Definitive ileostomy in total colonic aganglionosis: Results and considerations from a single-center experience

Total Colonic and Small Bowel Aganglionosis (TCSA) is a severe form of Hirschsprung Disease (<10 % of cases). Surgical gold standard is Pull-Through (P-T) procedure. After P-T, in selected cases, an unplanned ileostomy could be required to cope with poor bowel control. Aim of this study is to investigate unplanned ileostomies in TCSA.

A retrospective observational cohort study was performed. Charts of all TCSA patients admitted between 2017 and 2025 were reviewed. Patients requiring an unplanned ileostomy were identified. Data regarding clinical features, surgical management and outcomes before and after stoma fashioning were collected.

Twelve percent (8/69) of TCSA patients required an unplanned ileostomy; 6(6/8,75 %) had a syndrome with intellectual disability (ID). Considering the entire cohort, all patients with Down Syndrome (5/5) and 50 %(1/2) of patients with Mowat-Wilson required an ileostomy. Median age at ileostomy was 9.3 (IQR 6.75) years. Seven patients (87.5 %) required an ileostomy due to a severe perineal rash, one to treat a sever Crohn-like ileitis. ID was significantly associated with ileostomy at univariate and multivariate analysis (OR respectively 105 and 48, p < 0.001).All patients with ID and 50 % of those without ID did report complete symptoms resolution after ileostomy fashioning.

This is the first study quantifying and investigating the causes of unplanned ileostomies in TCSA. ID is a major risk factor for an unplanned ileostomy. An exhaustive counseling should be given to parents of patients with syndromic ID, emphasizing a considerable probability of a potentially definitive ileostomy and the uselessness of a P-T.