Gullotta F, Stefan H, Mattern H
J Neurol. 1976;213(3):199-216. doi: 10.1007/BF00312870.
A 40-year-old man suffered for 5 years from a progressive proximal myopathy mimicking an atypical limb-girdle dystrophy. A "myopathic" pattern with myotonic and pseudomyotonic discharges was determined by electromyography. Enzyme histochemical and ultrastructural investigations of muscle and liver biopsies pointed to a glycogenosis. Biochemical investigations of muscle and liver samples confirmed this diagnosis, disclosing an acid maltase deficiency. Glycogen filled lysosomes were also revealed electron optically in skin fibroblasts but not in white blood cells. The literature concerning the late onset forms of acid maltase deficiency (type II glycogenosis) has been reviewed, and the clinical course has been compared with that of the infantile form (Pompe's disease). In early infancy the disease has a short and fatal course, with involvement of many organs. primarily skeletal muscules, liver and heart. In the late infantile and juvenile forms the course of the disease is slower, the organ involvement beeing not as severe; muscular symptoms begin to prevail. In adults, type II glycogenosis mimics muscular dystrophy with its prolonged course and the almost exclusive clinical involvement of proximal muscles. Biochemical and ultrastructural investigations have nevertheless demonstrated that other organs and tissues are also involved. The reasons for the variability of organ involvements in different ages are as yet unknown.
一名40岁男性患有进行性近端肌病5年，临床表现类似非典型性肢带型肌营养不良。肌电图检查显示为伴有肌强直和假肌强直放电的“肌病”模式。肌肉和肝脏活检的酶组织化学及超微结构检查提示糖原贮积症。肌肉和肝脏样本的生化检查证实了这一诊断，发现酸性麦芽糖酶缺乏。在皮肤成纤维细胞中通过电子显微镜也发现了充满糖原的溶酶体，但在白细胞中未发现。回顾了有关酸性麦芽糖酶缺乏症（II型糖原贮积症）迟发型的文献，并将其临床病程与婴儿型（庞贝病）进行了比较。在婴儿早期，该病病程短且致命，累及多个器官，主要是骨骼肌、肝脏和心脏。在婴儿晚期和青少年型中，疾病进展较慢，器官受累程度不那么严重，肌肉症状开始占主导。在成人中，II型糖原贮积症病程较长，临床表现几乎仅累及近端肌肉，类似肌营养不良。然而，生化和超微结构检查表明其他器官和组织也受累。不同年龄段器官受累情况不同的原因尚不清楚。
