title: [Ultrastructural study of the liver in Niemann-Pick disease type C].
abstract: The authors report an electron microscopic study of the liver in a case of Niemann-Pick disease type C. The diagnosis was supported by clinical data, moderate increase of phospholipids, total cholesterol, leukocytes and liver sphingomyelin and sphingomyelinase activity. Intrasinusoidal liver foamy histiocytes were filled with lamellar and multivesicular inclusions similar to those observed in sphingomyelinase deficient patients. Hepatocytes contained a few non-specific lamellar inclusions occasionally associated with triglycerides and cholesterol crystals. These results are discussed with reference to the recent biochemical findings supporting the evidence of excessive accumulation of unesterified cholesterol in Niemann-Pick disease type C.
authors.affiliation: Laboratoire d'Anatomie Pathologique, Faculté de Médecine, Marseille.
authors.forename: A
authors.initials: A
authors.lastname: Chamlian
authors.forename: L
authors.initials: L
authors.lastname: Benkoël
authors.forename: M J
authors.initials: MJ
authors.lastname: Payan
authors.forename: D
authors.initials: D
authors.lastname: Minko
authors.forename: L
authors.initials: L
authors.lastname: Xerri
authors.forename: R
authors.initials: R
authors.lastname: Choux
authors.forename: H
authors.initials: H
authors.lastname: Nouhou
mesh_terms: D006801:Humans; D007223:Infant; D008099:Liver / Q000201:enzymology / Q000473:pathology* / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D009542:Niemann-Pick Diseases / Q000201:enzymology / Q000473:pathology*; D013108:Sphingomyelin Phosphodiesterase / Q000032:analysis; D013109:Sphingomyelins / Q000032:analysis
chemical_list: D013109:Sphingomyelins; D013108:Sphingomyelin Phosphodiesterase
vernacular_title: Etude ultrastructurale du foie dans la maladie de Niemann-Pick de type C.