Clinicopathological Characteristics of Hirschsprung's Disease With Emphasis on Diagnosis and Management: A Single-Center Study in the Kingdom of Saudi Arabia.

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.