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Updated: Aug 8, 2026

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
05:45

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5

Published on: April 26, 2019

Diagnostic tests in Hirschsprung disease: a systematic review

F de Lorijn1, L C M Kremer, J B Reitsma

  • 1Department of Paediatric Gastroenterology and Nutrition, Emma Children's Hospital/Academic Medical Centre, Amsterdam, The Netherlands. f.delorigin@amc.uva.nl

Journal of Pediatric Gastroenterology and Nutrition
|May 19, 2006
PubMed

Insights

Rectal suction biopsy (RSB) and anorectal manometry (ARM) are the most accurate diagnostic tests for Hirschsprung disease in infants. Contrast enema (CE) showed significantly lower accuracy in this systematic review.

Area of Science:

  • Pediatric Surgery
  • Gastroenterology
  • Diagnostic Imaging

Background:

  • Hirschsprung disease is a congenital condition affecting the large intestine.
  • Accurate diagnosis in infants is crucial for timely intervention.
  • Various diagnostic tests exist, including contrast enema (CE), anorectal manometry (ARM), and rectal suction biopsy (RSB).

Purpose of the Study:

  • To systematically review and compare the diagnostic accuracy of CE, ARM, and RSB in infants suspected of Hirschsprung disease.
  • To identify the most reliable diagnostic tool for this condition.

Main Methods:

  • Systematic review of published studies.
  • Inclusion of studies with infants undergoing CE, ARM, or RSB, with biopsy or clinical follow-up as reference standard.
  • Data extraction for 2x2 tables to calculate sensitivity and specificity.

Main Results:

  • Rectal suction biopsy (RSB) demonstrated the highest accuracy, with a mean sensitivity of 93% and specificity of 98%.
  • Anorectal manometry (ARM) showed comparable accuracy to RSB (sensitivity 91%, specificity 94%).
  • Contrast enema (CE) had significantly lower diagnostic accuracy (sensitivity 70%, specificity 83%).

Conclusions:

  • RSB and ARM are the most accurate tests for diagnosing Hirschsprung disease in infants.
  • These methods should be prioritized in the diagnostic workup.
Abstract

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