Kashio N, Usuki F, Akamine T, Nakagawa S, Higuchi I, Nakahara K, Okada A, Osame M, Murata F
Department of Neurology, Miyazaki Prefectural Hospital, Japan.
J Neurol Sci. 1991 Sep;105(1):1-5. doi: 10.1016/0022-510x(91)90109-k.
A 21-year-old man with childhood-onset mental retardation, non-obstructive hypertrophic cardiomyopathy, and vacuolar myopathy is presented. A histopathological study of biopsied skeletal muscle showed lysosomal glycogen storage mimicking acid maltase deficiency, but biochemical analysis showed normal acid alpha-glucosidase activity. Glycogenosomes were also recognized in endothelial cells on electronmicroscopic examination of biopsied skeletal muscle. Magnetic resonance imaging (MRI) findings in the head revealed the involvement of the central nervous system. This is a new type of lysosomal glycogen storage disease with multisystemic involvement. The specific biochemical defect in this disorder remains to be elucidated.
本文报道了一名21岁男性，患有儿童期起病的智力发育迟缓、非梗阻性肥厚型心肌病和空泡性肌病。对活检骨骼肌的组织病理学研究显示，溶酶体糖原贮积类似于酸性麦芽糖酶缺乏，但生化分析显示酸性α-葡萄糖苷酶活性正常。在对活检骨骼肌进行电子显微镜检查时，在内皮细胞中也发现了糖原小体。头部磁共振成像（MRI）结果显示中枢神经系统受累。这是一种新型的溶酶体糖原贮积病，累及多个系统。该疾病的具体生化缺陷仍有待阐明。
