Mowat-Wilson syndrome with Hirschsprung′s disease and vaginal atresia: case report and literature review
10.3760/cma.j.cn101070-20220501-00487
- VernacularTitle:Mowat-Wilson综合征伴先天性巨结肠、阴道闭锁1例并文献复习
- Author:
Shuangshuang LI
1
;
Yong ZHAO
;
Junmin LIAO
;
Yanan ZHANG
;
Yichao GU
;
Kaiyun HUA
;
Dingding WANG
;
Jinshi HUANG
Author Information
1. 国家儿童医学中心，首都医科大学附属北京儿童医院新生儿外科，北京 100045
- Keywords:
Mowat-Wilson syndrome;
Hirschsprung′s disease;
Vaginal atresia
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(23):1822-1824
- CountryChina
- Language:Chinese
-
Abstract:
Clinical phenotypes and gene characteristics of a patient diagnosed with Mowat-Wilson syndrome (MWS) with Hirschsprung′s disease (HSCR) and vaginal atresia in the Department of Neonatal Surgery, Beijing Children′s Hospital, Capital Medical University in March 2021 were analyzed retrospectively.The eight-month-old girl was admitted to the hospital with symptoms of constipation for nine days and abdominal distension for two days.Lower digestive tract radiography and rectal mucosa biopsy results suggested HSCR.The child also had specific facial features and motor development delay.Whole exome test showed a de novo heterozygous mutation, ZEB2 gene c. 2761C>T (p.R921*). After laparoscopic-assisted Soave procedure, the child had normal bowel movements, and no surgery-related compli-cations occurred during the follow-up period.The child′s motor development improved after rehabilitation treatment.According to literature review, 2 female cases show similar clinical manifestations to this girl, but the genotypes were different.This patient expands the clinical phenotype of ZEB2 gene pathogenicity.
