瓦登伯格综合征合并先天性巨结肠或其同源病3例并文献复习

Waardenburg syndrome with Hirschsprung's disease or its allied disorders:a report of three cases with a review of literature

目的分析Ⅳ型瓦登伯格综合征患儿及其合并的肠道问题(先天性巨结肠或其同源病)的外科治疗情况, 提高对此综合征的认识。方法华中科技大学同济医学院附属同济医院小儿外科分别于2017年6月、2019年4月及2020年6月收治了3例Ⅳ型瓦登伯格综合征患儿, 年龄分别为9个月、6个月和1岁8个月。收集患儿的相关资料, 分析其临床特征及肠道问题的外科治疗方法。同时以"瓦登伯格综合征"或"Waardenburg Syndrome""先天性巨结肠"或"Hirschsprung’’s disease"为关键词, 分别检索中国知网、万方医学及PubMed数据库。从文献中提取案例的相关信息, 包括性别、基因突变位点及突变类型、作者及国籍、发表年份以及合并的先天性巨结肠或先天性巨结肠同源病类型等。结果病例1合并长段型先天性巨结肠, 术后排便功能良好, 但是有反复发作小肠结肠炎情况。病例2为短段型先天性巨结肠同时合并巨结肠同源病(神经节细胞减少症), 术后排便功能良好。病例3合并巨结肠同源病(神经节细胞减少症), 术后排便功能良好。通过文献检索, 共检索到明确报道基因突变类型的文献37篇, 包括55例Ⅳ型瓦登伯格综合征患儿。结论对瓦登伯格综合征合并的先天性巨结肠的外科治疗原则为在仔细的术前评估前提下彻底切除无神经节细胞的肠段。

Objective To explore the surgical approaches of children with typeⅣVardenberg syndrome and their associated intestinal problems(Hirschsprung's disease or its allied disorders)and to improve the understanding of this syndrome.Methods Three children with typeⅣVardenberg syndrome,aged 9 months,6 months and 20 months,were admitted in June 2017,April 2019 and June 2020 respectively.The relevant data were collected and their clinical features and surgical approaches of intestinal problems were analyzed.At the same time,the databases of China National Knowledge Infrastructure,WanFang Medicine and PubMed were searched with such keywords as"Waardenburg syndrome"or"Hirschsprung's disease"respectively.The relevant profiles were extracted from the literature,including gender,gene mutation site,mutation type,author,nationality,publication year and combined Hirschsprung's disease or its allied disorders.Results Case 1 of recurrent enterocolitis was associated with long-segment Hirschsprung's disease and had good postoperative defecation function.Case 2 had short segment Hirschsprung's disease along with ganglionopenia and good postoperative defecation function.Case 3 had hypoganglionosis and had good defecation function after surgery.Through literature searching,a total of 37 articles definitely reporting the type of gene mutation were retrieved,including 55 children with typeⅣWaardenburg syndrome.Conclusions The surgical principle of Hirschsprung's disease associated with Waardenberg syndrome is complete resection of aganglionic intestinal segments under the premise of careful preoperative evaluations.