Management and long-term follow-up of infants with total colonic aganglionosis

Background/Purpose: Although the survival rate for the infants with total c olonic aganglionosis (TCA) has improved significantly, problems with the su rgical management continue and the long-term consequences for growth and co ntinence are poorly documented. The aim of this study was to review the exp erience in the management of 48 patients over a 17-year period (1980 to 199 6). Methods. The medical records of all patients were analyzed with particular emphasis on the number and type of surgical procedures, the attainment of a norectal continence, number of stools per day, and physical development. Results: There were 30 boys and 18 girls. Three (6%) patients died: one of sepsis, one of associated major congenital cardiac anomaly, and one of Moeb ius syndrome and brain stem dysfunction. Forty-one patients (85%) went onto undergo a pull-through procedure: 38 Duhamel with 13 having Martin modific ation and th ree with Soave procedure. Inappropriate surgery (47 procedures ) were carried out in 19 (40%) patients before the definitive diagnosis; on ly four of these infants were admitted primarily to our unit. Thirteen pati ents had a stoma in aganglionic intestine. An ileostomy was closed in six i nfants before the diagnosis was established, and six had a previous "negati ve" laparotomy. Long-term follow-up was possible in 27 patients, of whom 19 (70%) required a total of 39 additional procedures. Ten patients underwent a total of 16 anal dilatations and six underwent sphincterotomy. A permane nt stoma was necessary in six patients (two with Down's syndrome). Two pati ents with Martin modification required resection of the side-to-side anasto mosis for intractable diarrhea. The number of the stools per day decreased yearly. Fecal incontinence was common at the 5-year follow up (82%). Howeve r, at 10 and 15 years, the rate of incontinence decreased to 57% and 33%, r espectively. The proportion of patients below the second percentile for bod y weight were 25% at 5 years, 20% at 10 years, and 63% at 15 years of age. The equivalent statistics for body height were 15%, 0%, and 23%, respective ly. Conclusions: Patients with TCA tend to undergo multiple procedures. Anorect al function improves gradually overtime. There are no advantages of the Mar tin modification. In the long-term follow-up over half of the patients are below the second percentile for weight and one quarter are below the second percentile for height. Careful long-term Follow-up is necessary for the pa tients with TCA. J Pediatr Surg 34:158-162. Copyright (C) 1999 by W.B. Saun ders Company.