The Pathologist's Role in the Diagnosis of Hirschsprung's Disease

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.