Ito Susumu, Nagumo Kaoruko, Nishikawa Aiko, Oguni Hirokazu, Nagata Satoru
Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, Japan.
Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, Japan.
Brain Dev. 2021 May;43(5):666-668. doi: 10.1016/j.braindev.2020.12.018. Epub 2021 Jan 16.
Epilepsy with myoclonic absences (EMA) is a rare childhood-onset syndrome characterized by absences of responsiveness accompanied by bilateral rhythmic clonic-like myoclonic jerks. Herein, we describe the case of a child with EMA, resistant to multiple commonly used antiepileptic drugs, in whom low-dose phenobarbital unexpectedly achieved complete remission of epilepsy.
A 10-year-old boy was referred to our hospital because of pharmaco-resistant frequent myoclonic absence seizures (MASs) and occasional generalized tonic-clonic seizures (GTCSs) that had commenced at the age of 7 years. Antiepileptic drugs including valproate sodium (VPA), levetiracetam, ethosuximide (ESM), clobazam, zonisamide, topiramate, clonazepam and lamotrigine were tested without significant effects. At the age of 8 years, phenobarbital was added to the VPA and ESM and increased to 1.2 mg/kg/day (blood concentration 8.6 µg/mL), which suppressed MASs completely within 1 month, and epileptic discharges on electroencephalography (EEG) within 5 months. To date, the boy has been seizure-free with normal EEG for 2 years.
Phenobarbital is a potential therapeutic option for pharmaco-resistant EMA.
肌阵挛失神癫痫(EMA)是一种罕见的儿童期起病综合征,其特征为反应缺失伴双侧节律性阵挛样肌阵挛抽搐。在此,我们描述了一名EMA患儿的病例,该患儿对多种常用抗癫痫药物耐药,而低剂量苯巴比妥意外地使癫痫完全缓解。
一名10岁男孩因自7岁起出现耐药性频繁肌阵挛失神发作(MASs)和偶尔的全身强直阵挛发作(GTCSs)而被转诊至我院。对包括丙戊酸钠(VPA)、左乙拉西坦、乙琥胺(ESM)、氯巴占、唑尼沙胺、托吡酯、氯硝西泮和拉莫三嗪在内的抗癫痫药物进行了测试,但均无显著效果。8岁时,在VPA和ESM基础上加用苯巴比妥,并增至1.2mg/kg/天(血药浓度8.6μg/mL),1个月内完全抑制了MASs,5个月内脑电图(EEG)癫痫放电消失。迄今为止,该男孩已无癫痫发作,EEG正常达2年。
苯巴比妥是耐药性EMA的一种潜在治疗选择。