Histomorphologic and histochemical investigations in mannosidosis. A light and electron microscopic study.
Morphologic and histochemical studies have been performed at light and electron microscopic level on needle-liver biopsy specimens, circulating blood lymphocytes and fibroblast cultures from patients with mannosidosis. The findings demonstrated generalized storage phenomena of varying degrees in the various tissues examined. Histochemical findings were in agreement with the biochemical nature of the stored material. Enzyme histochemical methods indicated storage in the lysosomes, at least in the hepatocytes. The ultrastructural appearance of mannosidosis in itself has but a limited diagnostic significance since the morphology and distribution of vacuoles have characteristics in common with other storage diseases. Repeated liver biopsy disclosed extensive storage in the hepatic tissue. However, the progression of the disease was not accompanied by severe mechanical destruction or microcirculatory disturbances.
D001707:Biopsy, Needle; D002239:Carbohydrate Metabolism, Inborn Errors / Q000473:pathology*; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D006801:Humans; D008099:Liver / Q000473:pathology; D008214:Lymphocytes / Q000473:pathology; D008247:Lysosomes; D008358:Mannose / Q000378:metabolism*; D008361:Mannosidases / Q000172:deficiency*; D008854:Microscopy, Electron; D014617:Vacuoles
D008361:Mannosidases; D008358:Mannose