肌阵挛性小脑协调不能一家系临床及神经影像学特点

Clinical and neuroimaging features of dyssynergia cerebellaris myoclonica in a Chinese family

目的通过报道一个肌阵挛性小脑协调不能患者家系，探讨其临床、遗传学及神经影像学特点。方法对该家系中的先证者进行临床、神经影像学、脑电图、皮肤肌肉病理学及血液学检查，对家系中的其余该病患者进行追踪，绘出家系图谱。结果该患者家族27位成员中共有肌阵挛性小脑协调不能患者6例，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。先证者颅脑MRI可见全脑萎缩，其中小脑和皮质萎缩略重。脑白质可见长T1长T2异常信号，T2FLAIR像呈高信号。脑电图见棘慢波、多棘慢波。皮肤肌肉病理活体组织检查未见异常。结论肌阵挛性小脑协调不能为常染色体显性遗传疾病，临床主要表现为肌阵挛、进行性小脑共济失调和癫痫。颅脑磁共振可表现为脑皮质及小脑萎缩、脑白质异常信号，脑电图棘慢波。诊断主要根据家族遗传史、典型临床表现及颅脑MRI和脑电图特点。

Objective To investigate the clinical, genetic and neuroimaging features by reporting a family with dyssynergia cerebellaris myoclonica. Methods The proband was examined clinically by neuroimaging, electromyography （EEG）, skin and muscles pathology and hematology. The patients with the illness in the family were followed up and the pedigree was drawn. Results There were 6 patients with dyssynergia cerebellaris myoclonica of the 27 family members in the family. All patients had disproportionate myoclonus, epilepsy, progressive cerebellar ataxia performance. Proband brain MRI showed cerebral atrophy. Cerebellar and cortical atrophy were more serious than other parts. There were long T1 and long T2 signals in the white matter, high signal in T2FLAIR. EEG showed bursts of spike-low wave, polyspilke-low waves and polyspike waves distributing in the whole brain. Pathology of the skin and muscles was normal. Conclusions Dyssynergia cerebellaris myoclonica is an autosomal dominant disease, characterised by myoclonus, progressive cerebellar ataxia and epilepsy. Brain MRI shows cerebral cortical and cerebellar atrophy, abnormal signal in white matter. EEG showes spike and ware wave. The diagnosis is mainly based on family history, typical clinical manifestations, brain MRI and EEG changes.