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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Hirschsprung's disease other diagnostic studies

Introduction

Overview

Overview

Other diagnostic studies include rectal biopsy, barium enema, and anorectal manometry. A rectal biopsy, which will show an absence of ganglionic cells, is the gold standard confirmatory test for Hirschsprung’s disease.[1][2]

Other Diagnostic Studies

Other Diagnostic Studies

A rectal biopsy presenting the absence of ganglionic cells is the gold standard confirmatory test for Hirschsprung’s disease.[1][2]

Diagnostic Test Findings
Rectal biopsy
Enema
  • Contracted distal bowel and dilated proximal bowel with demonstration of the transition zone location in between
Anorectal manometry
  • Absent anal reflex and increased pressure
References

References

  1. ↑ 1.0 1.1 Wetherill C, Sutcliffe J (2014). “Hirschsprung disease and anorectal malformation”. Early Hum. Dev. 90 (12): 927–32. doi:10.1016/j.earlhumdev.2014.09.016. PMID 25448783.
  2. ↑ 2.0 2.1 Das K, Mohanty S (2017). “Hirschsprung Disease – Current Diagnosis and Management”. Indian J Pediatr. doi:10.1007/s12098-017-2371-8. PMID 28600660.

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Aditya Ganti M.B.B.S. [2]