title: [Clinical and histoenzymological peculiarities of cholesterol storage in 2 children of the same family].
abstract: Two sisters, aged 6 and 9 years, presented with similar episodes of acute illness. Clinical, biological, pathological, ultrastructural, histochemical and biochemical investigations led to a diagnosis of cholesterol ester storage disease. The two have been followed for 7 years and during that time a number of features atypical of cholesterol ester storage disease have been observed. Severe jaundice, advanced fibrosis and decreased liver glycogen stored. Examination of liver and cultured fibroblasts showed excess esterified cholesterol storage and acid lipase deficiency as seen in Wolman disease.
mesh_terms: D002648:Child; D002788:Cholesterol Esters / Q000378:metabolism*; D005260:Female; D005347:Fibroblasts / Q000032:analysis; D005500:Follow-Up Studies; D006651:Histocytochemistry; D006801:Humans; D008049:Lipase / Q000172:deficiency; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D008099:Liver / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure; D008107:Liver Diseases / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*
chemical_list: D002788:Cholesterol Esters; D008049:Lipase
vernacular_title: Particularités cliniques et histoenzymologiques de la polycorie cholestérolique chez deux enfants d'une même fratrie.