peds105 Flashcards
niemann pick disease
sphingolipidosiss due to def in sphingomyelinase; sphingomyelin accumulates in the reticuloendothelial cells of liver, spleen, bone marrow, and brain
sphingolipidosis due to deficiency in hexosamindase A
tay sachs
hyperacusis, mental retardation, seizures, cherry red macula, but NO hepatosplenomegaly or cervical lymphadenopathy
tay sachs
sphingolipidosis due to def in glucocerebrosidase
gaucher’s disase
hepatosplenomegaly, anemia, leukopenia, and thrombocytopenia but NOT cherry red macula
gaucher’s disease
sphingolipidosis due to def in galactocerebrosidase
krabbe’s disease
hyperacusis, irritiability, and seizures
krabbe’s disease
coarse facial features, hydrocephalus and umbilica herna
mucopolysaccharidoses
neonate with hypocalcemic seizures
digeorge syndrome
esophageal atresia, congenital heart disease, anomalies of the great vessels, mandibular hypoplasia, and low set notched ears
di george
free air above the liver
intestinal perforaion
kawasaki criteria
fever at least 5 days plus four of the following: bilateral nonexudative conjunctivits, mucositis, cervical lymphadenopathy, erythematous polymorphous rash, extremty edema or erythema
mucositis in Kawasaki
injected or fissured lips, injected pharynx, or strawberry tongue
baseline echo should be performed on all patients with suspected KD
and repeated 6-8 weeks later to monitor for any changes
indomethacin
CLOSES the PDA
idiopthic osteonecrosis of the femoral head
legg-calve-perthes
mild chronic hep or knee pain of insidious onset as well as antalgic gait
legg-calve-perthes
LCP
internal rotation and abduction at the hip joint can become markedly limited
flattened and fragmented femoral head on xray
LCP
treatment for LCP
maintain the femoral head within the acetabulum via splintng or surgery
fair hair and skin, blue eyes, eczematous rash, urine has a mousy odor
PKU; guthrie test
treatment of PKU
low-phenylalanine diet, avoid high protein foods; if treated, patiens have normal mental development and life span
macrocytic anemia, low retics, and congenital anomalies
diamond-blackfan anemia
defect of erythroid progenitor cells which results in increased apoptosis
diamond blackfan anemia
therapy for diamond blackfan anemia
corticosteroids; transfusion for patients unresponsive to steroids
idiopathic aplastic anemia
pancytopenia; may be due to chemicals, drgs, infectious agens, or ionizing radiation
AR disorder characterized by progressive pancytopenia and macrocytosis
fanconi’s anemia
caf au lait spots, micocephaly, micropthalmia, short staurs, horseshoe kidneys and absent thumbs
fanconi anemia
short stature,webbed neck, cleft lib, shielded chest, and triphalangeal thumbs
diamond blackfan syndrome
panner disease
osteochondrosis of the capitellum of the elbow; happens with too much throwing; treat symptomatically
