Work

Colon Agenesis in a Patient With Severe Perineal Crohn's Disease

Year: 2024

Type: article

Abstract: Case Presentation A 30-year-old female was admitted to a tertiary hospital with a perianal abscess associated with hyperemia and the discharge of purulent secretion from the vaginal canal. She had a history of Crohn's disease, being followed at another service, and had used adalimumab, discontinuing treatment 6 years prior. She also had depression and anxiety. She denied any previous surgeries. Upon examination, there were hardened circumferential plicomas and multiple anorectal and rectovaginal fistulas. The abdomen was soft and painless, without scars. She was diagnosed with severe perineal abscessed Crohn's disease. MRI showed soft tissue edema adjacent to the anal canal, with multiple perianal fistulas, an irregular collection on the right, and a posterior collection extending to the coccyx, maintaining a fistula communicating with the posterior wall of the anal canal. Abdominal and pelvic CT revealed diffuse densification of the perirectal fat, indicating inflammation and infection. She underwent two perineal approaches, with drainage of collections, the largest on the right, and placement of five silicone drains. After resolving the septic condition, she had difficulty healing the surgical wound due to significant fecal incontinence. A decision was made for a diverting transverse colostomy. During surgery, it was found that all colon segments were absent, with the ileum located 270 cm distal to the Treitz angle, medianized at the level of the promontory, and covered with hypertrophic mesenteric tissue. A diverting ileostomy was then performed. Discussion Colon agenesis is a rare finding in medical literature, with most reported cases involving newborns with associated gastrointestinal and cardiac malformations. One form of presentation is the “colon pouch syndrome,” characterized by the partial or complete replacement of the colon by a dilated terminal ileum, often with an associated urogenital fistula. Conclusion The patient described in this case had a prior diagnosis of Crohn's disease made at another tertiary center in São Paulo and had previously received immunobiological therapy. A complete investigation was assumed to have been done, and the patient confirmed it at the onset of clinical manifestations, but follow-up exams were lost. This case highlights not only the rarity of the disease found but also the unusual age range, the association with inflammatory bowel disease, and the diagnostic failure over years of monitoring for Crohn's disease. Publication History Article published online: 25 April 2025 © 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/) Thieme Revinter Publicações Ltda. Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil

Source: Journal of Coloproctology

DOI: 10.1055/s-0045-1808703