Definition: The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.
Other names Niemann Pick Disease, Acute Neurovisceral Form; Niemann Pick Disease, Acute Neuronopathic Form; Classical Niemann Pick Disease; Type A Niemann-Pick Disease; Niemann-Pick's Disease Type A; Niemann-Pick Disease, Neuronopathic Type; Niemann-Pick Disease, Acute Neurovisceral Form; Niemann-Pick Disease, Acute Neuronopathic Form; Classical Niemann-Pick Disease; Type A Niemann Pick Disease; Sphingomyelinase Deficiency Diseases; Niemann-Pick Disease, Classical; Niemann Pick's Disease Type A; Niemann Pick Disease, Type A; Niemann Pick Disease, Neuronopathic Type; Sphingomyelinase Deficiency Disease
