Type C Niemann-Pick disease: clinical and biochemical studies on 6 cases

Clinical and biochemical studies were performed on 6 cases of type C Niemann-Pick disease. Neurological symptoms started in early infancy in 3 cases, and in childhood in the other 3 cases. However, no clear discriminations were possible with regard to neurological and general somatic manifestations between these two groups. All patients showed normal or slightly low sphingomyelinase and beta-glucosidase activities in fibroblasts, and a defect of esterification of exogenous cholesterol. The extent of these abnormalities was not correlated with the clinical course or severity of this disease.