Congenital rectal atresia: a rare malformation that can go unnoticed. Case report

Atresia rectal congénita: una malformación rara que puede pasar desapercibida. Reporte de caso

Introduction: Congenital rectal atresia is a rare anorectal malformation characterized by a normal-appearing anus with an interruption of the rectal canal a few centimeters from the dentate line. Its clinical signs mimic other causes of neonatal intestinal obstruction, and diagnosis may be delayed if anal patency is not properly assessed. Case Presentation: A full-term male newborn presenting with abdominal distension, vomiting, and failure to pass meconium. The initial evaluation reported a “permeable anus,” leading to a misdiagnosis of necrotizing enterocolitis. At 3 days of life, a laparotomy was performed, revealing a colonic perforation. A second procedure confirmed the diagnosis of rectal atresia. Surgical management was performed in stages: colostomy, posterior sagittal anorectoplasty with end-to-end anastomosis, and colostomy closure at 11 months. The patient had a favorable clinical and functional outcome. Discussion: The normal appearance of the anus can delay diagnosis. The neonatal physical examination should include instrumental verification of anal patency. The staged surgical approach allowed for patient stabilization, definitive diagnosis, and successful reconstruction, consistent with reports in the literature. Conclusion: Rectal atresia should be suspected in neonates with signs of lower intestinal obstruction despite a normal-appearing anus. Early diagnosis and timely surgical management are essential for a favorable outcome.