病例报告：1例线粒体脑肌病继发性癫痫病例分析

Case Report: Analysis of a Case of Secondary Epilepsy Caused by Mitochondrial Encephalomyopathy

摘要: 目的：分析1例线粒体脑肌病伴高乳酸血症和卒中样发作病例，为临床对该疾病的识别及处置提供借鉴和帮助。方法：通过分析1例线粒体脑肌病伴高乳酸血症和卒中样发作病例的发病及诊治过程。结果：患者以发作性意识丧失及头痛为主要症状。血浆乳酸5.0 mmol/L，全血乳酸19.8 mmol/L；MND肌电图示：上下肢呈肌源性改变，近端受累更显著；肌肉活检符合线粒体脑肌病之骨骼肌改变；脑电图检查：异常EEG；MRI脑肿瘤多模态增强扫描：MRS可疑乳酸峰；线粒体基因全长示：m.3243A > G约34.09%。患者临床表现、实验室检查、肌肉活检及基因检测等支持诊断完成。给予左乙拉西坦、丙戊酸钠等抗癫痫，精氨酸、辅酶等治疗，患者出院时癫痫无发作，症状改善。结论：由于线粒体脑肌病临床表现多样、发病机制复杂，常常被误诊为脑卒中、癫痫等疾病，不易在临床中发现，基因检测及肌肉活检有助于诊断，尚无特异治疗方案，预后不佳。

Abstract: Objective: A case of MELAS attack was analyzed to provide reference and help for clinical identification and treatment of the disease. Methods: Patient’s main symptoms are paroxysmal loss of consciousness and headache. Plasma lactic acid 5.0 mmol/L, whole blood lactic acid 19.8 mmol/L; MND electromyography showed that the upper and lower limbs showed myogenic changes, and the proximal part was more involved. Muscle biopsy was consistent with the changes of skeletal muscle in mitochondrial encephalomyopathy; Electroencephalogram: abnormal EEG; Multi-modal enhanced MRI scan of brain tumors: MRS suspicious lactic acid peak; The full length of mitochondrial gene showed that m.3243A > G was about 34.09%. The patient’s clinical manifestations, laboratory examination, muscle biopsy and genetic testing support the diagnosis. Symptomatic treatment was given, and the patient’s symptoms improved and he was discharged. Conclusion: Mitochondrial encephalomyopathy has various clinical manifestations and complicated pathogenesis, and is often misdiagnosed as stroke, epilepsy and other diseases, which is not easy to be found in clinic. Gene detection and muscle biopsy are helpful for diagnosis, and there is no specific treatment scheme, so the prognosis is not good.