9 Jan 1930 Jahr - Niemann-Pick disease
Beschreibung:
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
Zugefügt zum Band der Zeit:
Datum: