Total colonic aganglionosis in children: clinical manifestations, diagnosis, treatment and outcome

Zhenyu ZHANG; Jing SUN; Jinping HOU; Qingshuang LIU; Wei LIU; Xiaoqing LI; Yi WANG

doi:10.16016/j.1000-5404.202006057

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Total colonic aganglionosis in children: clinical manifestations, diagnosis, treatment and outcome

Pediatric Clinical reseach | 更新时间：2026-01-09

- Total colonic aganglionosis in children: clinical manifestations, diagnosis, treatment and outcome
- Journal of Third Military Medical University Vol. 42, Issue 22, Pages: 2182-2189(2020)
- 作者机构：
  
  400014 重庆，重庆医科大学附属儿童医院胃肠新生儿外科；儿童发育疾病研究教育部重点实验室；国家儿童健康与疾病临床医学研究中心；儿童发育重大疾病国家国际科技合作基地
- 作者简介：
- 基金信息：
  
  the Natural Science Foundation of Chongqing(CSTC 2018jcyjAX0230);the Joint Project for Medical Scientific Research of Chongqing (Science and Technology Commission and Chongqing Health Commission(2019ZDXM021)
- DOI：10.16016/j.1000-5404.202006057
  CLC： R181.32;R725.746.2
- Received：08 June 2020，
  
  Revised：2020-08-31，
  
  Published：30 November 2020
- 稿件说明：
移动端阅览
Zhenyu ZHANG, Jing SUN, Jinping HOU, et al. Total colonic aganglionosis in children: clinical manifestations, diagnosis, treatment and outcome[J]. Journal of Third Military Medical University, 2020, 42(22): 2182-2189.
DOI：

Zhenyu ZHANG, Jing SUN, Jinping HOU, et al. Total colonic aganglionosis in children: clinical manifestations, diagnosis, treatment and outcome[J]. Journal of Third Military Medical University, 2020, 42(22): 2182-2189. DOI： 10.16016/j.1000-5404.202006057.

摘要

目的

探讨儿童全结肠无神经节细胞症(total colonic aganglionosis

TCA)的临床特点及诊治要点。

方法

回顾性分析从2010年1月至2018年6月确诊的41例全结肠无神经节细胞症患儿的病例资料。

结果

① 本组病例共41例，其中男性31例，女性10例。②临床表现以腹胀(90.2%)、胎便排出延迟(82.9%)、呕吐(65.9%)及便秘(63.4 %)为主，与其他类型肠无神经节细胞症临床表现比较无显著性差异(

0.05)。③本组33例患儿术前行了钡剂灌肠造影检查，其中仅7例(21.2%)提示TCA，但32例可见钡剂排空延迟及小肠明显扩张。术前行肛管直肠测压，阳性率71.4%；行直肠黏膜活检，阳性率100%。④本组38例接受手术，其中25例行巨结肠根治术治愈，21例治愈患儿获得随访。术中见肠管形态改变情况:7例(18.4%)仅末端回肠痉挛；5例(13.2%)仅全段结肠痉挛；24例(63.2%)全段结肠及末端回肠均痉挛；2例(5.3%)全段结肠及末端回肠外观无异常。术后病理结果均证实为TCA。根治术后主要并发症为小肠结肠炎(47.6%)；治愈病例中14例参与生活质量评分，其中生活质量为优的有10人(71.4%)，为良的有4人(28.6%)。

结论

全结肠无神经节细胞症临床诊断较为困难，钡剂灌肠在一定程度上可提示该病，结合手术探查及病理检查可确诊该病，通过手术及术后规范化治疗，远期预后良好。

Abstract

Objective

To explore the clinical features

diagnosis and treatments of total colonic aganglionosis(TCA) in children.

Methods

We retrospectively analyzed the clinical data of 41 children with TCA (including 31 boys and 10 girls)

who were diagnosed and treated in our department between January 2010 and June 2018.

Results

The clinical manifestations of the 41 children with TCA included abdominal distention (90.2%)

defecation delay (82.9%)

vomiting (65.9%) and constipation (63.4%)

showing no significant differences from those seen in other types of Hirschsprung's disease (

0.05). Thirty-three of the children received barium enema before operation

and the results suggested TCA in only 7 (21.2%) children; delayed barium emptying and marked small intestinal distension were observed in 32 of the children. Preoperative anorectal manometry showed a positive rate of 71.4%

and the positive rate of rectal mucosal biopsy was 100% in these children. Thirty-eight of the children underwent surgeries and 25 were cured after the operation. Twenty-one of the surgically cured children were followed up. The intraoperative findings

of the intestines revealed terminal ileum stenosis in 7 (18.4%) children

total colonic stenosis in 5 (13.2%) children

terminal ileum and total colonic stenosis in 24 (63.2%) children

and no obvious stenosis in the ileum or the colon in 2 (5.3%) children. Postoperative pathological results supported the diagnosis of TCA in all the surgically treated cases. Enterocolitis (47.6%) was the major complication after radical surgery. Fourteen of the children were evaluated for quality of life score

and 10(71.4%) of them reported excellent and 4(28.6%) reported good quality of life.

Conclusion

The clinical diagnosis of TCA is difficult

and barium enema has only a limited diagnostic value. A definite diagnosis of TCA can be established by surgical exploration combined with pathological examination. Surgical intervention and standardized postoperative treatment can achieve good long-term outcomes in the children with TCA.

关键词

Keywords

references

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