Sos- Leukodystrophy Flashcards
Subset of genetic diseases affecting the nervous system of children normal at birth but miss developmental milestones
genetic metabolic disorders
lysosomal storage disease w/ mutated hexosaminidase A
accumulation of gangliosides
Tay-Sachs
Failure to thrive; UMN signs; then seizures
cherry red spot on macula and NO hepatosplenomegaly
Tay-Sachs
Tay-Sachs
foamy cytoplasm of neurons (eventually neurons die)
Tay-Sachs
Rare genetic diseases that cause an abnormal development and/or progressive loss of central nervous system white matter and storage
Leukodystrophy
deficiency: alpha-galactosidase A
accumulation: ceramide trihexoside
Fabry disease
deficiency: glucocerebrosidase
accumulation: glucocerebroside
Gaucher disease
deficiency: Arylsulfatase A
accumulation: sulfatides
Metachromatic leukodystrophy
deficiency: galactocerebrosidase
accumulation: galactocerebroside
Krabbe disease
deficiency: sphingomyelinase
accumulation: sphingomyelin
Niemann-Pick
cherry red spot on macula and hepatosplenomegaly
Niemann-Pick
w/ accumulation of galactocerebroside in lysosomes
Krabbe disease
w/ accumulation of galactocerebroside in lysosomes
Krabbe
when you use different stains on tissue it turns white matter purple
Deficiency: arylsulfatase
Accumulation: cerebroside sulfate
Metachromatic leukodystrophy
white matter destruction shown as white on T2
missing mile stones
deficient in arylsulfatase
metachromatic leukodystrophy
metachromatic leukodystrophy
Inability to catabolize very-long-chain fatty acids within peroxisomes
Adrenal insufficiency
Childhood to adult types
Adrenoleukodystrophy
symmetrical loss in one set of lobes
Adrenoleukodystrophy
Stroke-like episodes
Young adults
Mitochondria
Muscles affected
Lactic acid accumulation; GI issues
MELAS
vascular territories affected
lactic acid accumulation
MELAS
