Abstract:

To analyze the clinical and EEG characteristics，treatment，prognosis and evolution of Ohtahara syndrome （OS）. Methods 　Review the clinical，EEG and neuroimaging data of 15 patients with OS，and also follow up the treatment，prognosis，and  volution. Results 　Of the 15 patients，12 were male，and 3 were female. The age of onset was from 1 d to 50 d. The onset age was less than one month in 12 patients and less than 10 days in 9 patients. Partial seizures as the onset type were observed in 11 out of 15 patients. All patients had tonic spasms seizures in the course of the disease and 11 patients also had partial seizures with tonic spasms seizures in one EEG monitoring. Further，tonic spasms seizures associated with partial seizures in a single ictal event （combined seizures） were recorded in 7 patients. The age of first EEG monitoring was from 2 m to 4 m. Interictal EEG showed suppression-burst （S-B） pattern in 7 cases， hypsarrhythmia mixed with S-B in 7 cases，and S-B in one hemisphere and hypsarrhythmia in contralateral in one case. Pregnancy or birth history was abnormal in 4 cases. Neuroimaging abnormalities were found in 12 cases，of which hemimegalencephaly malformations presented in 5 cases. Except one case，antiepileptic drugs were unsatisfactory in 14 cases. Hormone therapy was also poor in 7 patients who had been treated. All the children had psychomotor development deficits. The evolution in follow-up 6 cases included seizure control，infantile spasms or then followed by LGS or focal epilepsy. Conclusion　OS is severe epileptic encephalopathy of very early life. There is a male predominance. Tonic spasms seizures are the characteristic seizure type in OS. Partial seizures can occur before，at the same tim or after tonic spasms seizures disappear，especially combined with tonic spasms seizures in a single attack. Structural brain abnormalities are common in OS. This disease has a poor response to treatment and a bad prognosis. Clinical and EEG evolution may have several different forms of outcomes.

Key words: Ohtahara syndrome, suppression-burst, electroencephalogram

摘要：

总结大田原综合征（OS）的临床及脑电图（EEG）特征、治疗、预后及转归。方法　2005年5月至2010年7月北京大学第一医院儿科神经及新生儿病房住院诊治的15例OS患儿。对其临床、EEG及影像学等资料进行总结，并对治疗、预后、临床特征及EEG转归进行随访。结果　15例患儿起病年龄为生后当日至50 d，其中1个月内起病12例，生后10 d内起病9例。15例中11例以部分性发作起病，所有患儿病程中均有强直痉挛发作，11例EEG监测记录到部分性发作，7例监测到强直痉挛发作和部分性发作为一次发作性事件联合出现。EEG监测年龄为2～4个月，发作间期7例为爆发-抑制（S-B），7例兼有高度失律及S-B图形，1例一侧半球为S-B、一侧半球为高度失律。母孕史或出生史异常共4例。影像学异常12例，其中一侧巨脑回5例。14例对抗癫痫药疗效欠佳，1例发作控制。7例经激素治疗疗效均欠佳，1例手术治疗后仍有发作。所有患儿均有智力运动发育落后，6例随访时转归包括发作控制、婴儿痉挛或随后转为Lennox-Gastaut综合征、局灶性癫痫。结论　OS是婴儿早期起病的癫痫性脑病，男性较女性易感。强直痉挛发作为特征性发作类型，部分性发作可出现于强直痉挛发作之前、同期或发作完全停止后，两种发作类型同期存在时常可在一次发作过程中联合出现。本病常有静止性脑结构异常，治疗及预后差，临床及脑电图可出现多种形式的转归。

关键词: 大田原综合征, 爆发-抑制, 脑电图