Glycogenosis type II (Pompe). The fourth autopsy case in Japan.

Abstract

An autopsy case of glycogenosis type II (Pompe's disease) was reported. The case is that of the fourth autopsy of this type of glycogen storage disease, caused by acid maltase (α‐1, 4‐glucosidase) deficiency, in Japan. In addition to routine histopathological studies on skeletal muscle biopsy and autopsy, also were employed biochemical analyses of the enzyme activities in peripheral white blood cells and skeletal muscle, scoring method of a PAS‐positlve granule In circulating lymphocytes, and electron microscopic studies on muscle biopsy specimen, and cardiac muscle and liver obtained at autopsy. Cardiomegaly is one of the most significant clinical signs of the disease and biochemical measurement of the enzyme activity in cells or tissues is clinically of most diagnostic value. Gytological study by scoring PAS‐posltive granules in circulating lymphocytes is also of great value and is a simple method for aid in establishing a clinical diagnosis. Special attention should be paid to this case on the point of a tendency of thrombus formation and peripheral vascular disorder as complications of the disease, which caused aneurysm and thrombosis of the meningeal arteries and renal infarction, possibly due to degenerative process in the vascular medial smooth muscle cells by excessive deposition of glycogen.