FUCOSIDOSIS WITH ANGIOKERATOMA - IMMUNOHI STOCHEMICAL AND ULTRASTRUCTURAL STUDIES

Introduction. Angiokeratoma can lead to diagnoses other than Fabry's d isease. We report a case of angiokeratoma in a child with fucosidosis. Case report. A 7-year-old child with psychomotor retardation presente d angiokeratomas located on the penis. Uptake of type I Ulex Europaeus Agglutinin antilectin antiserum was intense in the endothelial struct ures. This antibody is specific for alpha-L-fucose residues which were thus found in large quantities in the vacuoles of the ultrastructure. The patient also had a major deficiency in leukocyte, serum and fibro blast alpha-fucosidase. Comments. This is a typical case of fucosidosi s, a rare hereditary disease with autosomal recessive transmission due to generalized deficiency in alpha-L-fucosidase. Diffuse angiokeratos is should suggest, other than Fabry's disease, fucosidase and other en zyme deficiencies including sialidase, GM1 gangliosidase as well as Ka nzaki's disease.