Introduction: Hirschsprung's Disease (HD) is a motor disorder of the gut caused by the failure of neural crest cells to migrate craniocaudally into the bowel during intestinal development, resulting in a functional obstruction. The majority of patients with HD are diagnosed in the neonatal period when they present with symptoms of distal intestinal obstruction. Aim: This study aims to identify the clinic-pathological characteristic of HD patients in our institution in KSA and comparing it with local and international data. Materials and Methods: This retrospective cohort study was conducted in King Abdulaziz Medical City (KAMC), a tertiary care center in Riyadh, Kingdome of Saudi Arabia (KSA). Results: A total of 54 patients (72% male) were diagnosed with HD. Forty-eight patients (89%) were born at term, and 6 were pre-term. Sixty-three percent of the patients presented in the neonatal period. Twenty-two patients (41%) underwent one-stage endorectal pull-through procedure, 23 patients (43%) two-stage endorectal pull-through, and 9 patients (16%) had three-stage endorectal pull-through. Five out of 54 patients had ganglion cells seen on FS but were absent in the permanent section. Therefore, the concordance rate was 90.8%. Conclusion: FS biopsy is a necessary method to determine the level of aganglionosis intraoperatively in HD, but the definitive diagnosis should be with permanent section. Also, the choice of surgical operation type (single-stage or multi-stage pull-through) depends on the patient's clinical condition.
Keywords: Hirschsprung’s disease; aganglionosis; endorectal pull-through; megacolon; neonatal intestinal obstruction; neural crest disorder.