Nasser Hala, Lopez-Hernandez Elisa, Ilea Adina, Le Morvan Neli, Bellavoine Vanina, Delanoë Catherine, Auvin Stéphane
AP-HP, Hôpital Robert Debré, Service des explorations fonctionnelles, Paris, Université Paris Diderot, Sorbonne Paris Cité, INSERM UMR1141, Paris.
AP-HP, Hôpital Robert Debré, Service des explorations fonctionnelles, Paris.
Epileptic Disord. 2017 Jun 1;19(2):137-146. doi: 10.1684/epd.2017.0905.
Typical absence seizures are observed in various epilepsy syndromes, however, few series have focused on early-onset absence epilepsy (EOAE). We aimed to evaluate the occurrence of this seizure type in children under 4 years of age in order to evaluate their electroclinical characteristics and outcome. We retrospectively studied (2006-2014) the electroclinical features of children with normal development and typical absence seizures starting before the age of 4 (with available pre-treatment video-EEG). Nine patients were included. Among them, eight patients had rhythmic myoclonic jerks involving the muscles of the upper face (eyebrows and eyelids) or neck, present from the onset to the end of the typical absence discharge. The myoclonia were synchronous with spike-wave complexes. One patient with GLUT-1 deficiency was refractory to antiepileptic polytherapy. The other eight became seizure-free; five with one antiepileptic drug and three with a combination of two drugs. The treatment was successfully withdrawn in five of the six patients who achieved two years of seizure freedom. None of them exhibited any other seizure type. Four of the eight patients with normal schooling required some support. We observed a positive correlation between the duration of absence seizure and the age of the patient at examination. Most of the patients under four years with only typical absence seizures had EOAE, and the motor symptoms may represent a distinctive age-related feature of EOAE. Further investigations are required to better correlate the role of brain maturation with the duration of the absence. [Published with video sequence on www.epilepticdisorders.com].
典型失神发作可见于多种癫痫综合征，然而，很少有系列研究聚焦于早发性失神癫痫（EOAE）。我们旨在评估4岁以下儿童中这种发作类型的发生率，以评估其电临床特征及预后。我们回顾性研究了（2006 - 2014年）发育正常且4岁前起病的典型失神发作儿童（有治疗前视频脑电图资料）的电临床特征。纳入9例患者。其中，8例患者从典型失神放电开始至结束均有累及上脸（眉毛和眼睑）或颈部肌肉的节律性肌阵挛性抽搐。肌阵挛与棘慢复合波同步。1例患有葡萄糖转运体1缺乏症的患者对抗癫痫联合治疗无效。其他8例患者癫痫发作消失；5例仅用一种抗癫痫药物，3例联合使用两种药物。在6例实现两年无癫痫发作的患者中，有5例成功撤药。他们均未出现任何其他发作类型。8例正常上学的患者中有4例需要一些支持。我们观察到失神发作持续时间与检查时患者年龄呈正相关。大多数4岁以下仅患有典型失神发作的患者患有EOAE，且运动症状可能代表EOAE的一种独特的年龄相关特征。需要进一步研究以更好地关联脑成熟与失神发作持续时间的作用。[已在www.epilepticdisorders.com上发布视频序列]
