FABRYS-DISEASE PRESENTING AS SYNCOPE, ANGIOKERATOMAS, AND SPOKE-LIKE CATARACTS IN A YOUNG MAN - DISCUSSION OF THE DIFFERENTIAL-DIAGNOSIS

A 44-year-old male with a remote history of skin lesions and cataracts presented with subacute onset of syncope, The presentation and the di fferential diagnosis in this case of Fabry's disease are discussed, Th e pathophysiology, diagnosis, clinical manifestations, and treatment o f this disorder are discussed, with a review of the literature. Fludro cortisone acetate therapy resulted in a reduction in the patient's syn copal event frequency, Serum enzymatic assay and skin biopsy are usefu l in the diagnosis of Fabry's disease. We advocate a conservative appr oach to the oculocutaneous symptoms and suggest appropriate interventi ons for the renovascular and autonomic nervous system complications of this disorder.