肌阵挛性小脑协调不能的临床及神经电生理特点

Clinical and electroencephalogram features of dyssynergia cerebellaris myoclonica

目的 报道两个肌阵挛性小脑协调不能患者家系及一例散发患者,探讨其临床及神经电生理特点.方法 对家系中的先证者、患者及散发患者进行临床、神经影像学、视频脑电及同步肌电监测.结果 第一个家系共27位成员,其中肌阵挛性小脑协调不能患者6例(男3例,女3例);另一个家系共20位成员,其中肌阵挛性小脑协调不能患者4例(男2例,女2例).另一例为女性患者,散发发病.所有患者均有不同程度的肌阵挛、癫痫、进行性小脑共济失调表现.发作间期及发作期脑电图均可见全面性棘慢、多棘慢复合波发放,有时以双侧中央、顶、额区著;发作期同时存在相应的肌阵挛性肌肉收缩性肌电改变,发作间期EEG有时可见双侧中央、顶、额区同步及异步出现的低至中波幅棘慢、尖慢及多棘慢复合波.3例皮肤肌肉病理未见异常.结论 肌阵挛性小脑协调不能的诊断主要根据典型临床表现、影像学检查和脑电图改变,长时程视频脑电图加同步肌电监测对疾病诊断有重要价值.该病可家族性起病,也可散发.皮肤和肌肉病理可正常.

Objective We report two family and one sporadic case with dyssynergia cerebellaris myoclonica,investigate the clinical and neural electrophysiological features.Methods The proband and sporadic patient was examined by clinical,neuroimaging,video EEG and synchronous eleetromyography.Results There were 6 patients with dyssynergia cerebellaris myoclonica of the 27 family menbers in the first family(3 male and 3 female).There were 4 patients with dyssynergia cerebellaris myoclonica of the 20 family members in the second family(2 male and 2 female).All patiens had disproportionately myoclonus,epilepsy and progressive cerebellar ataxia.EEG showed bursts of spike-slow wave,polyspilke slow wave distributing in the bilateral brain both in ictal and interictal period,sometimes it is especially in central,parietal and frontal area.EEG showed bursts of spike-slow wave,polyspilke-slow wave distributing in the central,parietal and frontal area in interictal period.Pathology of the skin and muscles are normal.Conclusion The diagnosis of dyssynergia cerebellaris myoclonica was mainly based on typical clinical manifestations,brain MRI and EEG changes.Long time video EEG and synechronous EMG is important for the diagnosis.Skin and muscles pathology can be normal.