Jejunal perforation as an unusual presentation of total colonic aganglionosis in a neonate: A case report

INTRODUCTION: Neonatal intestinal perforation usually occurs at distal small bowel secondary to distal bowel obstruction. The aim of this report is to describe an unusual case of total colonic aganglionosis with an initial presentation of proximal jejunal perforation. PRESENTATION OF CASE: A male newborn presented with jejunal perforation on the fifth day of life and was treated by laparoscopic primary repair. Abdominal distention persisted postoperatively, and radiological examination revealed an obstruction near the terminal ileum. Laparotomy showed a transition zone 30-cm proximal to the ileocecal valve, and diverting ileostomy and appendiceal biopsy was performed. Permanent section demonstrated the complete absence of ganglion cells in the appendix and total colonic aganglionosis was strongly suspected. DISCUSSION: Contrary to the classic teaching, proximal bowel perforation can occur in case of far distal obstruction, and careful distal evaluation would direct more appropriate surgical treatment option. CONCLUSIONS: Total colonic aganglionosis can present as a proximal bowel perforation. Careful distal evaluation can provide diagnostic clues in cases of proximal intestinal perforation. Appendiceal biopsy is a reliable tool for evaluating suspected total colonic aganglionosis, but multiple colonic and rectal biopsies should be obtained to confirm the diagnosis.