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

Background/Purpose: Although the survival rate for the infants with total colonic aganglionosis (TCA) has improved significantly, problems with the surgical management continue and the long-term consequences for growth and continence are poorly documented. The aim of this study was to review the experience in the management of 48 patients over a 17-year period (1980 to 1996).

Methods: The medical records of all patients were analyzed with particular emphasis on the number and type of surgical procedures, the attainment of anorectal 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 Moebius syndrome and brain stem dysfunction. Forty-one patients (85%) went on to undergo a pull-through procedure: 38 Duhamel with 13 having Martin modification and three with Soave procedure. Inappropriate surgery (47 procedures) were carried out in 19 (40%) patients before the definitive diagnosis; only four of these infants were admitted primarily to our unit. Thirteen patients had a stoma in aganglionic intestine. An ileostomy was closed in six infants before the diagnosis was established, and six had a previous “negative” 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 permanent stoma was necessary in six patients (two with Down's syndrome). Two patients with Martin modification required resection of the side-to-side anastomosis for intractable diarrhea. The number of the stools per day decreased yearly. Fecal incontinence was common at the 5-year follow up (82%). However, at 10 and 15 years, the rate of incontinence decreased to 57% and 33%, respectively. The proportion of patients below the second percentile for body 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%, respectively.

Conclusions: Patients with TCA tend to undergo multiple procedures. Anorectal function improves gradually over time. There are no advantages of the Martin 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 patients with TCA.