Experience with full-thickness rectal biopsy in the evaluation of patients with suspected Hirschsprung’s disease

Abstract

Background and purpose Rectal biopsy is the main modality for the diagnosis of Hirschsprung’s disease (HD). In Africa, transanal full-thickness rectal biopsy is commonly performed. We aimed to audit our practice of rectal biopsy in the evaluation of HD.
Materials and methods A retrospective review was carried out of the records of children (r15 years) who were evaluated for HD between 2007 and 2011. Clinical presentation, details of the operation, and histologic result were analyzed using SPSS version 15.0.
Results Fifty-seven children were evaluated for suspected HD during the period. Thirty-six children underwent a rectal biopsy. There were 29 (80.6%) males and nine (19.4%) females, of which two were preterm. Neonates and infants accounted for 72.2% (n= 26). The median age at biopsy was 90 days (range, 5 days to 9 years). Delayed passage of meconium was present in 64.7%, constipation in 85.7%, abdominal distension in 88.6%, and bilious vomiting in 55.9%. Thirty biopsies (83.3%) yielded a histologic diagnosis. Twenty-six (72.2%) confirmed HD, whereas four (11.1%) yielded normal rectal histology. In six (16.7%), the sample taken was deemed inadequate for opinion. None of the symptoms assessed was associated significantly with a diagnosis of HD, stalling further analysis. Where a single biopsy was taken, 20% (n =5) were inadequate for analysis; where more than one sample was taken, a histologic diagnosis was possible in 100% (n =11). Consultant surgeons and trainees returned inadequate samples in 15.8% (n= 3) and 12.5% (n= 2), respectively. An inadequate sample was obtained in four infants (15.4%) and one child older than 1 year of age (10%). Distance of biopsy from the dentate was not indicated in 63.9% (n= 23).
Conclusion No clinical parameter can accurately predict a diagnosis of HD. More than one sample at a sitting may improve the diagnostic yield. Larger prospective studies are needed to confirm these findings.

Keywords: full-thickness biopsy, Hirschsprung’s disease, rectal biopsy