早发型儿童失神癫痫的临床及EEG特征

Clinical and EEG characteristics of early-onset childhood absence epilepsy

目的分析早发型儿童失神癫痫(EOAE)的临床及EEG特征,提高临床对本病早期阶段的临床认知。方法对2012年8月至2021年12月天水市第三人民医院癫痫中心收治的11例EOAE的临床和EEG资料进行回顾性分析,并对治疗、预后及转归进行随访。结果本组11例EOAE患儿,男6例,女5例,平均起病年龄27个月,均有频繁的典型失神发作,其中4例伴有失张力、自动症、肌阵挛成分等症状。发作期EEG呈双侧同步对称3 Hz棘慢波节律性爆发,持续2~10余秒不等,间期EEG可有限局性放电。过度换气容易诱发发作,闪光刺激不敏感。起病前神经系统检查和智力运动发育均正常。多数患儿丙戊酸钠单药或联合拉莫三嗪后发作可完全控制,2例停用药物后复发,1例使用糖皮质激素治疗有效。9例患儿发育正常。其中1例SLC2A1基因突变,对多种抗发作药物无效,生酮饮食治疗有效,存在轻度认知和行为缺陷。结论EOAE可能是一种独立的癫痫综合征,与儿童失神癫痫有一些相似的电-临床特征,但有一定的临床异质性。EOAE在临床中并不常见,多中心的研究有助于描述特定的诊断与预后特征。

Objective To analyze the clinical and EEG characteristics of early-onset childhood absence epilepsy(EOAE),and to improve clinical cognition of the disease in early stage.Methods The clinical and EEG data of 11 cases of patients with EOAE,who were admitted to the Epilepsy Treatment Center of the Third People’s Hospital of Tianshui from August 2012 to December 2021,were retrospectively analyzed.The treatment,prognosis and turnover of the patients were followed up.Results The 11 EOAE cases in this group,including 6 males and 5 females,with an average onset age of 27 months,all suffered frequent and typical absence seizures,therein,4 cases were accompanied by symptoms such as atonic seizure,automatism,and myoclonus.In the stage of attack,EEG showed rhythmic bursts of bilateral symmetrical synchronous 3 Hz spike and ware wave,lasting from 2 to 10 s.The intermittent EEG had limited and partial discharge.Hyperventilation may predispose to seizures,while flash stimulation could not trigger a sensitive reaction.The results of pre-onset neurological examination and intellectual motor development were normal.The patients largely had seizures completely controlled after treatment with sodium valproate or combination of sodium valproate and lamotrigine.Two cases relapsed after drug withdrawal,and 1 case improved with hormone therapy.Nine patients grew normally.One case had mutation in SLC2A1 gene and failed to react to multiple anti-seizure drugs,but turned better with ketogenic diet,showing mild cognitive and behavioral deficits.Conclusions EOAE may be an independent epilepsy syndrome,which shares similar electroclinical characteristics with typical childhood absence epilepsy,but has certain clinical heterogeneity.Early-onset absence epilepsies are uncommon and multicenter study can be useful to delineate specific diagnostic and prognostic features.