An autopsy case of Fabry's disease with cardiac manifestations.

Abstract

We report an autopsy case of Fabry's disease with cardiac manifestations. Electron microscopic examination of rectal biopsy specimens revealed lamellar bodies and osmiophilic irregular bodies. Biochemical analysis showed low enzymatic activity of alpha-galactosidase A in plasma fluid. Microscopic examination on autopsy showed marked hypertrophy and vacuolation of cardiac muscle cells. Intracytoplasmic vacuolation was also found in glomerular epithelial or endothelial cells and smooth muscle cells of renal arteries, Meissner's plexus in the submucosa of small and large intestines, and smooth muscle cells of arterioles in the cerebrum. The diagnosis of Fabry's disease was made. The patient died suddenly of cardiomyopathy.