Near-total intestinal aganglionosis: long-term follow-up of a morbid condition

The aim of this study was to understand the long-term outcome of near-total intestinal aganglionosis (NTIA).

The study was an institutional review of all patients with NTIA between 1974 and 1999, inc!usive. Seven full-term babies were identified (4 boys, 3 girls). Mean birth weight was 3.2 kg (range, 2.7 to 4.1). Patients included 1 pair of siblings and 1 Down's syndrome baby. All 7 had obstruction within 5 days of life. One patient experienced bowel perforation. All 7 had NTIA diagnosed within the first 2 months of life. In 2 of 7, aganglionosis began 10 cm distal to the ligament of Treitz (LOT). The longest segment of normal small bowel was 130 cm from the LOT. Five of 7 babies underwent a stoma between day of life (DOL) 1 and 15.

Two of three "long-term" survivors (>2 years) had corrective surgery by 13 months. The first received extended jejuno-ileal myotomy and myectomy with multiple postoperative problems. She died at 8 years of age of complications of total parenteral nutrition (TPN). The second underwent myotomy, resection and patch graft to jejunum, and several jejunostomy revisions. All of the involved bowel eventually was resected. The 3 of 7 who lived more than 1 year all took some nutrition orally. Three died, between 3 months and 8 years of age, of complications of TPN. There are 2 survivors at 3 and 7 years of age. Survival has not correlated with the length of aganglionic bowel.

Aganglionosis involving most of the bowel has a high morbidity and mortality rate. Since 1990 a more aggressive surgical approach has resulted in improved survival rates but with significant morbidity. For children surviving beyond 3 months of age, outcome was less dismal. Some patients may benefit from extended jejunal myotomy or myectomy. However, postoperative complications are the rule, not the exception.