Exomphalos with intestinal fistulation: Case series and systematic review for clinical characterization, management and embryopathogenesis

Introduction: Exomphalos with intestinal fistulation (EIF) is a rare variant of exomphalos with intestine opening to the surface of an intact sac, and may result in a diagnostic challenge. We report 3 new cases and conducted a systematic review of the literature, to characterize its association with the type of exomphalos and vitellointestinal duct (VI) as well as to evaluate its management and outcomes.

Methods: A literature search from PubMed using keywords pertaining to exomphalos and fistulation was used to identify all unique cases reported between 1950 and 2020, in addition to the case series reported here, to establish the clinical presentation, histological findings, management and outcomes.

Results: We found a total of 28 cases of EIF, of which 25 had been reported in 70 years from 19 reports. There was a male predominance (4-to-1 ratio). The majority presented as an exomphalos minor (n = 23, 82%) with a prolapsing patent VI duct (n = 16, 57%), most had evidence of Meckel's diverticulum (n = 25, 89%). All but one case were managed by fistula excision with or without ileal resection and anastomosis, followed by primary closure of the abdominal wall defect. All patients, except one with Trisomy 13 who received only palliative care, underwent surgery. Post-operative complications occurred in 7 patients (25%). Congenital anomalies were present in 12 (43%) and none had Beckwith-Wiedemann syndrome. Mortality occurred in 4 patients (14%) between 3 and 17 days. One EIF with exomphalos major failed early conservative treatment due to sac disintegration and sepsis, requiring staged closure, but had a good outcome.

Discussion: EIF is a rare entity usually associated with exomphalos minor and vitelline duct involvement. EIF presentation is variable but primary surgery is the mainstay of treatment with generally good outcomes. Common features of EIF suggest a different embryopathogenesis to other forms of exomphalos.