Niemann-Pick disease

Niemann-Pick disease A group of inherited biochemical disorders in which lipid (fat) accumulates in the spleen, liver, lungs, bone marrow, and the brain. Symptoms may include lack of muscle coordination, brain degeneration, learning problems, loss of muscle tone, increased sensitivity to touch, spasticity, feeding and swallowing difficulties, slurred speech, and an enlarged liver and spleen. Niemann-Pick disease is inherited in an autosomal recessive manner. The classical form of the disease has its onset in very early infancy, and death usually occurs before age 3. Growth is retarded. Other features are jaundice, hepatic (liver) failure, and ascites (fluid in the abdomen). Eye hallmarks include a “cherry red spot” in the macula in the center of the retina and cloudy cornea. In the classic form, accumulation of a substance called sphingomyelin is due to deficiency of the enzyme sphingomyelinase.