Perils of Total Colonic Aganglionosis Presenting in Neonatal Age

Abstract

Background: The purpose of this study is to review the cases of total colonic aganglionosis seen in the span of ten years at a pediatric surgery unit of a tertiary care public hospital in New Delhi.Methods: Medical records of eleven patients with total colonic aganglionosis were retrieved.Results: Ten out of the twelve patients were males; seven were of the Muslim community. Average recorded birth weight was 2.2 kg. Ten patients presented with features of intestinal obstruction, while two presented with perforation peritonitis. Among the cases of obstruction, Hirschsprung's disease was suspected in eight cases (one was associated with Shah-Waardenburg syndrome), one case each was preoperatively diagnosed as ileal atresia and meconium ileus. Abdominal X-rays at presentation of all the neonates except in one with Shah-Waardenburg syndrome showed multiple air fluid levels. Contrast enema was done in five patients. It showed micro-colon in two patients, and typical question mark sign, dilated small bowel with transition zone in hepatic flexure and normal caliber colon in one each. All the patients underwent exploratory laparotomy. Intra-operatively, the transition zone was seen at distal ileum in ten cases and at hepatic flexure and transverse colon in one each. Biopsies of all the twelve patients eventually showed absence of ganglion cells in entire colon. Ileostomy was done in nine cases, colostomy in two and primary Kimura's procedure in one (this patient was discharged and lost to follow up). Left colonic patch with Swenson’s pull through with ileostomy was done for one patient on colostomy. His stoma was closed; he was eventually discharged and lost to follow up. In the other patient with colostomy, the stoma was closed and an ileostomy was created. Of all the patients on ileostomy, three expired in the immediate postoperative period. Four were lost to follow up. Two underwent Kimura's procedure; and expired few months later. One patient on ileostomy is awaiting further treatment.Conclusion: Management of total colonic aganglionosis is still in its infancy in the developing world. There is a lot of scope for improvement in the management. There is a need to have a stringent follow up of patients in order to know the long-term outcomes of the disease.