Şenbil Nesrin, Arslan Zeynep, Sayın Kocakap Derya Beyza, Bilgili Yasemin
Department of pediatric neurology, Kırıkkale University Faculty of Medicine, Kırıkkale, Turkey.
Department of pediatrics, Kırıkkale Unıversity Faculty of Medicine, Kırıkkale, Turkey.
Child Neurol Open. 2021 Apr 23;8:2329048X211006511. doi: 10.1177/2329048X211006511. eCollection 2021 Jan-Dec.
Mowat-Wilson syndrome (MWS) is an autosomal dominant genetic disorder caused by ZEB2 gene mutations, manifesting with unique facial characteristics, moderate to severe intellectual problems, and congenital malformations as Hirschsprung disease, genital and ophthalmological anomalies, and congenital cardiac anomalies. Herein, a case of 1-year-old boy with isolated agenesis of corpus callosum (IACC) in the prenatal period is presented. He was admitted postnatally with Hirschsprung disease (HSCR), hypertelorism, uplifted earlobes, deeply set eyes, frontal bossing, oval-shaped nasal tip, ''M'' shaped upper lip, opened mouth and prominent chin, and developmental delay. Hence, MWS was primarily considered and confirmed by the ZEB2 gene mutation analysis. His karyotype was normal. He had a history of having a prenatally terminated brother with similar features. Antenatally detected IACC should prompt a detailed investigation including karyotype and microarray; even if they are normal then whole exome sequencing (WES) should be done.
莫瓦特-威尔逊综合征（MWS）是一种由ZEB2基因突变引起的常染色体显性遗传病，表现为独特的面部特征、中度至重度智力问题以及先天性畸形，如先天性巨结肠、生殖器和眼科异常以及先天性心脏异常。本文介绍了一例产前诊断为孤立性胼胝体发育不全（IACC）的1岁男孩病例。他出生后因先天性巨结肠（HSCR）、眼距增宽、耳垂上翘、眼窝深陷、额头突出、鼻尖呈椭圆形、上唇呈“M”形、张口和下巴突出以及发育迟缓而入院。因此，最初考虑为MWS，并通过ZEB2基因突变分析得以确诊。他的核型正常。他有一个产前终止妊娠的兄弟，具有相似特征。产前检测到的IACC应促使进行包括核型和微阵列在内的详细检查；即使结果正常，也应进行全外显子测序（WES）。
