Objective: To summarize and investigate the clinical characters of epilepsy in children with Mowat-Wilson syndrome (MWS), thus to improve the understanding of this disease. Methods: Clinical characters of epilepsy episodes in 5 children with MWS admitted to Department of Pediatrics, Peking University First Hospital from June to December 2020 were retrospectively reviewed. Clinical data including onset age of seizures, clinical features, characters of electroencephalogram (EEG), magnetic resonance imaging (MRI) findings, results of ZEB2 gene testing and responses to the anti-seizure medications (ASM) were summarized. Results: The onset age of seizures in the 5 patients (3 males and 2 females) ranged from 6 months to 4 years. Four patients showed focal motor seizures with diverse expressions, while the other 1 patient had epileptic spasms. All the 5 patients showed distinctive face, different degrees of intellectual disability, development delay and other congenital malformations. EEG of 4 patients presented the slowing of background rhythm and epileptiform discharges mainly occurred in the posterior region of the brain. The other 1 patient showed hypsarrhythmia at the beginning of the disease, changing into multifocal discharges mainly occurred in posterior region later. Corpus callosum abnormality and white matter disability were found from investigations of MRI in 2 patients, respectively. All the 5 patients carried a de novo heterozygous variation in the ZEB2 gene, 4 were nonsense variants and 1 was frame-shift variant. Within the follow-up of 14 months to 20 months, 3 patients achieved seizure-free more than 1 year, 2 patients achieved seizure-free more than 6 months. Two patients used valproate only and 2 patients received valproate combined with other ASM. Conclusions: Epileptic seizures are common clinical phenotype of MWS. Focal motor seizure may be the most common seizure type and epileptic spasms exist. The manifestations of EEG can be age-related. The most common type of variation of the ZEB2 gene is de novo nonsense variation. Valproate might be the first-line ASM for patients with MWS.
目的： 总结Mowat-Wilson综合征（MWS）患儿癫痫相关的临床特点，提高对此病的认识。 方法： 回顾性分析2020年6至12月就诊于北京大学第一医院的5例MWS患儿的癫痫相关临床特点，总结其癫痫发作的起病年龄、临床表现、脑电图、头颅磁共振成像（MRI）、ZEB2基因变异等特点及抗癫痫发作药物（ASM）的疗效。 结果： 5例患儿中男3例、女2例，癫痫发作起病年龄为6月龄至4岁。4例患儿表现为局灶性发作，局灶性发作表现多样，但均表现为局灶运动性发作；1例患儿表现为癫痫性痉挛发作。5例患儿均表现出特殊面容，不同程度的智力障碍、发育迟缓以及多种先天畸形。4例患儿脑电图表现为背景节律减慢和后头部为主的癫痫样放电，1例患儿脑电图病初为高度失律，后表现为后头为主的多灶性放电。2例患儿头颅磁共振成像有异常，分别表现为胼胝体发育不良和白质发育落后。5例患儿均为ZEB2基因新生杂合变异携带者，无义变异4例，移码变异1例。随访14～20个月，3例癫痫发作控制超过1年，2例癫痫发作控制超过6个月；2例单用丙戊酸，2例联合应用丙戊酸。 结论： 癫痫发作是MWS的常见临床表型，以局灶性运动性发作最常见，病程中可有痉挛发作，脑电图改变呈年龄相关性。ZEB2基因变异以新生无义变异最常见。丙戊酸对MWS疗效好，可作为MWS癫痫患儿首选的抗癫痫发作药物。.