Permanent enterostomy in Hirschsprung disease: can we predict which patients are at risk?

Permanent enterostomy in patients with Hirschsprung disease (HD) is usually never on the mind of a pediatric surgeon. It is uncommon but represents an important long-term outcome. Although disease segment length is a recognized risk factor, the factors influencing permanent diversion beyond disease extent are not well defined. The aim of this study was to characterize patients requiring permanent enterostomy and to identify clinical, surgical, and patient-centered factors contributing to this outcome.

We conducted a retrospective cohort study of patients with HD treated at a tertiary pediatric colorectal center between January 2008 and March 2026. Patients with permanent enterostomy were identified, and details on factors contributing to the primary outcome were analyzed. These included HD segment length, syndromic HD, neurodevelopmental or behavioral comorbidities, operative history, and family/patient preference for permanent diversion. Data were analyzed descriptively to characterize the cohort and identify patterns associated with permanent enterostomy.

Among 289 patients with HD disease, 18 (6.2%) required permanent enterostomy. Long-segment or total colonic aganglionosis (TCA) was present in 11 patients (61.1%) and was a significant risk factor; however, permanent diversion also occurred in 5 patients (27.8%) with short-segment disease. All patients had at least one contributing factor, and 10 (55.6%) had two or more, including syndromic disease (n =  10,55.6%), neurodevelopmental comorbidity (n = 10,55.6%), operative failure of reconstruction (n =  10,55.6%, and patient- or family-driven preference (n = 633.3%).

Permanent enterostomy in HD reflects the combined effects of disease segment length, comorbidity burden, neurodevelopmental factors, and catastrophic complications following reconstructive surgery, as well as patient-centered decision-making, rather than any single determinant. Early multidisciplinary evaluation and recognition of cumulative risk factors may support improved counseling, expectation setting, and individualized care planning for patients and families.