Long-term clinical outcome in patients with total colonic aganglionosis: a 31-year review

Background: The purpose of this study is to review the long-term clinical outcome in patients surgically treated for total colonic aganglionosis (TCA). Methods: The hospital records of 58 patients with TCA from 2 centers were retrospectively analyzed. These patients were then followed up by personal or telephonic interviews using a standardized questionnaire. Results: Of the 58 patients, 36 were male and 22 were female. Thirty-eight patients presented in the neonatal period. A total of 13 (22.4%) presented with enterocolitis, 43 (74.1%) with intestinal obstruction, and 2 (3.5%) with severe constipation. All patients had disease involving the entire colon up to at least the terminal ileum. Two patients had total intestinal aganglionosis and died after ileostomy. Various pull-through procedures performed in 56 patients included Soave in 16, Swenson in 5, and Duhamel in 35 patients. Postoperatively, 31 (55.4%) patients had enterocolitis. At long-term follow-up (2-31 years), 3 patients had opted for permanent ileostomies because of intractable incontinenece or recurrent enterocolitis. Eleven patients were too young to assess bowel function or unavailable for follow-up. Of the remaining 42 patients, 22 had normal bowel control and 20 were soiling. At 5 years, patients had an average of 5.2 bowel movements per day, which reduced to a mean of 3.4 per day at the age of 15 years. Conclusion: Patients with TCA continue to have long-term problems with bowel control, although many improve with time.