Enterocolitis and bowel function in children with Hirschsprung disease and trisomy 21
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Updated: Mar 14, 2026
Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Natasha Kwendakwema1, Ragheed Al-Dulaimi2, Angela P Presson2
1University of Utah School of Medicine, 30 N 1900 E, Salt Lake City, UT 84132, USA.
Insights
Children with Hirschsprung disease (HD) and trisomy 21 (T21) have similar enterocolitis rates and bowel function compared to those with HD alone. Consistent postoperative follow-up is crucial for managing constipation in these patients.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Genetics
Background:
- Hirschsprung disease (HD) is a congenital condition affecting the large intestine.
- Trisomy 21 (T21), or Down syndrome, is a genetic disorder that can be associated with HD.
- Enterocolitis is a serious complication in patients with HD.
Purpose of the Study:
- To investigate the impact of trisomy 21 on the incidence of enterocolitis in children with Hirschsprung disease.
- To evaluate bowel function, including toilet training and constipation, in children with HD and T21 compared to those with HD alone.
Main Methods:
- Retrospective cohort study of patients with HD treated between 2000-2015.
- Inclusion of patients from a tertiary children's hospital and a pediatric colorectal center (CRC).
- Analysis of enterocolitis episodes, hospitalizations, toilet training, and constipation management.
Main Results:
- 13% of HD patients had T21.
- Enterocolitis rates were not significantly different between HD patients with and without T21 (41% vs 38% and 58% vs 36%).
- Toilet training and constipation management showed no significant differences between groups, though most CRC patients required therapy for constipation.
Conclusions:
- Trisomy 21 does not significantly alter enterocolitis rates or bowel function in children with Hirschsprung disease.
- Constipation is a common issue requiring ongoing management in patients with HD, highlighting the need for consistent postoperative care.
- Further research may explore specific interventions for constipation in HD patients with T21.
Background/Purpose:
The purpose of this study was to study the effect of trisomy 21 (T21) on enterocolitis rates and bowel function among children with Hirschsprung disease (HD).
Methods:
A retrospective cohort study of patients with HD treated at our tertiary children's hospital (2000-2015) and a cohort of patients with HD treated in our pediatric colorectal center (CRC) (2011-2015) were performed.
Results:
26/207 (13%) patients with HD had T21. 70 (41%) with HD alone were diagnosed with enterocolitis episodes compared to 9 (38%) with HD+T21 (p=0.71). 55/207 patients were managed in the CRC. 11/55 patients (20%) had HD+T21. 25 (58%) with HD had one or more enterocolitis episodes compared to 4 (36%) with HD+T21 (p=0.20). Number of hospitalizations for enterocolitis was similar between all groups. Toilet training was assessed in 32 CRC patients (25 HD, 7 HD+T21). One child with HD+T21 was toilet trained by age 4years versus 12 with HD (p=0.20). Laxative or enema therapy was required for constipation management in 57% HD versus 64% HD+T21.
Conclusion:
Enterocolitis rates in children with HD+T21 did not differ from rates in children with HD alone. The majority of patients with CRC follow-up had constipation requiring laxative or enema therapy, which demonstrates the need for consistent postoperative follow-up.
Level Of Evidence:
Retrospective Study - Level II.
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