MORPHOLOGIC FINDINGS IN BIOPSIED SKELETAL-MUSCLE AND CULTURED FIBROBLASTS FROM A FEMALE-PATIENT WITH DANONS DISEASE (LYSOSOMAL GLYCOGEN-STORAGE-DISEASE WITHOUT ACID MALTASE DEFICIENCY)

A family is reported in which three members were affected by cardiomyo pathy. Two members died unexpectedly in their second decade. Only a 23 -year-old male suffered from the triad of clinical manifestations (car diomyopathy, mental retardation and vacuolar myopathy). Morphologic fi ndings and biochemical studies of his biopsied skeletal muscle and cul tured fibroblasts confirmed lysosomal glycogen storage disease with no rmal acid maltase that was first described by Danon et al. In this stu dy we demonstrated early morphologic changes, storage of glycogen and abnormal membranous structures in disorganized myofibers in biopsied s keletal muscle from the elder sister, who only showed cardiomyopathy c linically. The aggregation of autophagosomes was prominent in cultured fibroblasts, with an increased glycogen content. The activity of acid alpha-glucosidase was higher than normal. This is a systemic storage disease with different expression in males and females.