Persistent Transition Zone In Hirschsprung Disease Despite Long-Term Diversion: A Case-Based Reappraisal of Conventional Concepts
Özet
The transition zone (TZ) in Hirschsprung disease (HD) represents the segment of the bowel that shows a gradual decline in the number of ganglion cells from the proximal ganglionic segment towards the distal aganglionic segment. Identification of the transition zone radiologically during contrast enema plays a critical role in the diagnosis and surgical planning. The classical understanding suggests that diversion stomas or rectal washouts may obscure or eliminate the radiological TZ. We present a case of a 5-year-old child with a long-standing diverting colostomy in whom a well-defined TZ persisted despite prolonged diversion. This case challenges traditional assumptions regarding the dynamic nature of the TZ. A comprehensive review of embryology, pathophysiology, and literature suggests that the TZ is established early during enteric nervous system development and remains anatomically fixed, although its radiological expression may vary. Understanding this concept has implications for diagnostic imaging, interpretation of contrast studies, and operative decision-making.
Referanslar
Heuckeroth RO. Hirschsprung disease: integrating basic science and clinical medicine to improve outcomes. Nat Rev Gastroenterol Hepatol. 2018;15(3):152-167. doi:10.1038/nrgast- ro.2017.149
Kapur RP. Histology of the transition zone in Hirschsprung disease. Am J Surg Pathol.
2016;40(12):1637-1646. doi:10.1097/PAS.0000000000000711
Swenson O. Hirschsprung’s disease: a review. Pediatrics. 2002;109(5):914-918. doi:10.1542/ peds.109.5.914
Anderson RB, Newgreen DF, Young HM. Neural crest and the development of the enteric nervous system. In: Madame Curie Bioscience Database [Internet]. Austin, TX: Landes Bios- cience; 2000-2013. https://www.ncbi.nlm.nih.gov/books/NBK6273/
Burns AJ, Pachnis V. Development of the enteric nervous system: bringing together cel- ls, signals and genes. Neurogastroenterol Motil. 2009;21(2):100-102. doi:10.1111/j.1365- 2982.2008.01255.x
Coyle D, O’Donnell AM, Tomuschat C, Gillick J, Puri P. The extent of the transition zone in Hir- schsprung disease. J Pediatr Surg. 2019;54(11):2318-2324. doi:10.1016/j.jpedsurg.2019.04.017
Kapoor S, Pathak IC, Bhatnagar V. Transition zone in Hirschsprung disease: revisited. J Pedi- atr Surg. 2009;44(11):2109-2113.
Monforte HL, Wilsey M, Gonzalez R. Surgical pathology of Hirschsprung disease (HSCR). World J Pediatr Surg. 2025;8(3):e000882. Published July 31, 2025. doi:10.1136/wjps-2024- 000882
Meier-Ruge WA, Bruder E, Kapur RP. Pathology of Hirschsprung disease. Eur J Pediatr Surg.
2004;14(6):388-395
Amiel J, Sproat-Emison E, Garcia-Barcelo M, et al. Hirschsprung disease, associated syndro- mes and genetics: a review. Hum Mol Genet. 2008;17(R2):R173-R179.
Young HM, Hearn CJ, Ciampoli D, et al. A single rostrocaudal colonization of the rodent intestine by enteric neuron precursors is revealed by the expression of Phox2b, Ret, and p75. Gastroenterology. 2001;120(3):588-597.
Levitt MA, Peña A. Anorectal malformations and Hirschsprung disease. Surg Clin North Am.
2012;92(3):659-688.
