Visceral manifestations of glycosphingolipidosis (Fabry's disease)

Fabry's disease is glycolipid sphingolipidosis which belongs to the group of lipid storage diseases and has as its underlying cause congenital deficiency of alpha-galactosidase. The pathologic anatomy of visceral lesions is described at the macroscopic, light-optical, and electron-microscopic l...

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Bibliographic Details
Published inArkhiv patologii Vol. 49; no. 6; p. 58
Main Authors Zaĭrat'iants, O V, Bruk, E I, Berestova, A V, Mendel'son, M M
Format Journal Article
LanguageRussian
Published Russia (Federation) 1987
Subjects
Chronic Disease
Fabry Disease - complications
Fabry Disease - metabolism
Fabry Disease - pathology
Glycosphingolipids - metabolism
Histocytochemistry
Humans
Kidney - metabolism
Kidney - pathology
Male
Middle Aged
Myocardium - metabolism
Myocardium - pathology
Skin - pathology
Viscera - metabolism
Viscera - pathology
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Summary:Fabry's disease is glycolipid sphingolipidosis which belongs to the group of lipid storage diseases and has as its underlying cause congenital deficiency of alpha-galactosidase. The pathologic anatomy of visceral lesions is described at the macroscopic, light-optical, and electron-microscopic levels in a 50-year-old male with striking systemic manifestations of Fabry's disease. In addition to lesions typical for glycolipid sphingolipidosis, atherosclerosis involving primarily heart arteries (which is not characteristic for this disease) was found in the patient. This case demonstrates that although cutaneous lesions underlie the traditional designation of Fabry's disease as angiokeratoma corporis diffusum, skin involvement is only one of its external signs.
ISSN:0004-1955