[Adult Niemann-Pick disease: a 26 years follow-up. Report of a case with isolated visceral involvement, excess of tissue sphingomyelin, and deficient sphingomyelinase activity (author's transl)].
The case report of Niemann-Pick disease, in a 26 years old woman whose first symptoms appeared when she was 17 months old, is described. The disease, involving considerable hepatosplenomegaly and pulmonary infiltration, was diagnosed by the presence of lipid laden macrophages (resembling foam cells, sea blue histiocytes and kidney intermediate forms) in the bone marrow, liver and kidney, and an excess of tissue sphingomyelin and cholesterol, and a decrease in sphingomyelinase in circulating leucocytes. The results of ultrastructural, histochemical and biochemical studies on hepatic and renal lipids are reported. The relationship of the case to the sea blue histiocyte syndrome is discussed.
D000328:Adult; D001854:Bone Marrow Cells; D002784:Cholesterol / Q000032:analysis; D005260:Female; D006529:Hepatomegaly / Q000209:etiology; D006644:Histiocytes; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology / Q000648:ultrastructure; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000473:pathology / Q000648:ultrastructure; D009542:Niemann-Pick Diseases / Q000473:pathology*; D010727:Phosphoric Diester Hydrolases / Q000097:blood*; D018805:Sepsis / Q000382:microbiology; D013108:Sphingomyelin Phosphodiesterase / Q000097:blood*; D013109:Sphingomyelins / Q000032:analysis*; D013163:Splenomegaly / Q000209:etiology; D013203:Staphylococcal Infections / Q000209:etiology
D013109:Sphingomyelins; D002784:Cholesterol; D010727:Phosphoric Diester Hydrolases; D013108:Sphingomyelin Phosphodiesterase
Maladie de Niemann-Pick de l'adulte suivie de la naissance a l'age de 26 ans. Forme viscérale pure avec surcharge en sphingomyéline et déficit en sphingomyélinase