Contributor: Gordon K. Klintworth
Niemann-Pick disease type IIA is an acute infantile variant of Niemann-Pick disease type II. Affected individuals develop hepatosplenomegaly during infancy, and psychomotor disturbances begin a few years later. In this variant of Niemann-Pick disease death, usually from a respiratory infection, occurs before reaching 10 years of age. Several lipids (including sphingomyelin, other glycolipids, and cholesterol) are stored in the spleen and liver. This inherited sphinomyelin storage diseases has an uncertain primary defect, but sphingomyelinase activity is often normal.