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

BackgroundThe aim of this study was to evaluate the nationwide outcome of children with total colonic aganglionosis (TCA) during the last 20 years.MethodsThis was an observational, cross-sectional study where all patients with 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.ResultsTwenty-seven children were included. Twenty-five children were reconstructed at median age of 56 (4-236) weeks. Reconstruction procedures included Swenson (6), Soave (5), mucosectomy with 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 > 4 years old completed the BFS questionnaire at median age of 10 (4-20) years. Median stool frequency/24 h was 5 (1-30). Fecal accidents at least once per week was reported by 4 (24%), and social problems by 8 (47%). The median BFS was 15 (11-19) without any gender differences.ConclusionOne-third of patients with 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.