伴线粒体A3243G突变MELAS的脑电图特征  

The features of electroencephalogram in a MELAS patient with A3243G mutation

作　　者：荣培[1] 王桂芝[1] 侯春蕾[1] 任连坤[1] 李旭东[1] 王康[1] 汪仁斌[1] 焦劲松[1] 

机构地区：[1]卫生部中日友好医院神经内科脑电图室,北京100029

出　　处：《癫痫与神经电生理学杂志》2014年第2期97-101,共5页Journal of Epileptology and Electroneurophysiology(China)

摘　　要：目的：通过对1例线粒体脑肌病伴高乳酸血症和卒中样发作综合征（MELAS）脑病型病例的脑电图（EEG）进行动态观察，探讨其特殊波形周期性波出现时期与其病程及影像学的相关性。方法：对该患者的临床、实验室、影像学及EEG特点进行回顾性分析。结果：通过线粒体基因检测和肌肉活检，明确线粒体A3243突变MEI。AS的诊断。EEG早期显示典型周期样波形改变，4个月后随病程演变，EEG背景变慢，且周期性放电趋于不典型出现。EEG可见颞枕顶叶一侧性周期性波的出现与MRI显示病灶分布部位相符。结论：本病例显示了周期性放电对线粒体脑病有提示诊断的作用，对于临床观察分析病情，判断预后起到重要作用，而且与局部影像学的改变联系紧密。Objective： To explore the association between electrophysiological features and the change of neuroimage in a patient with mitochondrial encephalomyopathy lactic acidosis and stroke like episodes（MELAS） reflected in EEG. Methods： The clinical, laboratory,imaging and EEG results were re- viewed. Results： The patient presented seizure, abnormal cognition and behavior, and was diagnosed as MEI.AS with A3243G mutation. EEG showed the unilaterally periodic waves which were consistent with the foci of temporal,occipital and parietal lobes identified on MRI. 4 months later EEG became slow and periodic discharge disappeared. Conclusion：The study suggests that periodic discharges contributes to the diagnosis of mitoehondrial encephalopathy and plays an important role in analyzing the condition of the disease and estimating the prognosis, and are closely associated with the changes in imaging.

关 键 词：线粒体脑肌病伴高乳酸血症和卒中样发作综合征(MEL.AS) 脑电图(EEG) 周期性波 

分 类 号：R742[医药卫生—神经病学与精神病学] R741.044[医药卫生—临床医学]