Necrotizing enterocolitis in full-term neonates: is it aganglionosis?

While NEC is primarily a disease of prematurity, full-term infants account for approximately 10% of cases. The aim of this study was to highlight the association of Hirschsprung's disease and NEC in full-term babies which, as far as we could ascertain, has not been reported before.

A retrospective study of all surgically treated neonates presenting with NEC from November 1999 to January 2007 was performed. A total of 20 surgically managed neonates presented with NEC during the study period. Three were excluded from the study because they underwent other treatments. Patients were divided into 2 groups: Group 1 consisted of pre-term neonates with weights below 2400 g and Group 2 consisted of full-term neonates with a weight above 2400 g. Nine out of 17 were in Group 2. Peritoneal drain and proximal diversion ileostomy in the most viable part of intestine was done in the neonatal intensive care unit (NICU). Rectal biopsy was taken from 7 out of 9 in Group 2 and from one presenting with cecal perforation in Group 1. Full thickness open rectal biopsy (H&E staining) was the definitive procedure for diagnosis until 2000, when AChE staining began to be used. Duhamel's pull-through was the procedure of choice for neonates with a positive rectal biopsy.

Aganglionosis was found in 4 of 7 rectal biopsies in patients weighing more than 2400 g (Group 2). One died at home while waiting for definitive surgery. Duhamel's pull-through was performed for the rest. Altogether 3 patients died (17.6%). The survivors are developing normally, only one has exhibited retarded growth. One infant suffered from cholestatic jaundice.

Our results support the suspicion that a large proportion of term neonates presenting with NEC have long segment or total colonic Hirschsprung's disease. This observation is in contrast to the currently available literature on this problem from the last decade.