Pitfalls and considerations in the diagnosis of Hirschsprung's disease: A focus on pathological assessment

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.