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Pitfalls and considerations in the diagnosis of Hirschsprung's disease: A focus on pathological assessment
1Mashhad University of Medical Sciences, Department of Pathology, Mashhad, Iran.
Insights
Hirschsprung
Area of Science:
- Pediatric Gastroenterology
- Surgical Pathology
- Colorectal Surgery
Background:
- Hirschsprung's disease (HSCR) is a congenital intestinal disorder.
- It involves the absence of ganglion cells (GCs) in the distal colon, causing functional obstruction.
- Accurate diagnosis is crucial to prevent complications from under- or overdiagnosis.
Purpose of the Study:
- To review common diagnostic challenges in Hirschsprung's disease (HSCR).
- To highlight the importance of interdisciplinary collaboration for optimal patient management.
- To provide a pictorial guide for diagnosing HSCR.
Main Methods:
- Retrospective case review from a tertiary pediatric referral center.
- Analysis of diagnostic pitfalls in histopathological examination of HSCR.
- Emphasis on collaborative interpretation of imaging and pathology.
Main Results:
- Diagnostic challenges in HSCR are common and can lead to significant clinical consequences.
- Histopathological interpretation requires careful attention to detail to avoid errors.
- Multidisciplinary input is essential for accurate HSCR diagnosis.
Conclusions:
- Accurate diagnosis of Hirschsprung's disease (HSCR) requires a collaborative approach.
- Addressing diagnostic challenges can improve patient outcomes and reduce complications.
- This review aims to enhance diagnostic accuracy through shared learning.
Abstract:
Hirschsprung's disease (HSCR) is a congenital disorder of the intestine characterized by the absence of ganglion cells (GCs) in the myenteric and submucosal plexuses of the distal colon, leading to functional obstruction. The diagnosis of HSCR relies heavily on histopathological examination, yet pitfalls abound. Underdiagnosis can lead to delayed diagnosis, the need for reoperation, or risk of complications; conversely, overdiagnosis can lead to unnecessary surgery and its associated side effects. This comprehensive pictorial review addresses common diagnostic challenges using cases from our hospital, a tertiary pediatric facility and referral center for HSCR patients, and emphasizes the need for close cooperation among pathologists, surgeons, pediatric gastroenterologists, and radiologists to achieve optimal management for patients with HSCR.
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