Mowat-Wilson综合征伴先天性巨结肠、阴道闭锁1例并文献复习

Mowat-Wilson syndrome with Hirschsprung′s disease and vaginal atresia:case report and literature review

对2021年3月首都医科大学附属北京儿童医院新生儿外科收治的1例Mowat-Wilson综合征(MWS)合并先天性巨结肠(HSCR)、阴道闭锁患儿的临床特征及基因特征进行回顾性分析。患儿,女,8月龄,以"便秘9 d,腹胀2 d"为主诉就诊,下消化道造影及直肠黏膜活检结果均提示HSCR,且存在特殊面容及运动发育落后。全外显子组检测示:ZEB2基因c.2761C>T(p.R921*)杂合突变,为自发性突变。行腹腔镜辅助经肛改良Soave根治术后患儿排便正常,随访期间未出现手术相关并发症。经康复治疗后患儿运动发育改善。文献复习发现2例女性病例,临床表现与本例患儿相似,但基因型不同。本病例拓展了ZEB2基因致病临床表型谱。

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.