晚发型糖原累积病II型的临床和病理研究

目的：总结晚发型糖原累积病II型（CSDII型）的临床及病理学特点。方法：回顾性分析11例GSDII型患者的临床和病理资料，并对部分患者进行随访。结果：临床表现为对称性四肢肌无力，以近端受累为主，可伴有呼吸肌无力，肌酸激酶（cK）可有不同程度升高，肌电图检查均呈肌源性损害肌电表现，可伴肌强直电位。外周血α-1，4-葡萄糖苷酶活性明显减低，肌肉活组织检查均以肌纤维空泡样变为主要病理特征，过碘酸希夫反应可见空泡内大量糖原沉积，酸性磷酸酶染色阳性。结论：晚发型GSDII型多表现为慢性肌病，易累及四肢肌和呼吸肌，血清CK轻度至中度升高，肌肉病理见明显空泡样变。α-葡萄糖苷酶活性明显减低，有助于确诊。

Clinical and Pathological Features of Late-onset Glycogen Storage Disease Type II

Aim： To investigate the clinical and pathological features of late-onset glycogen storage disease type II （GSD type II ）. Methods： Eleven GSD type II patients were followed up, and their clinical profiles and pathological data were reviewed retrospectively. Results： Eleven late-onset cases presented with a slowly progressive proximal myopathy, some with predominant respiratory insufficiency. Serum creatine kinase was mildly to moderately elevated （262-1 802 U·L^-1）. Electromyography indicated a definite myopathy in 9 patients, and abnormal irritability in 3 patients. The common muscle pathological feature was a vacuolar myopathy with high glycogen content and acid phosphatase acitvity in the vacuoles. Conclusion： Late-onset GSD type II often presented slowly progressive myopathy, which often affected the limb and respiratory muscles. The CK level was usually mildly to moderatly elevated, muscle pathology showed remarkable vacuolar myopathy. The α-glucosidase activity was significantly reduced, which could help to diagnose.