Related Experiment Video
Updated: Nov 26, 2025

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
Image of the Month: Decision-Making in Surgery for Late Onset Hirschsprung Disease
Anisha Apte1, Elise McKenna2, Marc A Levitt1,2,3
1Department of Surgery, The George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, United States.
Insights
This case study discusses a late diagnosis of Hirschsprung disease (HD) in a 14-year-old boy, highlighting diagnostic methods and management challenges for delayed presentations.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Clinical Case Reports
Background:
- Hirschsprung disease (HD) is a congenital condition affecting the large intestine, typically diagnosed in infancy.
- Late diagnosis of HD can present with chronic symptoms like abdominal distension, poor growth, and constipation.
Observation:
- A 14-year-old male presented with a long history of chronic abdominal distension, failure to thrive, and severe constipation.
- Diagnostic workup included anorectal manometry and rectal biopsy.
Findings:
- Anorectal manometry and rectal biopsy confirmed the diagnosis of Hirschsprung disease (HD).
- This case highlights the challenges associated with diagnosing HD in adolescents.
Implications:
- Effective management strategies for late-diagnosed HD are crucial for improving patient outcomes.
- This case underscores the importance of considering HD in pediatric patients with chronic gastrointestinal issues, regardless of age.
Abstract:
We present a case of a 14-year-old boy with chronic distension, poor growth, and chronic constipation. He undergoes anorectal manometry and rectal biopsy, confirming the diagnosis of Hirschsprung disease (HD). The case is presented with a key image and associated questions to prompt discussion on strategies for management and treatment of HD in late-diagnosed children.
