PDF(Pubmed)
Abstract：
Electrical status epilepticus during sleep (ESES) is an electrographic pattern associated with specific genetic disorders, brain malformations, and use of some antiseizure medications. This case report aims to present the management of ESES in Sotos syndrome (SoS) on carbamazepine. A nine-year-old Filipino male with clinical features suggestive of overgrowth syndrome presented with febrile seizure at one year old. Cranial imaging showed cavum septum pellucidum, corpus callosal dysgenesis, and ventriculomegaly. He was on carbamazepine monotherapy starting at three years old. A near continuous diffuse spike-wave discharges in slow wave sleep was recorded at nine years old hence shifted to valproic acid. Follow-up study showed focal epileptiform discharges during sleep with disappearance of ESES. Next generation sequencing tested positive for rare nonsense mutation of nuclear receptor binding set-domain protein 1 confirming the diagnosis of SoS. Advanced molecular genetics contributed to determination of ESES etiologies. To date, this is the first documented case of SoS developing ESES. Whether an inherent genetic predisposition or drug-induced, we recommend the avoidance of carbamazepine and use of valproic acid as first-line therapy.
摘要：
睡眠中的电癫痫持续状态（ESES）是与特定遗传疾病相关的电图模式，大脑畸形,和使用一些抗癫痫药物。本病例报告旨在介绍卡马西平在Sotos综合征（SoS）中的ESES管理。一名9岁的菲律宾男性，其临床特征提示过度生长综合征，一岁时出现高热癫痫发作。颅骨成像显示透明腔间隔，call体发育不全，还有脑室肿大.他从三岁开始服用卡马西平单一疗法。在9岁时记录到慢波睡眠中几乎连续的弥漫性尖峰波放电，因此转移到丙戊酸。随访研究显示睡眠时局灶性癫痫样放电伴随ESES消失。下一代测序检测核受体结合集域蛋白1的罕见无义突变呈阳性，证实了SoS的诊断。先进的分子遗传学有助于确定ESES病因。迄今为止,这是SoS开发ESES的第一个记录在案的案例。无论是固有的遗传易感性还是药物诱导的，我们建议避免使用卡马西平和使用丙戊酸作为一线治疗.
