进行性肌阵挛癫一家系临床与遗传学特征分析

目的 研究一个进行性肌阵挛癫(癎)家系的临床特点、遗传性特征并复习文献.方法 搜集并整理一个进行性肌阵挛癫(癎)家系患者临床表现、辅助检查及影像学资料,分析其临床特点和遗传性特征.结果 该家系呈母系遗传,先证者表现为进行性肌阵挛癫(癎)发作,同时伴有近端肌无力、肌肉萎缩、腱反射减弱.肌电图提示肌源性改变,头颅磁共振提示皮层萎缩,该家系中除先证者外其他患者均在发病后6～8 a死亡,预后差.结论 该进行性肌阵挛癫(癎)家系很可能为线粒体脑肌病的肌阵挛癫(癎)伴破碎红细胞纤维(MERRF)型,确诊有待进一步的肌肉活检和基因诊断.

Analysis of the clinic and hereditary features of a family with progressive myoclonic epilepsy

Objective To explore the clinical and hereditary features of a family with progressive myoclonic epilepsy.Methods We collected and analyzed the clinical,angiographic,auxiliary examination and hereditary documents of a family with progressive myoclonic epilepsy.Results The family was manifested as maternal inheritance.Furthermore,the proband was featured with progressive myoclonic epilepsy,proximal muscle weakness,muscle atrophy and tendon reflex weakness.Electromyography showed myogenic change.MRI scanning ...