Patient-reported Swedish nationwide outcomes of children and adolescents with total colonic aganglionosis

Background: The aim of this study was to evaluate the nationwide outcome of children with total colonic aganglionosis (TCA) during the last 20 years. Methods: Thiswas an observational, cross-sectional studywhere all patientswith TCA, including aganglionosis of 0-50 cm of ileum, born in Sweden 1995-2014 were included. Data were collected from the medical records. Patients >4 years old without stoma answered a questionnaire regarding bowel function (bowel function score, BFS, score 1-20), medical treatment and nutrition. Results: Twenty-seven children were included. Twenty-five children were reconstructed at median age of 56 (4-236) weeks. Reconstruction procedures included Swenson (6), Soave (5), mucosectomywith short muscular cuff with or without J-pouch (9), Duhamel (3) and Rehbein (2). There was no mortality. The median follow-up time was 9.5 years (8 months-20 years). At follow-up 7 (26%) patients had an ileostomy, 4 with a syndrome. Eight patients required parenteral support, until a median age of 11 (2-24) months. Oral energy support was used by 5/27 (15%), still 5/22 (23%) were underweighted. Obstructive symptoms were reported by 7/20 (31%). All 17 patients N4 years old completed the BFS questionnaire at median age of 10 (4-20) years. Median stool frequency/24 hwas 5 (1-30). Fecal accidents at least once perweek was reported by 4 (24%), and social problems by 8 (47%). The median BFS was 15 (11-19) without any gender differences. Conclusion: One-third of patientswith TCA report obstructive symptoms, one-third need additional nutrition and one-fifth require a permanent stoma. TCA have a negative impact on social life. Subsequently, children with TCA need a careful lifelong follow-up of specialized teams. (C) 2017 Published by Elsevier Inc.