以肌无力伴水肿为主要表现的线粒体肌病1例报告并文献复习

Mitochondrial myopathy presented as myasthenia and edema： a case report and review

目的：通过相关病例及文献复习探讨线粒体肌病的临床特征、辅助检查所见特点及治疗进展情况。方法：回顾贵州医科大学附属医院收治的1例线粒体肌病患者的临床资料，结合相关文献进行分析。结果：线粒体肌病以波动性的肌无力、肌肉疼痛为主要临床特征，可伴有眼外肌、心肌，甚至自主神经系统的损害，血清肌酸激酶轻至中度升高，肌肉活检病理特点为改良GomoriTrichrome染色（MGT）可见破碎红纤维，电子显微镜下线粒体数目和形态异常，并可见典型的结晶样包涵体。结论：线粒体肌病是一类以肌无力为特点伴多系统损害的遗传性疾病，以肌肉活检病理检查和相关基因检测为主要确诊依据。对于存在肌无力伴多系统损害症状的患者，应警惕此病的可能。

Objective：To investigate the clinical manifestations, auxiliary examinations and therapy of mitochondrial myopathy. Methods：Combined with relevant literature,the clinical data of a patient with mitochondrial myopathy were retrospectively analyzed. Results：The main clinical features of mitochondri- al myopathy included fluctuate proximal＇myasthenia,myalgia and disfunation of extraocular muscles,car- diac muscles and autonomic nervous system,and an elevated serum creatine kinase （CK） level, accompa- nied by ragged red fibers on MGT staining. Electron microscope showed mitochondrial abnormalities and paracrystaline inclusion bodies. Conclusion..Mitochondrial myopathy is a rare hereditary disease characte- vized by myasthenia and disfuction of multisystem. The muscle biopsy and genetic testing are used for the definite diagnosis of mitochondrial myopathy. If a patient presented myasthenia and multisystemic symp- toms, the diagnosis of mitochondrial myopathy should be considered.