Related Experiment Video
Updated: Jun 21, 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
The Pathologist's Role in the Diagnosis of Hirschsprung's Disease
1Institute of Pathology, University Medicine Rostock, Rostock, Germany.
Insights
Accurate diagnosis of Hirschsprung
Area of Science:
- Pathology
- Pediatric Surgery
Background:
- Hirschsprung's disease (HSCR) diagnosis relies heavily on histopathology.
- Advances in techniques improve diagnostic accuracy.
Purpose of the Study:
- To review the histopathologic workup for Hirschsprung's disease.
- To highlight diagnostic challenges and solutions.
Main Methods:
- Literature review of PubMed database (2000-2024).
Main Results:
- Pathologists aid in primary diagnosis, intra-operative guidance, and post-resection confirmation.
- Absence of ganglion cells is diagnostic; supportive stains (calretinin, acetylcholinesterase) aid detection.
- Difficulties arise from standard stain limitations and small tissue samples.
Conclusions:
- Interdisciplinary collaboration is crucial for improving diagnostic accuracy.
- Effective communication between pathologists and clinicians is essential.
Introduction:
The possibilities, recent advances, and pitfalls in the histopathologic workup of specimens submitted for the diagnosis of Hirschsprung's disease (HSCR) are presented.
Materials And Methods:
A literature research was performed in the database PubMed including the years 2000 to 2024.
Results:
The pathologist is involved in the diagnosis of HSCR in three scenarios: (1) the primary diagnosis in a child with the typical clinical symptoms, (2) the intra-operative guidance of surgery in a case where the diagnosis is already established, and (3) the confirmation of the diagnosis and the documentation of the extent of the disease in the resected specimen. Identification of ganglion cells in the enteric neural plexuses excludes HSCR, and the histological confirmation of a complete absence of these ganglion cells is the gold standard for its diagnosis. However, difficulties in the detection of ganglion cells with standard stains and/or a limited amount of tissue in the specimen submitted for diagnosis make supportive histologic stains and techniques, e.g., calretinin immunohistochemistry or acetylcholinesterase histochemistry necessary for an unequivocal diagnosis of HSCR.
Conclusions:
Improving the diagnostic accuracy of this life-threating disease is an interdisciplinary task. A good communication between pathologist and clinician, as well as mutual knowledge of skills and challenges of the other discipline, is necessary for a successful diagnostic teamwork.
Related Concept Videos
01:30Serum Laboratory Studies, Stool Test, Breath Test
01:25Assessment of the Rectum and Anus
Rectal Inspection
Begin by inspecting the perianal and anal areas for color, texture, rashes,...
01:30Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
01:26Imaging Studies III: Gastrointestinal Motility Studies and Virtual Colonoscopy
Radionuclide Testing
Radionuclide testing is a sophisticated medical technique for assessing gastrointestinal motility. It focuses on gastric emptying and colonic transit time. Radioactive markers track the movement of food through the digestive system, providing insights into gastrointestinal disorders.
In gastric emptying studies, a meal's liquid and...