Niemann-Pick Disease

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia.

**Synonyms:** - Sphingomyelin/Cholesterol Lipidosis