Double trouble: Rectoperineal fistula with rectal duplication and VACTERL association: A case report

Introduction: Rectal duplications are rare congenital malformations, with approximately 100 cases reported in the literature. Only 12 of these involve concurrent anorectal malformations (ARMs). We report the case of rectal duplication with anterior rectoperineal fistula in an infant with VACTERL association. Case presentation: A 20-day-old term female presented with failure to thrive and severe diaper rash. She was found to have a rectoperineal fistula on physical examination by a pediatric surgeon. VACTERL work-up revealed cardiac anomalies (VSD, PFO, PDA), left renal ectopia, low lying conus medullaris, and right hip dysplasia. She was taken to the operating room for an ASARP on day of life 26. Intra-operatively, a rectoperineal fistula was identified 1.5cm anterior to the sphincter complex. Dissection of the fistula revealed two openings: the rectoperineal fistula anteriorly and a blind pouch posteriorly, consistent with a rectal duplication. The fistula was dissected from the perineum anteriorly and laterally, while the rectal duplication was dissected from the perineum posteriorly. The common wall between the rectum and the rectal duplication was divided in the midline, creating a common channel between the rectum and the rectal duplication. The neo-anus was then fashioned and calibrated to a 12 Hagar dilator. Post-operatively, the patient resumed feeding and stooling without complications. She is now two years old and stooling normally. Conclusion: Although rare, colorectal duplications can coexist with anorectal malformations.