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.

Synonyms: Deficiency, Sphingomyelinase, Niemann-Pick Disease, Classical, Deficiencies, Sphingomyelinase, Sphingomyelin Lipidoses, Sphingomyelin Cholesterol Lipidoses, Niemann-Pick Disease, Acute Neuronopathic Form, Sphingomyelinase Deficiency Diseases, Sphingomyelinase Deficiencies, Sphingomyelin Cholesterol Lipidosis, Type A Niemann Pick Disease, Supraoptic Vertical Ophthalmoplegias, Niemann Pick Disease, Type A, Cholesterol Lipidoses, Neuronal, Sphingomyelin Lipidosis, Niemann-Pick's Disease Type A, Niemann Pick Disease, Acute Neurovisceral Form, Niemann Pick Disease, Neuronopathic Type, Cholesterol Lipidosis, Sphingomyelin, Niemann-Pick Disease, Neuronopathic Type, Supraoptic Vertical Ophthalmoplegia, Ophthalmoplegia, Supraoptic Vertical, Sphingomyelinase Deficiency Disease, Cholesterol Lipidosis, Neuronal, Cholesterol Lipidoses, Sphingomyelin, Classical Niemann-Pick Disease, Lipidoses, Sphingomyelin, Ophthalmoplegias, Supraoptic Vertical, Type A Niemann-Pick Disease, Sphingomyelinase Deficiency, Vertical Ophthalmoplegia, Supraoptic, Lipidosis, Sphingomyelin, Niemann-Pick Disease, Acute Neurovisceral Form, Lipidosis, Sphingomyelin Cholesterol, Niemann Pick's Disease Type A, Niemann-Pick Disease, Type A, Lipidoses, Neuronal Cholesterol, Neuronal Cholesterol Lipidoses, Niemann Pick Disease, Acute Neuronopathic Form, Vertical Ophthalmoplegias, Supraoptic, Lipidosis, Neuronal Cholesterol, Classical Niemann Pick Disease, Lipidoses, Sphingomyelin Cholesterol, Neuronal Cholesterol Lipidosis