Iancu T C, Lerner A, Shiloh H, Bashan N, Moses S
Pediatric Research Unit, Carmel Hospital, Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Eur J Pediatr. 1988 May;147(4):372-6. doi: 10.1007/BF00496413.
In addition to the infantile lethal form of glycogen storage disease with cardiomyopathy (GSD Type IIa, Pompe disease) 1,4 glucosidase or acid maltase deficiency has been reported in a few children and adults (GSD Type IIb or IIc) erroneously thought to have muscular dystrophies. The clinical heterogeneity of the muscle involvement in these latter cases is illustrated in a 12-year-old boy presenting with a right lumbar mass, growth retardation, muscular weakness including difficulty in walking, and marked elevations of muscle and liver enzymes. Light- and electron-microscopic examination of specimens from the lumbar mass, apparently normal skeletal muscle and liver, showed typical changes consistent with the biochemical and enzymatic features of acid maltase deficiency. GSD Type IIb and IIc are more frequent than suspected, may present as local pseudohypertrophy and should be considered in patients with progressive muscle disease and abnormal serum enzymes.
除了伴有心肌病的婴儿致死型糖原贮积病（Ⅱa型糖原贮积病，庞贝病）外，在一些被错误地认为患有肌营养不良症的儿童和成人中（Ⅱb型或Ⅱc型糖原贮积病），也有1,4-葡萄糖苷酶或酸性麦芽糖酶缺乏的报道。在一名12岁男孩身上体现了后一种情况下肌肉受累的临床异质性，该男孩有右腰部肿块、生长发育迟缓、肌肉无力（包括行走困难）以及肌肉和肝酶显著升高。对来自腰部肿块、看似正常的骨骼肌和肝脏的标本进行光镜和电镜检查，发现了与酸性麦芽糖酶缺乏的生化和酶学特征一致的典型变化。Ⅱb型和Ⅱc型糖原贮积病比人们怀疑的更为常见，可能表现为局部假性肥大，对于患有进行性肌肉疾病和血清酶异常的患者应予以考虑。
