眼睑肌阵挛失神综合征患者临床特点及视频脑电图特征分析

Study of the Clinical Feature and Video-EEG of Syndrome of Eyelid Myoclonia and Absences

目的探讨眼睑肌阵挛失神综合征(EMA)患者的临床特点及视频脑电图特征。方法回顾性分析2006年1月—2012年8月我院确诊的8例EMA患者的临床及视频脑电图资料。结果 8例EMA患者中男1例,女7例;眼睑肌阵挛(EM)平均起病年龄(8.5±3.4)岁;1例仅有EM一种发作形式,3例伴有失神发作,6例伴有全面强直阵挛发作。8例患者第1次脑电图检查仅1例发现全导棘慢波,均未能确诊EMA。2例患者有高热惊厥病史;1例患者有高热惊厥家族史。所有患者EM以眼睑的节律性抽动为最突出症状,抽动频率为3～6次/s,每次发作持续1～8 s。3例患者伴有眼球上视及头后仰的强直成分,3例患者在眨眼发作>3 s后伴有不同程度的意识障碍,1例伴有双手抖动。脑电图特征:发作间歇期癫痫样放电主要表现为广泛性的3～6 Hz棘波节律、棘慢复合波或多棘慢复合波单发或节律性爆发;发作期脑电图主要表现广泛性高波幅3～6 Hz棘慢波或多棘慢波节律性爆发。所有患者在闭目异常放电增多,6例患者对间断闪光刺激敏感,3例过度换气诱发异常放电增多。结论眼睑肌阵挛失神综合征症状相对较轻、发作时间短暂,易被误诊,视频脑电图对于该综合征的正确诊断具有重要的临床意义。

Objective To explore the clinical and video - EEG features of the syndrome of eyelid myoclonia and ab- sences （EMA） . Methods Clinical and video - EEG data of 8 cases of identified EMA admitted to our hospital from January 2006 to August 2012 were retrospectively analyzed. Results There were 8 cases of EMA, 1 male and 7 female. The mean age of onset of 8 cases EMA was （8.5 ~ 3.4） . One case of them had EM seizure only, and three cases had EM combined with absence and six cases had EM combined with GTCS seizure. In all of the cases, only one was found generalized spike and waves at first EEG check and all patients failed to be diagnosed as EMA. Two cases had history of febrile seizures, and a family history of fe- brile seizures was found in one case. All patients had eyelid myoclonia characterized by marked rhythmic jerking of the eyelids at a frequency of 3 to 6 times per second, and lasting 1 to 8 seconds. Three cases were associated with jerky upwards deviation of the eyeballs and retropulsion of the head. The three cases were accompanied with disturbance of consciousness after more than three seconds rhythmic jerking of the eyelids. One case was associated with hands trembling. EEG features ： Interictal EEG showed gen- eralized 3 to 6 Hz spike, spike and poly spike - and - waves discharge or rhythmic burst. Ictal EEG showed generalized high am- plitude spike and poly spike - and - waves at 3 to 6 Hz during EM seizures. All of the cases had increased epileptic discharge by eye closure, and six cases had photosensitivity, three cases had increased epileptic discharge by hyperventilation. Conclusion Video - EEG is very important for the diagnosis of syndrome of eyelid myoclonia with absences. Because the symptom is slight, and the seizure time is transient, the syndrome is liable to be misdiagnosed.