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Rectal biopsy for Hirschsprung’s disease: a review of techniques, pathology, and complications

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Abstract

Background

Hirschsprung’s disease (HD) is one of the most common congenital anomalies of colorectal function, affecting approximately 1 in 5000 live births, with a 4:1 male predominance. HD is characterized by aganglionosis that is most often limited to the rectosigmoid, but can extend proximally along the colon and, in rare instances, reach into the small intestine. A clinical history of delayed passage of meconium beyond 48 hours after birth, physical exam findings of abdominal distention and vomiting, and a contrast enema demonstrating a transition zone are highly suggestive of HD.

Data sources

We searched databases including PubMed, Google Scholar, and Scopus for the following key words: Hirschsprung’s disease, rectal biopsy, pathology, ganglion cell, nerve trunk hypertrophy, pediatric constipation, and selected publications written in English that were relevant to the scope of this review.

Results

Based on the data presented in the literature, we reviewed 1) biopsy techniques for the diagnosis of Hirschsprung’s disease, addressed inadequate biopsies, and complications from rectal biopsy, and 2) pathologic and histologic interpretation of biopsy specimens for the diagnosis of Hirschsprung’s disease.

Conclusion

A well-executed rectal biopsy with expert pathologic evaluation of the specimen remains the gold standard for the diagnosis of Hirschsprung’s disease and is the subject of this review.

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Authors and Affiliations

  1. Section of Pediatric Surgery, Department of Surgery, Yale University School of Medicine, New Haven, CT, USA

    Eleanor Dorothy Muise & Robert Anthony Cowles

  2. Section of Pediatric Surgery, Yale University School of Medicine, 333 Cedar Street, FMB 131, PO Box 20862, New Haven, CT, 06520, USA

    Robert Anthony Cowles

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  1. Eleanor Dorothy Muise
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Correspondence to Robert Anthony Cowles.

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Muise, E.D., Cowles, R.A. Rectal biopsy for Hirschsprung’s disease: a review of techniques, pathology, and complications. World J Pediatr 12, 135–141 (2016). https://doi.org/10.1007/s12519-015-0068-5

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  • DOI: https://doi.org/10.1007/s12519-015-0068-5

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