8例家族性皮质肌阵挛震颤性癫痫临床特点分析

Analysis of 8 cases of Familial Cortical Myoclonic Tremor with Epilepsy

目的分析家族性皮质肌阵挛震颤性癫痫(FCMTE)的临床特点。方法对8例FCMTE患者的临床资料进行回顾性分析,总结家系的临床特点、遗传特征。结果 8例FCMTE患者,连续3代发病,男女均受累,均30岁以后起病,先后出现震颤、全面强直-阵挛发作。其中,5例伴头痛,6例有肢体震颤,4例有情绪焦虑,1例有共济失调症状。8例均于30岁以后癫痫发作,呈强直-阵挛发作。4例刺激左右正中神经记录的躯体感觉诱发电位(SEPs)可见巨大电位,未见C-反射。结论 FCMTE呈常染色体显性遗传,均发生于成人,表现为四肢末端细微震颤、强直-阵挛性癫痫发作,光刺激、情绪激动或惊吓时可诱发。服抗癫痫药有效,服用β受体阻滞剂或饮酒无效,为非进展性病程。神经电生理检查提示肌阵挛或震颤来源于大脑皮质。

Objective To analyze clinical features in a pedigree of Familial Cortical Myoclonic Tremor with Epilepsy（ FCMTE）. Methods We collected 8 pedigrees and they were diagnosed as Familial cortical myoclonic tremor with epilepsy. In this study,we had the investigatedion of clinical characteristics and genetic features of the FCMTE family. Results The clinical features of affected individuals were as follows： disease incidence across three generations; adult onset with both genders affected; 5 cases with headache,6 cases with limb tremor,4 cases with emotional anxiety,1 cases of ataxia. In all 8 cases. After the age of 30 had seizures,they had tonic clonic seizures after the age of 30. In 4 cases,the somatosensory evoked potential（ SEPs） of the left and right median nerve was recorded with a great potential,and no C-reflex was found.Conclusion FCMTE is autosomal dominant inheritance; Primary disease manifestations include distal limb tremors and seizures; some patients present with comprehensive tonic seizures after light stimulation,emotional stimuli or startle; Anti-epilepsy drugs are effective,while β-receptor blockers or alcohol is invalid. Symptoms are non-progressive and effectively managed with oral phenobarbital; and s Somatosensory evoked potentials support a cortical source for tremors.