早发儿童失神癫癎的临床和脑电特征

The clinical and electroencephalographic features in children with early-onset absence epilepsy.

目的：早发性儿童失神癫癎是一种罕见病，国内鲜见报道，故对其临床和脑电图（EEG）特征作进一步探讨。方法：分析我院诊治的2例早发性儿童失神癫痴的临床资料，结合文献复习，比较其与儿童失神癫癎的差异。结果：目前世界上仅有8例报道。本文2例患者均为3岁前起病，表现为反复发作性愣神。例1同时伴眼睑肌阵挛和手自动症；发病早期的发作间期EEG无典型失神样3Hz棘慢波改变，后期的发作间期EEG除典型的3Hz棘慢波外，还可见全面性放电与局灶放电共存，且额区优势较明显；存在轻度精神发育迟缓。例2在病程后期的发作期EEG全面性放电欠规则。丙戊酸或拉莫三嗪单药能控制发作。结论：早发性儿童失神的大部分临床特征类似典型儿童失神癫癎，但也有部分差异。注意到以上这些差异，有助于早期诊断。

Objective：Early-onset childhood absence epilepsy（ECAE） is a rare disorder, which is not reported in China so far. The clinical characteristics need to be further elucidated. Methods： The detailed clinical information of two patients with ECAE was described, and compared the clinical features of children absence epilepsy （CAE）. Results： Eight cases were reported in the world so far. In which occured 2 patients＇onset before 3 years old, characterized by paroxysmal unconsciousness. Patient 1 had eyelid myoclonus and hand automatisrm Ictal EEG showed no typical 3 Hz change in the early stage but seen in the late stage and generalized and focal discharge appeared in one recorder with frontal dominant. She had mild abnormal intelligence. Patient 2 had irregular generalized discharge in the late stage. Seizure free was achieved with Lamotrigine or valproate. Conclusion： Most characteristics of ECAE were familiar with CAE, except for mild difference. The observation of the difference can contribute to early diagnosis.