Introduction: Congenital pouch colon (CPC) is a rare malformation. It causes variable dilatation of the colon associated with anorectal malformation (ARM), usually presenting a fistula towards the genitourinary tract.
Case Report: 2-day-old female patient, with no relevant medical history. She had abdominal distension and imperforate anus. She underwent colostomy. She had an irregular evolution with high colostomy debits. Contrast imaging studies were performed, which demonstrated an erroneous exteriorization of the jejunal loop. She underwent an exploratory open surgery, which confirmed the previous diagnosis and incidentally found colonic agenesis, with ileum entering in a pouch of 6 cm of diameter that connects with the bladder.
Discussion: CPC is a common pathology in certain eastern countries and extremely rare in western countries. In Ecuador, no records of reported cases were found. A correct pre-surgical analysis of ARM patients should be carried out to achieve an adequate planning and surgical approach, thus reducing morbidity and mortality.
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Article Synopsis
- The study focuses on the genetic underpinnings of congenital pouch colon (CPC), highlighting the lack of research in this area despite extensive clinical documentation.
- A total of 20 cases of CPC and 52 controls were analyzed, revealing multiple genetic variants in 11 significant genes linked to critical functions like mucosal barrier integrity and colonic muscle development.
- The results suggest that validating these findings with larger, diverse clinical samples and functional studies is essential to understand the genetic factors contributing to CPC better.
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