# Beyond Hirschsprung: outcomes of symptomatic infants after exclusion of Hirschsprung disease on rectal suction biopsy

## TL;DR

This study examines the long-term outcomes of infants with defecation issues who tested negative for Hirschsprung disease, finding that most improve without treatment.

## Contribution

The study provides new insights into the natural history of infants with excluded Hirschsprung disease and their long-term gastrointestinal outcomes.

## Key findings

- Most infants with excluded Hirschsprung disease no longer needed treatment at last follow-up.
- A minority continued to require laxatives or suppositories for ongoing gastrointestinal symptoms.
- A few patients were later diagnosed with other gastroenterological conditions.

## Abstract

Rectal suction biopsies (RSB) to exclude Hirschsprung disease (HD) are performed on a low threshold in infants with defecation problems. This leads to a significant number of symptomatic infants with excluded HD. We intend to characterize them and provide a perspective on their clinical outcome.

A retrospective chart review was performed in 90 infants who underwent RSB at our institution from 2011 to 2022. In 54 infants, HD was excluded. Thirty one of those infants met the inclusion criteria and were further analyzed.

Treatment was initiated prior to biopsies with rectal irrigations in 71% (n = 22), suppositories in 3% (n = 1), oral laxatives in 23% (n = 7), and dietary modifications in 3% (n = 1). At last follow-up, 81% (n = 25) of patients had no further need for treatment, and 19% still regularly used oral laxatives or suppositories (n = 6). In three patients, another gastroenterological diagnosis was found. Four patients were re-referred to the gastroenterological clinic later in childhood.

Defecation problems in early infancy will resolve in most patients with excluded HD without any further treatment. However, some patients will continue to have gastrointestinal symptoms and may need to take laxatives long-term.