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. 2023 Aug 31;10(9):1488.
doi: 10.3390/children10091488.

Rectal Biopsy for Hirschsprung's Disease: A Multicentre Study Involving Biopsy Technique, Pathology and Complications

Affiliations

Rectal Biopsy for Hirschsprung's Disease: A Multicentre Study Involving Biopsy Technique, Pathology and Complications

Gil Vervloet et al. Children (Basel). .

Abstract

Background: The heterogeneity of rectal biopsy techniques has encouraged us to search for a surgical and pathological standardisation of this diagnostic technique to exclude Hirschsprung's disease. The different amounts of information on the anatomopathology report prompted us to compile a template for the anatomopathology report for diagnostic rectal biopsies for surgical colleagues and pathologists working on Hirschsprung's disease.

Methods: We gathered the anonymous biopsy information and its pathology information from five hospitals for all patients in which rectal biopsies were taken to diagnose Hirschsprung's disease over two years (2020-2021).

Results: Of the 82 biopsies, 20 suction (24.4%), 31 punch (37.8%) and 31 open biopsies (37.8%) were taken. Of all biopsies, 69 were conclusive (84.2%), 13 were not (15.8%). In the suction biopsy group, 60% were conclusive and 40% were not; for punch biopsy, the values were 87% and 13%, respectively and for open biopsy, 97% and 3%. Inconclusive results were due to insufficient submucosa in 6/8 suction biopsies, 4/4 punch biopsies and 0/1 open biopsies. An insufficient amount of submucosa was the reason for an inconclusive result in 6/20 cases (30%) after suction biopsy, 4/31 (12.9%) cases after punch biopsy and 0 cases (0%) after open biopsy. We had one case with major postoperative bleeding post suction biopsy; there were no further adverse effects after biopsy.

Conclusions: Diagnostic rectal biopsies in children are safe. Non-surgical biopsies are more likely to give inconclusive results due to smaller amounts of submucosa present in the specimen. Open biopsies are especially useful when previous non-surgical biopsies are inconclusive. An experienced pathologist is a key factor for the result. The anatomopathology report should specify the different layers present in the specimen, the presence of ganglion cells and hypertrophic nerve fibres, their description and a conclusion.

Keywords: Hirschsprung’s disease; pathology Hirschsprung; punch biopsy; rectal biopsy; suction biopsy.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
First biopsies.
Figure 2
Figure 2
First biopsies: non-surgical.
Figure 3
Figure 3
Second biopsies (after a first inconclusive result).
Figure 4
Figure 4
All biopsies.
Figure 5
Figure 5
Inconclusive biopsies.
Figure 6
Figure 6
Non-surgical biopsies.

References

    1. Heuckeroth R.O. Hirschsprung disease—Integrating basic science and clinical medicine to improve outcomes. [(accessed on 5 January 2023)];Nat. Rev. Gastroenterol. Hepatol. 2018 15:152–167. doi: 10.1038/nrgastro.2017.149. Available online: https://pubmed.ncbi.nlm.nih.gov/29300049/ - DOI - PubMed
    1. Kawaguchi A.L., Guner Y.S., Sømme S., Quesenberry A.C., Arthur L.G., Sola J.E., Downard C.D., Rentea R.M., Valusek P.A., Smith C.A., et al. Management and outcomes for long-segment Hirschsprung disease: A systematic review from the APSA Outcomes and Evidence Based Practice Committee. [(accessed on 5 January 2023)];J. Pediatr. Surg. 2021 56:1513–1523. doi: 10.1016/j.jpedsurg.2021.03.046. Available online: https://pubmed.ncbi.nlm.nih.gov/33993978/ - DOI - PMC - PubMed
    1. Tabbers M.M., Dilorenzo C., Berger M.Y., Faure C., Langendam M.W., Nurko S., Staiano A., Vandenplas Y., Benninga M.A. Evaluation and treatment of functional constipation in infants and children: Evidence-based recommendations from ESPGHAN and NASPGHAN. J. Pediatr. Gastroenterol. Nutr. 2014;58:258–274. doi: 10.1097/MPG.0000000000000266. - DOI - PubMed
    1. De Lorijn F., Kremer L.C.M., Reitsma J.B., Benninga M.A. Diagnostic tests in Hirschsprung disease: A systematic review. J. Pediatr. Gastroenterol. Nutr. 2006;42:496–505. doi: 10.1097/01.mpg.0000214164.90939.92. - DOI - PubMed
    1. Diamond I.R., Casadiego G., Traubici J., Langer J.C., Wales P.W. The contrast enema for Hirschsprung disease: Predictors of a false-positive result. J. Pediatr. Surg. 2007;42:792–795. doi: 10.1016/j.jpedsurg.2006.12.031. - DOI - PubMed

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