A Modified Rectal Mucosal Biopsy for the Diagnosis of Hirschsprung's Disease: Zaria Experience

Full-thickness rectal biopsy is often used for the diagnosis of Hirschsprung's disease (where a suction biopsy kit is not available). This is associated with some challenges such as limited theatre space and the need for general anaesthesia. We aim to highlight the usefulness and sensitivity of a modification of the rectal mucosal biopsy without general anaesthesia in the diagnosis of Hirschsprung's disease.

This is a retrospective analysis of children with Hirschsprung's disease who had rectal mucosal biopsy over a 16-year period (January 2004-December 2019). Research was approved with institutional number ABUTHZ/HREC/H22/2022. The patients had the biopsy with small, curved artery forceps, surgical blade, and dissecting scissors. Histological analyses of tissue were done. Clinical data and results were recorded on a structured pro forma, and the data were analysed.

There were 263 boys and 97 girls with a median age of 10.5 months. Only 37 (10.3%) of the rectal biopsies were done by consultants. Hirschsprung's disease was confirmed in 279 (75.5%) of the partial-thickness biopsies, whereas 52 (14.4%) biopsies were inadequate specimens. Resident doctors were responsible for 92.2% (47) of inadequate biopsies (P = 0.63), although they did 89.7% of all biopsies. In one (0.3%) patient, the procedure ended as a full-thickness biopsy leading to a significant haemorrhage that required blood transfusion.

The modified rectal mucosal biopsy is a simple, safe, and effective method for making the diagnosis of Hirschsprung's disease. This is performed without general anaesthesia and is useful where a suction biopsy kit is unavailable.