Congenital stomised omphalocele: a case report and scoping literature review

Background: Omphalocele is a congenital midline abdominal wall defect, rarely associated with a congenital stoma. This unusual presentation presents unique diagnostic and surgical challenges, with only a handful of cases reported in the literature. Case report: We report a male neonate born at 36 + 6 weeks of gestation with a small-to-moderate omphalocele (6 cm) containing an externalized ileal segment that functioned as a congenital stoma. Preoperative evaluation, including contrast study via the stoma, echocardiography, and genetic testing, revealed no associated malformations. During the first month of life, conservative management was adopted, and the stoma remained functional. Subsequently, the infant developed signs of bowel obstruction with persistent bilious vomiting and therefore underwent surgical intervention. Intraoperative findings warranted resection of the affected bowel segment, followed by primary end-to-end anastomosis and direct abdominal wall closure. Histopathologic analysis confirmed congenital spontaneous fistulization without evidence of vitelline duct remnants or heterotopia. The postoperative course was uneventful, with early return to full enteral feeding and normal growth documented at 12-month follow-up. Methods: A scoping review of PubMed and Scopus identified previously reported cases of omphalocele with congenital stoma. Among 1,428 studies screened, only one met the inclusion criteria. Discussion and conclusion: Unlike previously reported cases, our patient had no intestinal atresia, suggesting a distinct embryologic mechanism. Omphalocele associated with a congenital stoma is exceptionally rare but can be safely repaired through deferred single-stage intervention in selected cases. Reporting additional cases and fostering multicenter collaboration are essential to improve understanding and guide management.