Usuki F, Takenaga S, Higuchi I, Kashio N, Nakagawa M, Osame M
Third Department of Internal Medicine, Kagoshima University, School of Medicine, Japan.
J Neurol Sci. 1994 Dec 1;127(1):54-60. doi: 10.1016/0022-510x(94)90135-x.
A family is reported in which three members were affected by cardiomyopathy. Two members died unexpectedly in their second decade. Only a 23-year-old male suffered from the triad of clinical manifestations (cardiomyopathy, mental retardation and vacuolar myopathy). Morphologic findings and biochemical studies of his biopsied skeletal muscle and cultured fibroblasts confirmed lysosomal glycogen storage disease with normal acid maltase that was first described by Danon et al. In this study we demonstrated early morphologic changes, storage of glycogen and abnormal membranous structures in disorganized myofibers in biopsied skeletal muscle from the elder sister, who only showed cardiomyopathy clinically. 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.
据报道，有一个家族中有三名成员患有心肌病。两名成员在第二个十年意外死亡。只有一名23岁男性出现了三联征临床表现（心肌病、智力发育迟缓及空泡性肌病）。对其活检的骨骼肌和培养的成纤维细胞进行的形态学检查和生化研究证实为溶酶体糖原贮积病，酸性麦芽糖酶正常，这是Danon等人首次描述的。在本研究中，我们在仅临床上表现为心肌病的姐姐的活检骨骼肌中，证明了肌纤维紊乱中存在早期形态学改变、糖原蓄积及异常膜性结构。自噬体在培养的成纤维细胞中聚集明显，糖原含量增加。酸性α-葡萄糖苷酶活性高于正常。这是一种在男性和女性中表现不同的全身性贮积病。
