RESUMEN
Fabry's disease is a rare hereditary metabolic disease caused by alpha-galactosidase deficiency, resulting in abnormal accumulation of galactosyl galactosyl galactosyl ceramide (ceramide trihexoside) in various organs. Articles in English reported approximately one hundred cases but only two cases in Korea. Recently the authors experienced a case of Fabry's disease of a male patient and studied the electronmicroscopy on skin biopsied tissue and enzyme assay of alpha -galactosidase activity in his peripheral blood leukocytes. The male patient was a 21-year-old soldier who suffered from anhidrosis with heat intolerance and generalized telangietatic papules (Angiokeratoma corporis diffusum) since childhood. Other clinical findings were ocular change, paroxysmal pain of lower extremities and proteinuria with oval fat bodies on urinalysis. The ultrastructural study of skin demonstrated abnormal lysosomal deposits of finger-prints or "zebra" body configuration in the endothelial cells, pericytes, perineural cells and intercalated ductal epithelium of sweat glands. Enzyme activity of alpha-galactosidase was markedly decreased in the peripheral blood leukocytes comparing to the normal control, which was conclusive to make a diagnosis of Fabry's disease.
Asunto(s)
Niño , Masculino , Femenino , HumanosRESUMEN
Fabry's disease is a rare hereditary metabolic disease caused by alpha-galactosidase deficiency, resulting in abnormal accumulation of galactosyl galactosyl galactosyl ceramide (ceramide trihexoside) in various organs. Articles in English reported approximately one hundred cases but only two cases in Korea. Recently the authors experienced a case of Fabry's disease of a male patient and studied the electronmicroscopy on skin biopsied tissue and enzyme assay of alpha -galactosidase activity in his peripheral blood leukocytes. The male patient was a 21-year-old soldier who suffered from anhidrosis with heat intolerance and generalized telangietatic papules (Angiokeratoma corporis diffusum) since childhood. Other clinical findings were ocular change, paroxysmal pain of lower extremities and proteinuria with oval fat bodies on urinalysis. The ultrastructural study of skin demonstrated abnormal lysosomal deposits of finger-prints or "zebra" body configuration in the endothelial cells, pericytes, perineural cells and intercalated ductal epithelium of sweat glands. Enzyme activity of alpha-galactosidase was markedly decreased in the peripheral blood leukocytes comparing to the normal control, which was conclusive to make a diagnosis of Fabry's disease.