shelf Flashcards
(57 cards)
heart murmur: especially school age kids, located neck below the clavicles; continuous murmur, heard only sitting or standing; disappears if supine
venous hum
heart murmur: age 2-7 yrs; located in mid-left sternal border; systolic, vibratory or twanging, loudest supine, louder with exercise
still’s murmur
name the disease: red cell aplasia that presents as anemia within first year of life (RAPID ONSET), may have TRIPHALANGEAL THUMBS; can treat with corticosteroids (~70% respond)
blackfan-diamond syndrome
name the disease: pancytopenia that is AR, onset of bone marrow failure is mean age of 7 yrs; typically presents with ecchymosis and petechiae; skeletal abnormalities include short stature and absence of the THUMB AND RADIUS
fanconi anemia
name the disease: AR with thrombocytopenia and limb abnormalities (THUMB IS PRESENT), associated with TOF & ASD
thrombocytopenia absent radius syndrome (TAR)
Name disease: presents with loss of motor milestones, increased startle, cherry red macula, no organomegaly, hyperreflexia
Tay Sachs (hexosaminidase A deficiency)
name the disease: presents by 6 months of age with loss of motor milestones, ataxia, seizures, hepatosplenomegaly, cherry-red macula and areflexia
Niemann-Pick disease (sphingomyelinase deficiency)
name the disease: has hepatosplenomegaly, erlenmeyer flask shape to distal femur, thrombocytopenia, early mortality by age 4 yrs
Gaucher’s disease (glucocerebrosidase deficiency)
name the disease: has onset b/w 1 and 2 yrs of age and is notable for progressive ataxia, weakness and peripheral neuropathy
metachromatic leukodystrophy (arylsulfatase A deficiency)
name the disease: peripheral neuropathy, developmental delay, optic atrophy, globoid cells
Krabbe disease (galactocerebrosidase deficiency)
name the disease: peripheral neuropathy of hands/feet, angiokeratomas, CV/renal disease, x-linked recessive
Fabry disease (alpha-galctosidase A deficiency)
name the disease: beginning after 1 yr of age, baby as developmental delay, hepatosplenomegaly, kyphosis, progressively coarsened facial features, corneal clouding, progressively stiff joints
Hurler syndrome (alphal-iduronidase aka lysosomal hydrolase deficiency)
name the disease: mild hurler + aggressive behavior no corneal clouding, iduronate sulfatase deficiency, X-linked recessive
hunter syndrome (iduronate sulfatase deficiency)
name the disease: presents at 3-4 months of age with hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia, doll-like face, thin extremities, protuberant abdomen
Von Gierke’s disease (GSD type 1 aka glucose-6-phosphatase deficency)
name the disease: infant presenting in first 2 weeks of life with flaccid weakness, poor feeding, progressive cardiomegaly, hepatomegaly, macroglossia, acidosis
Pompe’s disease (GSD type 2 aka acid maltase deficiency aka alpha-1,4-glucosidase)
“pompe trashes the pump (heart, liver and muscle)
name disease: hepatomegaly, hypoglycemia, hyperlipidemia, growth retardation, elevated liver enzymes, fasting ketosis, normal blood lactate and uric acid concentrations
Cori disease aka glycogen debranching enzyme deficiency (GSD type 3)
mnemonic for Glycogen storage diseases
Very Poor Carbohydrate Metabolism
Von gierke type 1
Pompe type II
Cori type III
mcardle type V
gross motor milestone 2 months
lifts head/chest in prone position
fine motor milestone 2 months
hands unfisted 50% of time, tracks past midline
language milestone 2 months
alerts to voice/sound, coos
social/cognitive milestone 2 months
social smile, recognizes parents
gross motor milestone 4 months
rolls over, sits with trunk support
fine motor milestone 4 months
hands mostly open, reaches midline
language milestone 4 months
laughs, turns to voice
