipids
– doll face w/ protuberant abdomen and thin arms
Pompe’s
– Acid maltace deficiency (type 2) present is 1st weeks
– floppy baby w/ big tounge
– feeding difficulties and hypertrophy CM
Type 3 GSD
– deficiency of glycogen debranching enzyme
– clinically like type 1 but normal lactate and uric acid
– increased LFTs
– fasting ketosis
Type 4 GSD
– deficiency of branching enzyme
– 18 months w/ FFT and HSM
TCA overdose treatment
– sodium barcarb will treat the acidosis and narrow the QRS
Most common pediatric brain tumor
– benign astrocytoma (supra and infra)
– then medulo
Gastroschisis 1st step
– wrap up exposed bowel
Faber’s disease
– ceramidase deficiency -> accumulation in joints