Tachi N, Tachi M, Sasaki K, Tomita H, Wakai S, Annaka S, Minami R, Tsurui S, Sugie H
Department of Pediatrics; Sapporo Medical College, Japan.
Pediatr Neurol. 1989 Jan-Feb;5(1):60-3. doi: 10.1016/0887-8994(89)90012-x.
We report a 5-year-old boy with lysosomal glycogen storage disease and normal acid maltase activity. This patient, the fourth reported in the literature, was referred to our hospital for evaluation of elevated serum GOT, GPT, and CK activities. He had neither muscle weakness nor atrophy. Echocardiography demonstrated marked thickening of the intraventricular septum and left ventricular wall which indicated hypertrophic cardiomyopathy. Biopsied skeletal muscle disclosed massive accumulation of glycogen and autophagic vacuoles. Electron microscopy of biopsied cardiac muscle revealed severe myofibrillar disruption with marked accumulation of free and intralysosomal glycogen. Activities of all major glycolytic enzymes in skeletal muscle, including acid maltase, were normal. It is unknown why muscle lysosomes appeared to be unable to digest the trapped glycogen despite the presence of acid maltase. Our findings illustrate the importance of performing skeletal muscle investigation during childhood in patients with hypertrophic cardiomyopathy.
我们报告了一名患有溶酶体糖原贮积病但酸性麦芽糖酶活性正常的5岁男孩。该患者是文献报道的第四例，因血清谷草转氨酶、谷丙转氨酶和肌酸激酶活性升高而转诊至我院。他既没有肌肉无力也没有萎缩。超声心动图显示室间隔和左心室壁明显增厚，提示肥厚型心肌病。活检的骨骼肌显示糖原和自噬空泡大量积聚。活检心肌的电子显微镜检查显示严重的肌原纤维破坏，伴有游离和溶酶体内糖原的明显积聚。包括酸性麦芽糖酶在内的骨骼肌中所有主要糖酵解酶的活性均正常。尽管存在酸性麦芽糖酶，但肌肉溶酶体为何似乎无法消化被困的糖原尚不清楚。我们的研究结果说明了对肥厚型心肌病患儿进行骨骼肌检查的重要性。
