【摘要】 目的探讨儿童颈部肌阵挛伴失神发作的临床特征。方法回顾分析2例以颈部肌阵挛伴失神为发作类型的儿童癫痫的临床和脑电图特征,并复习相关文献。结果 2例均为男孩,起病年龄分别为7岁9个月、9岁10个月,出生史及生长发育史无异常,无遗传性疾病及癫痫家族史。头颅影像无异常。视频脑电图(VEEG)显示背景节律无异常,发作间期睡眠期记录到前头部或广泛性棘波、棘慢波,发作均表现为节律性摇头运动伴头颈向一侧偏转,伴意识障碍,持续约6～13 s;发作期脑电图为广泛性极高波幅3 Hz左右棘慢波节律爆发,一侧胸锁乳突肌伴有与棘波同步的约50 ms节律性肌电爆发且伴有强直电位,过度换气能诱发发作,无光敏感。基因检测无异常。患儿经丙戊酸钠治疗后发作控制。文献检索国外共报道经VEEG证实为颈部肌阵挛伴失神发作患儿4例,起病年龄为4岁9月～12岁,1种或2种抗癫痫药物治疗4个月～3年后发作控制。结论颈部肌阵挛伴失神发作是一种具有独立脑电-临床特征的全面性癫痫发作类型。更多还原

【Abstract】 Objective To explore the clinical features of neck myoclonia with absence seizures in children.Method The clinical and electroencephalogram (EEG) features of neck myoclonia with absence seizures in 2 children were analyzed retrospectively,and the related literature was reviewed.Results Both cases were boys and the age at onset was 7 years and 9 months,9 years and 10 months respectively.There was no abnormal birth history or growth history,and no family history of genetic diseases or epilepsy.Cranial imaging showed no abnormality.The video-EEG (VEEG) showed no abnormality in the background rhythm,and the anterior head or generalized spinous and slow spinous waves were recorded in the sleep period between attacks.All the episodes were characterized by rhythmic head shaking movement with lateral deflection of the head and neck,accompanied by disturbance of consciousness,lasting about 6-13 seconds.During the seizure,the EEG showed a spinous slow-wave rhythmic burst with wide and extremely high amplitudes (about 3Hz).One side of sternocleidomastoid muscle had about 50 ms of rhythmic myoelectric bursts synchronized with spinous waves,accompanied by tonic potentials.Hyperventilation could induce attack without light sensitivity.There was no abnormality in gene detection.The seizures of the both children were controlled by sodium valproate.Literature search found 4 children reported abroad with neck myoclonus with absence seizures confirmed by VEEG.The seizure was controlled after 4 months to 3 years of treatment with one or two antiepileptic drugs.Conclusion Neck myoclonus with absence seizures is a type of generalized epilepsy with independent EEG clinical characteristics.更多还原