论文部分内容阅读
目的:总结晚发型糖原累积病Ⅱ型(GSDⅡ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。
Objective: To summarize the clinical and pathological features of late onset glycogen storage disease type Ⅱ (GSD Ⅱ). Methods: The clinical and pathological data of 11 patients with GSD type Ⅱ were retrospectively analyzed. Some patients were followed up. Results: The clinical manifestations were symmetrical limb weakness, with proximal involvement mainly accompanied by weakness of respiratory muscles, creatine kinase (CK) may have increased to varying degrees, EMG showed myogenic damage to the myoelectricity Performance, may be associated with myotonic potentials. Peripheral blood α-1,4-glucosidase activity was significantly reduced muscle biopsy were myofibrobacter like changes in the main pathological features, periodic acid Schiff response visible vacuoles large amount of glycogen deposition, acid phosphatase staining Positive. Conclusion: The late onset type of GSD Ⅱ mostly presents with chronic myopathy. It is easy to affect the limbs and respiratory muscles. Serum CK is mild to moderately elevated, and the muscle pathology shows obvious vacuolation. α-glucosidase activity was significantly reduced, helps to confirm the diagnosis.