A FAMILY WITH VISCERAL COURSE OF NIEMANN-PICK DISEASE, MACULAR HALO SYNDROME AND LOW SPHINGOMYELIN DEGRADATION RATE

We report a family with six patients suffering from a sphingomyelinase -deficient form of Niemann-Pick disease, all presenting with a viscera l course of the disease. Retinal changes classified as macular halos i n four members indicated neuronal storage and therefore an intermediat e type of the disease. For further classification of the biochemical t ype, choline-methyl-C-14sphingomyelin degradation studies were carri ed out in fibroblast cultures of all six members. The low degradation rates measured were similar to those usually found in the neuronopathi c form (type A) of Niemann-Pick disease. This family illustrates the b road heterogeneity within the sphingomyelinase deficiency group of the Niemann-Pick disease. Apparently the finding of a low sphingomyelin d egradation rate in fibroblast cultures does not necessarily imply a ty pical serious and lethal course of the disease.