Seo Se Eun, Kim Se Hee, Lee Seung Tae, Choi Jong Rak, Lee Joon Soo, Kim Heung Dong, Kang Hoon-Chul
Division of Pediatric Neurology, Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul.
Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
Epileptic Disord. 2017 Dec 1;19(4):481-485. doi: 10.1684/epd.2017.0949.
Mowat-Wilson syndrome (MWS) is a disorder caused by mutations or deletions of the zinc finger E-box-binding homeobox 2 (ZEB2) gene. Diagnosis of MWS can be challenging to neurologists, because its manifestations are diverse and the spectrum of genetic mutations are broad. Here, we describe two patients with MWS who initially showed atypical forms of fever-triggered seizures during childhood. Both had characteristic facial features, cognitive impairment, and genito-urinary anomalies consistent with MWS. By performing targeted next-generation sequencing (NGS) using a gene panel for epilepsy, we were able to identify a nonsense mutation (c.1965C>A) in the ZEB2 gene of one patient and a frameshift mutation (c.2348dupC) in the other patient. Fever-induced seizures can be presenting signs of MWS. MWS should be considered in the differential diagnosis of fever-induced seizures, especially when the patient has distinctive facial features and multiple anomalies, including cardiac, genito-urinary, and eye defects.
莫瓦特-威尔逊综合征（MWS）是一种由锌指E盒结合同源框2（ZEB2）基因突变或缺失引起的疾病。MWS的诊断对神经科医生来说可能具有挑战性，因为其表现多样且基因突变谱广泛。在此，我们描述了两名患有MWS的患者，他们在儿童时期最初表现为非典型形式的发热引发的癫痫发作。两人都有与MWS一致的特征性面部特征、认知障碍和泌尿生殖系统异常。通过使用癫痫基因panel进行靶向二代测序（NGS），我们在一名患者的ZEB2基因中鉴定出一个无义突变（c.1965C>A），在另一名患者中鉴定出一个移码突变（c.2348dupC）。发热诱发的癫痫发作可能是MWS的表现体征。在发热诱发癫痫发作的鉴别诊断中应考虑MWS，特别是当患者具有独特的面部特征和多种异常，包括心脏、泌尿生殖和眼部缺陷时。
