[An autopsied case of Fabry's disease presenting with parkinsonism and cardiomegaly as a cardinal clinical manifestation].

A 68-year-old male had been followed up under a clinical diagnosis of parkinsonism for 5 years. He was admitted to the Kanto Teishin Hospital with a chief complaint of difficulty in swallowing. Physical findings were almost normal. Neurological examination showed parkinsonism including mask-like face, positive Myerson's sign, mild rigidity, marche à petit pas, and retropulsion, and pyramidal signs including mild right hemiparesis, generalized hyperreflexia and positive Babinski's sign on both sides. Routine blood analysis was normal, except for elevated LDH level. He was found to have cardiac enlargement (CTR 58.7%) in chest roentogenogram, left ventricular hypertrophy (LVH), right bundle branch block and myocardial ischemia in electrocardiogram, as well as LVH, asymmetrical septal hypertrophy, mild MR and AR in echocardiogram. A T2 weighted brain MRI disclosed multiple high signal intensities in the basal ganglia and deep white matter regions which suggest parkinsonism resulting from multiple cerebral infarctions. An upper gastrointestinal endoscopic examination revealed esophageal and gastric carcinomas. He died of ventricular fibrillation 14 days after an operation of these carcinomas. Autopsy showed severe cardiomegaly (800 g) and vacuolar change of myocardium with lamellar body on electron microscopic examination. A definite biochemical diagnosis of Fabry's disease was made by demonstration of deposition of a large amount of trihexosylceramide in the myocardium, kidney, and liver. This case presented parkinsonism and cardiomegaly without typical signs of Fabry's disease. Therefore, Fabry's disease should be considered as one of possible underlying diseases, when a patient has cardiomegaly or ischemic cerebrovascular disease without risk factors, even if he has no typical signs of Fabry's disease.