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Abstract：
Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial encephalomyopathy that is characterized by progressive ptosis and impaired ocular motility. Owing to its nonspecific clinical manifestations, CPEO is often misdiagnosed as other conditions. Herein, we present the case of a 34-year-old woman who primarily presented with incomplete left eyelid closure and limited bilateral eye movements. During the 6-year disease course, she was diagnosed with myasthenia gravis and cranial polyneuritis. Finally, skeletal muscle tissue biopsy confirmed the diagnosis. Biopsy revealed pathological changes in mitochondrial myopathy. Furthermore, mitochondrial gene testing of the skeletal muscle revealed a single chrmM:8469-13447 deletion. In addition, we summarized the findings of 26 patients with CPEO/Kearns-Sayre syndrome who were misdiagnosed with other diseases owing to ocular symptoms. In conclusion, we reported a rare clinical case and emphasized the symptomatic diversity of CPEO. Furthermore, we provided a brief review of the diagnosis and differential diagnosis of the disease.
摘要：
慢性进行性外眼肌麻痹（CPEO）是一种线粒体脑肌病，其特征是进行性上下垂和眼运动受损。由于其非特异性临床表现，CPEO经常被误诊为其他疾病。在这里，我们介绍了一例34岁女性，主要表现为左眼睑闭合不全和双侧眼球运动受限。在6年的病程中，她被诊断为重症肌无力和头颅多发性神经炎。最后,骨骼肌组织活检证实诊断。活检显示线粒体肌病的病理变化。此外，骨骼肌的线粒体基因检测显示单个chrmM：8469-13447缺失。此外,我们总结了26例因眼部症状而误诊为其他疾病的CPEO/Kearns-Sayre综合征患者的发现。总之,我们报道了一例罕见的临床病例,并强调了CPEO的症状多样性.此外，我们简要回顾了该疾病的诊断和鉴别诊断.
