title: A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate.
abstract: We report a family with six patients suffering from a sphingomyelinase-deficient form of Niemann-Pick disease, all presenting with a visceral course of the disease. Retinal changes classified as macular halos in four members indicated neuronal storage and therefore an intermediate type of the disease. For further classification of the biochemical type, [choline-methyl-14C]sphingomyelin degradation studies were carried out in fibroblast cultures of all six members. The low degradation rates measured were similar to those usually found in the neuronopathic form (type A) of Niemann-Pick disease. This family illustrates the broad heterogeneity within the sphingomyelinase deficiency group of the Niemann-Pick disease. Apparently the finding of a low sphingomyelin degradation rate in fibroblast cultures does not necessarily imply a typical serious and lethal course of the disease.
authors.affiliation: Department of Pediatrics, University of Innsbruck, Austria.
authors.forename: W
authors.initials: W
authors.lastname: Sperl
authors.forename: G
authors.initials: G
authors.lastname: Bart
authors.forename: M T
authors.initials: MT
authors.lastname: Vanier
authors.forename: H
authors.initials: H
authors.lastname: Christomanou
authors.forename: I
authors.initials: I
authors.lastname: Baldissera
authors.forename: E
authors.initials: E
authors.lastname: Steichen-Gersdorf
authors.forename: E
authors.initials: E
authors.lastname: Paschke
mesh_terms: D015415:Biomarkers; D002648:Child; D005260:Female; D005347:Fibroblasts / Q000201:enzymology / Q000378:metabolism; D006801:Humans; D007223:Infant; D008266:Macula Lutea; D008297:Male; D009542:Niemann-Pick Diseases / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D012164:Retinal Diseases / Q000201:enzymology / Q000235:genetics*; D012867:Skin / Q000201:enzymology / Q000378:metabolism; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency*; D013109:Sphingomyelins / Q000378:metabolism
chemical_list: D015415:Biomarkers; D013109:Sphingomyelins; D013108:Sphingomyelin Phosphodiesterase