Les formes psychiatriques de la maladie de Niemann-Pick de type C

Niemann-Pick type C disease diagnosed in adult neurology departments may be infantile or juvenile forms with prolongated life spans or forms starting at adolescence or adulthood. Psychomotor retardation is practically constant. In some cases, a psychosis may be the only manifestation for several years. The diagnosis is often made when extrapyramidal symptoms appear as well as cerebellar ataxia and ophtalmoplegia in the vertical gaze. The treatment with psychotropic drugs raises the question of a superimposition of a drug induced lipidosis. Hepatosplenomegaly is often discrete contrary to classical infantile cases. Foam cells as well as sea blue histiocytes are features of the disease. The filipin test evidences the lysosomal storage of cholesterol.