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8
Medical
Undergraduate 2
05/26/2012

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Cards

Term
Fabry's disease
findings
Definition
Peripheral neuropathy
angiokeratomas
renal/cardio disease
Term
Gaucher's disease
findings
Definition
Hepatosplenomegaly
aseptic necrosis of femur and bone crises
macrophages that look like crumpled paper
Term
Niemann-Pick disease
findings
Definition
Progressive neurodegeneration
hepatosplenomegaly
cherry-red macula
foam cells
Term
Tay-sachs disease
findings
Definition
Progressive neurodegeneration/developmental delay
cherry red macula
lysosomes with onion skin
eye twitches
startle reflex
Term
Krabbe's disease
findings
Definition
Peripheral neuropathy
developmental delay
optic atrophy
globoid cells
Term
Metachromatic leukodystrophy
findings
Definition
Central and peripheral demyelination with ataxia, dementia, incontinence
sparing of subcortical U fibers
Term
Hurler's syndrome
findings
Definition
Developmental delay
gargoylism
airway obstruction
corneal clouding
hepatosplenomegaly
Term
Hunter's syndrome
findings
Definition
Developmental delay
gargoylsm
airway obstruction
hepatosplenomegaly
aggression
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