Fucosidosis: ultrastructural study of conjunctiva and skin and enzyme analysis of tears.
Conjunctival and skin biopsies from two new patients with fucosidosis were studied by electron microscopy. In both tissues, the connective tissue cells and the capillary endothelial cells were filled with single membrane limited inclusions of two types: (1) Clear inclusions containing a fibrillogranular reticulum. (2) Dark inclusions with a dense granular material. Specific stainings in ultrastructure suggest that these inclusions contain oligosaccharide chains. The ultrastructural aspect is characteristic for fucosidosis. Enzyme studies on tears realized an easy and secure technique for the diagnosis of the disease.
D001706:Biopsy; D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology / Q000473:pathology*; D002675:Child, Preschool; D003228:Conjunctiva / Q000648:ultrastructure*; D004186:Disaccharidases / Q000032:analysis*; D005260:Female; D005643:Fucose / Q000378:metabolism*; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008854:Microscopy, Electron; D012867:Skin / Q000473:pathology*; D013666:Tears / Q000201:enzymology*; D005644:alpha-L-Fucosidase / Q000032:analysis*
D005643:Fucose; D004186:Disaccharidases; D005644:alpha-L-Fucosidase