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

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 Gomori T richrome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。

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

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 .