Neonatal Intestinal Perforations: When Should We Perform a Rectal Biopsy to Rule Out Hirschsprung's Disease?

Intestinal perforation (IP) is one of the most critical surgical emergencies in neonates. It most often occurs in premature infants, with necrotizing enterocolitis (NEC) as the leading cause. Hirschsprung's disease (HD) is another important etiology. In this study, we aimed to investigate the frequency of HD among neonates with non-NEC IP and assessed the value of performing rectal biopsy in these patients.

Neonates who were treated for non-NEC IPs between 2005 and 2021 were evaluated retrospectively. Demographic data, clinical features, operative details, and rectal biopsy results were collected. These features were compared according to the histopathological results of rectal biopsy (aganglionic versus ganglionic).

Rectal biopsies were performed in 48 neonates with non-NEC IP (33 preterm [68.8%], 15 term [31.2%]). The most common perforation site was the ileum (52.4%). Rectal biopsy revealed aganglionosis in 12.5% of the patients. Gestational age was higher in aganglionic than ganglionic cases (36.7 versus 32.5 weeks; P = .026). The perforations were colonic in all aganglionic cases (n = 6) and 47.6% (n = 20) of the ganglionic cases (P = .025).

This study highlights the importance of considering HD in the differential diagnosis of neonatal IPs. Rectal biopsy should be considered in non-NEC perforations; particularly in term (or near-term) neonates and in cases of colonic perforation, to help identify underlying aganglionosis and guide timely management.

Level 3 b.