A Rare Case of Rectal Atresia: Succesful Management and The Relevance of Follow Up

Background: Rectal atresia (RA) is an uncommon congenital anorectal malformation, accounting for approximately 1–2% of such anomalies. It is characterized by a normally developed anus with a complete or partial discontinuity in the rectal lumen, leading to obstruction. Early identification is often delayed due to a normal perineal appearance, with typical presentation including failure to pass meconium, abdominal distension, and signs of intestinal obstruction. Surgical correction, commonly through posterior sagittal anorectoplasty (PSARP), is the mainstay of treatment, and long-term follow-up is crucial for managing complications and associated anomalies. Case Presentation: We report the case of a male neonate, diagnosed with RA within 12 hours of birth, presenting with failure to pass meconium and abdominal distension. Despite a normally formed anus, rectal catheterization revealed obstruction 2 cm from the anal verge. Imaging identified left crossed fused renal ectopia. A staged surgical repair was performed: high sigmoid colostomy on day 2, PSARP at 5 months, and colostomy closure at 1 year. Postoperative follow-up revealed recurrent febrile UTIs and constipation. Investigations showed bilateral vesicoureteric reflux and a cross-fused ectopic kidney. The patient underwent ureteric reimplantation at 5 years. At 10 years of age, the child remains continent, infection-free, and demonstrates normal growth and development. Conclusion: This case highlights not only the successful surgical management of RA but also the importance of long-term follow-up for early detection and management of associated congenital anomalies, particularly urological abnormalities. It underscores the necessity for a multidisciplinary approach in rare anorectal malformations to ensure optimal functional outcomes and quality of life.

Publication Details

Journal
Journal of Carcinogenesis
Published
2025-10-11
DOI
https://doi.org/10.64149/j.carcinog.24.8s.819-823
Primary Topic
Congenital gastrointestinal and neural anomalies
Type
article
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article

A Rare Case of Rectal Atresia: Succesful Management and The Relevance of Follow Up

Journal of Carcinogenesis
Congenital gastrointestinal and neural anomalies
article

A Rare Case of Rectal Atresia: Succesful Management and The Relevance of Follow Up

article en

Abstract

Background: Rectal atresia (RA) is an uncommon congenital anorectal malformation, accounting for approximately 1–2% of such anomalies. It is characterized by a normally developed anus with a complete or partial discontinuity in the rectal lumen, leading to obstruction. Early identification is often delayed due to a normal perineal appearance, with typical presentation including failure to pass meconium, abdominal distension, and signs of intestinal obstruction. Surgical correction, commonly through posterior sagittal anorectoplasty (PSARP), is the mainstay of treatment, and long-term follow-up is crucial for managing complications and associated anomalies. Case Presentation: We report the case of a male neonate, diagnosed with RA within 12 hours of birth, presenting with failure to pass meconium and abdominal distension. Despite a normally formed anus, rectal catheterization revealed obstruction 2 cm from the anal verge. Imaging identified left crossed fused renal ectopia. A staged surgical repair was performed: high sigmoid colostomy on day 2, PSARP at 5 months, and colostomy closure at 1 year. Postoperative follow-up revealed recurrent febrile UTIs and constipation. Investigations showed bilateral vesicoureteric reflux and a cross-fused ectopic kidney. The patient underwent ureteric reimplantation at 5 years. At 10 years of age, the child remains continent, infection-free, and demonstrates normal growth and development. Conclusion: This case highlights not only the successful surgical management of RA but also the importance of long-term follow-up for early detection and management of associated congenital anomalies, particularly urological abnormalities. It underscores the necessity for a multidisciplinary approach in rare anorectal malformations to ensure optimal functional outcomes and quality of life.

Journal of CarcinogenesisVol. 24(8s)
Openalex Percentile: Top 33%
Congenital gastrointestinal and neural anomalies
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A Rare Case of Rectal Atresia: Succesful Management and The Relevance of Follow Up · Journal of Carcinogenesis (2025) | TGRS Research Map | TGRS