大田原综合征17例临床及脑电图分析

Clinical and EEG characteristics of 17 cases of Ohtahara syndrome

目的 分析和探讨大田原综合征 (OS)的病因、临床、EEG、神经影像学和转归的特征以及与其他年龄依赖性癫疒间 脑病的关系。方法 通过住院观察及EEG、脑干诱发电位、CT、MRI、血生化等辅助检查和随访 ,对 17例OS的诊治进行分析和探讨。结果 17例中 ,男 11例 ,女 6例 ;首发年龄 :生后 8h至80d ,其中 <1个月 11例 ,平均 2 7d ;所有患儿都有强直或 (和 )强直痉挛发作史 ,多数伴有部分性或非对称性痉挛发作 ,每日发作 10～ 5 0次不等 ;同时伴有严重的神经精神发育迟滞 ;母孕史和家族史异常 9例 ,窒息史 4例 ;影像学显示非对称性脑发育不全 9例 ,双侧广泛性脑萎缩伴外部性脑积水 7例 ;发作间期EEG为暴发抑制图形 ,发作期表现为高幅慢波和不规则棘波或棘慢波与低波幅快波活动交替。结论 OS是年龄依赖性癫疒间 脑病中最严重的早期婴儿癫疒间 综合征 ,与多种病因有关 ;预后差 ,与WS和LGS具有年龄依赖性演变的相互关系。

Objective To explore the clinical characteristics,etiology,EEG,neuroimaging,therapy,prognosis of Ohtahara symdrome(OS) and its relationship with other age-dependent epileptic encephalopathy(ADEE).Methods The data of 17 patients were analyzed and followed by means of EEG,BAEP,VEP,CT,MRI and blood analysis.Results A total of 17 cases with OS included 11 boys and 6 girls.The initial seizures or tonic spasms started from 8 hours of birth to less than 3 months with an average period of 27 days,of whom 11 cases aged less than one month.The cardinal seizure type of those patients was tonic or tonic spasms,most of them presented with partial or asymmetric tonic seizures.Frequency of daily seizures was very high,ranging from approximately 10 to 50 times of single spasms or 5 to 20 series of clustering spasms.Furthermore,almost all cases showed a psychomotor retardation.The history of abnormal pregnancy,family epilepsy and birth asphyxia was found in 8,1,4 cases,respectively.Neuroimaging showed 9 cases of the cortical dysplasia,7 of bilateral extensive brain atrophy and external hydrocephalus.The characteristic EEG of S-B pattern was constantly observed,while ictal EEG just presented the sudden flattening of background activity after high voltage slow waves or low voltage fast activity(less than 50 μV) on the flattened part and recruiting rhythm after initial flattening.Conclusion OS is one of the severe infantile epileptic syndrome in the early period of childhood among the ADEE with polyetiology and organic or static brain lesions.Although OS is an independent clinico-electrical entity with its specific features and poor prognosis,it is evolutionally correlated with WS and LGS.