摘要
目的:总结肌糖原累积病(MGSD)临床与活检骨骼肌的病理特点。方法:回顾性分析16例MGSD患者的临床和骨骼肌病理资料。结果:临床表现包括肌力下降、运动不耐受、肌痛、肌张力减低等,可合并多系统受累;血肌酸激酶不同程度升高;肌电图正常或呈肌源性/神经源性损害。活检骨骼肌病理分析:典型病理表现为细胞浆内散在不定形空泡和/或PAS染色空泡内糖原流失或蓄积;2例酸性磷酸酶活性增加;1例磷酸化酶活性缺失;电镜下可见大量糖原颗粒聚集,MGSDⅡA病患者可见双膜自噬泡、髓样小体、溶酶体聚集和糖原颗粒蓄积。结论:骨骼肌活检对MGSD诊断与鉴别诊断具有重要价值;细胞浆内糖原空泡、糖原蓄积是重要病理诊断依据,酸性磷酸酶、磷酸化酶特殊染色有助于分型诊断,指导致病基因测序;电镜下溶酶体髓磷脂样改变支持MGSDⅡA型诊断。
Objective：To summary the clinical and skeletal muscle biopsy pathological features of muscle glycogen storage disease. Methods：The clinical and pathological data of the 16 cases of muscle glycogen storage disease （MGSD） were retrospectively analyzed. Results： The clinical manifestations include muscle weakness, exercise intolerance, myalgia, and muscle tonus reducing which may be accompanied by multitude systems involvement. Serum creatine kinase was increased at varying degrees. Electromyography showed normal or myogenic or neurogenic damage. Typical pathology manifestation was unshaped vacuoles in the cytoplasm of muscle fibers , glycogen washed away or accumulated in the vacuoles in PAS staining. The activities of acid phosphatase were increased in two cases. The activity of phosphorylase was absent in one case. Many glycogens were accumulated under electron microscope. MGSDⅡA patients showed double membrane autophagy gathered vacuoles, myeloid bodies, lysosomes gathered and glycogen granules. Conclusion： Skeletal muscle biopsy pathology analysis plays an important role on diagnosis and differential diagnosis. Glycogen vacuoles and accumu-lation in the cytoplasm of muscle fibers are important pathology diagnosis evidence. Special staining such as acid phosphatase and phosphorylase is helpful in classification diagnosis and guiding causative gene sequencing. Lysosome myelin-like change supports MGSDⅡA disease diagnosis under electron microscope.
出处
《神经损伤与功能重建》
2014年第5期395-398,共4页
Neural Injury and Functional Reconstruction
关键词
肌糖原累积病
骨骼肌活检
组织化学染色
病理分析
muscle glycogen storage disease
skeletal muscle biopsy
histochemical stain
pathological analysis
