9 janv. 1930 - Niemann-Pick disease

Description:

collection of a number of distinct autosomal recessive lysosomal storage diseases.
deficiency of acid sphingomyelinase 1
Niemann-Pick disease type A (NPA)
severe hepatosplenomegaly in infancy
severe central nervous system involvement, with atrophy or white matter T2 signal increase on MRI 1
usually succumb to the disease by 2 years of age 1
Niemann-Pick disease type B (NPB)
hepatosplenomegaly
no CNS involvement
variable age of onset and prognosis 1
impaired intracellular cholesterol trafficking 1
Niemann-Pick disease type C (NPC)
pronounced CNS involvement with atrophy or white matter T2 signal increase on MRI 1
mild hepatosplenomegaly
Niemann-Pick disease type D (NPD)
Nova Scotian ancestry 1

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