以癫持续状态起病的线粒体脑肌病合并乳酸血症与脑卒中样发作的临床特征分析

A Group of Mitochondrial Encephalopathy with Lactic Acidosis and Stroke with Onset of Status Epileptics:Study of Clinical Features

目的：探讨以癫持续状态起病的线粒体脑肌病合并乳酸血症与脑卒中样发作（MELAS）患者的临床、脑电图、影像学及肌肉病理等特点。方法：对收治并最终确诊为MELAS的6例（年龄13~40岁）病例进行总结、分析其临床与脑电图相关特征。结果：6例患者均以癫持续状态起病,头颅MRI提示脑实质内异常病灶,发作间期脑电图检查提示相应区域有样放电,肌肉活检见破碎红纤维（RRF）。结论：对青少年及成人起病的难治性或进展性癫,临床诊断应考虑线粒体疾病的可能。MELAS患者由于存在线粒体功能损害与ATP能量供应障碍,其神经细胞更易遭受兴奋性毒性侵害,应尽早选择合适的抗癫药物干预以阻止癫持续状态的发生。

Aim： To investigate the clinical features of a group of mitochondrial encephalomyopathy with lactic acidosis and stroke（MELAS） patients with onset of status epileptics.Methods： All patients with diagnosis of MELAS by muscle biopsy were followed up.Their seizures,EEGs,image findings,and therapeutic data were reviewed to analyze their semiological characters.Results： Patients in this study were onset with status epileptics.MRI showed hyperintense gyriform lesion on T2 and bilateral dystrophic basal ganglia classifications.EEG found interictal activities.Muscle biopsy showed ragged red fibers.Conclusion： Mitochondrial dysfunction has gained considerable interest as a potential cause of epileptic seizures and therapy-resistant forms of severe epilepsy.Status epileptics has an even greater impact on patients with mitochondrial disease.Rapid antiepileptic treatment of patients with MELAS with status epileptics is important.