Term
|
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
|
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 |
|
|
