Evidence map›Paper›PMID 40464991›Full record

ArticlePediatric surgery international2025

Does the absence of hypertrophic nerves on rectal biopsy predict long-segment or total colonic aganglionosis?

Sage A Vincent, Lauren L Evans, Suhong Tong, Madhi P Mashhadi, Michael Arnold, Mark Lovell, Andrea Bischoff, Luis De La Torre

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Article in Pediatric surgery international, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Sage A VincentDepartment of Pediatric Surgery, Children's Hospital Colorado, 13123 East 16th Avenue, Box 323, Anschutz Medical Campus, Aurora, CO, 80045, USA.
Lauren L EvansInernational Center for Colorectal and Urogenital Care, Children's Hospital Colorado, 13123 East 16th Avenue, Box 323, Anschutz Medical Campus, Aurora, CO, 80045, USA.
Suhong TongResearch Outcomes in Children's Surgery, Children's Hospital Colorado, 13123 East 16th Avenue, Box 323, Anschutz Medical Campus, Aurora, CO, 80045, USA.
Madhi P MashhadiInernational Center for Colorectal and Urogenital Care, Children's Hospital Colorado, 13123 East 16th Avenue, Box 323, Anschutz Medical Campus, Aurora, CO, 80045, USA.
Michael ArnoldDepartment of Pediatric Pathology, Children's Hospital Colorado, 13123 East 16th Avenue, Box 323, Anschutz Medical Campus, Aurora, CO, 80045, USA.
Mark LovellDepartment of Pediatric Pathology, Children's Hospital Colorado, 13123 East 16th Avenue, Box 323, Anschutz Medical Campus, Aurora, CO, 80045, USA.
Andrea BischoffInernational Center for Colorectal and Urogenital Care, Children's Hospital Colorado, 13123 East 16th Avenue, Box 323, Anschutz Medical Campus, Aurora, CO, 80045, USA.
Luis De La TorreInernational Center for Colorectal and Urogenital Care, Children's Hospital Colorado, 13123 East 16th Avenue, Box 323, Anschutz Medical Campus, Aurora, CO, 80045, USA. luis.delatorre@childrenscolorado.org.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeHirschsprung disease (HD) is defined by absent ganglion cells in the rectum and, often, by hypertrophic nerve fibers. However, these hypertrophic nerves may be lacking when aganglionosis extends beyond the sigmoid colon. This study examines histopathological differences in rectal biopsies from HD patients, focusing on hypertrophic nerves and their correlation with aganglionosis length.

methodsThis retrospective study analyzed patients with HD at a single institution from January 2016 to February 2025. Rectal biopsy and pull-through specimen pathology reports were reviewed to assess for hypertrophic nerves, focusing on differences among various lengths of HD.

resultsThere were 256 patients included, with diagnosed short-segment (n = 209), long-segment (n = 19), total colonic (n = 13), small intestinal (n = 10), and total intestinal HD (n = 5). Hypertrophic nerves were absent on rectal biopsy in 13 of 209 short-segment and 15 of 47 patients with extended aganglionosis. Absence of hypertrophic nerves on rectal biopsy was predictive of aganglionosis beyond the sigmoid (OR = 6.13, 95% CI 2.73, 13.78), with sensitivity of 32.6% and specificity of 93.7%.

conclusionThe absence of hypertrophic nerves suggests a more proximal extent of aganglionosis; however, their presence has poor sensitivity for ruling out long-segment variants. These findings could guide pre-operative counseling and surgical planning, though prospective evaluation is needed.

Indexed as

ColonHirschsprung DiseaseRectumBiopsyChild, PreschoolFemaleHumansInfantMaleRetrospective StudiesColonic aganglionosisHirschsprung diseaseHypertrophic nervesIntestinal aganglionosisLong-segment Hirschsprung diseaseRectal biopsy

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PMID40464991

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