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Updated: Jan 2, 2026
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
Diagnosis of Hirschsprung Disease
Lusine Ambartsumyan1, Caitlin Smith2, Raj P Kapur3
1Department of Gastroenterology, Seattle Children's Hospital and University of Washington, Seattle, Washington.
Insights
Diagnosing Hirschsprung disease (HSCR) in newborns often involves rectal biopsy. While standard staining is common, special stains like acetylcholinesterase and calretinin aid challenging cases.
Area of Science:
- Pediatric Pathology
- Gastroenterology
- Surgical Neonatology
Background:
- Hirschsprung disease (HSCR) is a congenital disorder affecting the large intestine.
- Diagnosis is crucial in neonates presenting with constipation or intestinal obstruction.
- Histopathological evaluation of rectal biopsy is the gold standard for HSCR diagnosis.
Purpose of the Study:
- To review the clinical and pathological features of Hirschsprung disease.
- To highlight common diagnostic findings and challenging aspects of HSCR workup.
- To discuss the utility of ancillary diagnostic tests in HSCR diagnosis.
Main Methods:
- Review of clinical presentations and pathological findings in HSCR.
- Discussion of diagnostic screening tests like contrast enema and anorectal manometry.
- Emphasis on histopathological evaluation of rectal biopsies.
Main Results:
- Conventional hematoxylin-and-eosin staining is often sufficient for HSCR diagnosis or exclusion.
- Ancillary tests, including acetylcholinesterase histochemistry and calretinin immunohistochemistry, are valuable in difficult cases.
- Understanding key clinical and pathological features aids in accurate diagnosis.
Conclusions:
- Accurate diagnosis of HSCR relies on a combination of clinical suspicion and histopathological confirmation.
- Specialized stains provide critical support for experienced pathologists in diagnosing complex HSCR cases.
- This review aims to guide the diagnostic workup for Hirschsprung disease.
Abstract:
Diagnosis or exclusion of Hirschsprung disease (HSCR) is a frequent exercise in any pediatric hospital. Although HSCR may present at different ages and with varied clinical findings, the most common presentation is a neonate with severe constipation or signs of intestinal obstruction. A variety of diagnostic tests including contrast enema and anorectal manometry may be used as diagnostic screens, but diagnosis ultimately rests upon histopathological evaluation of a rectal biopsy. For the experienced pathologist, conventional hematoxylin-and-eosin-stained sections often suffice to exclude HSCR or establish the diagnosis. However, ancillary diagnostic tests such as acetylcholinesterase histochemistry or calretinin immunohistochemistry are complementary and extremely helpful in some cases. In this Perspectives article, we review the clinical and pathological features of HSCR, highlight those that are found in most patients, and discuss how to address particularly challenging aspects of the diagnostic workup.
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