BMJ Case Rep

. 2022 Jul 26;15(7):e249980.

 doi: 10.1136/bcr-2022-249980. https://pubmed.ncbi.nlm.nih.gov/35882437/

Anorectal malformation associated with delayed presentation of right Bochdalek type diaphragmatic hernia

Natash Fourie ¹, Corne De Vos ¹, Camilla E Le Roux ², Pierre Goussard ³

Affiliations expand

• PMID: 35882437
• DOI: 10.1136/bcr-2022-249980

Abstract

Patients with an imperforate anus frequently present with congenital abnormalities, most commonly as a component of VACTERL (Vertebral anomalies, Anorectal malformations, Cardiac defect, Tracheo-Oesophageal fistula and Oesophageal atresia, Renal anomalies, and Limb defects) anomalies. It is, however, unusual for infants to present with a concurrent anorectal malformation (ARM) and a Bochdalek type diaphragmatic hernia. We describe an infant with an ARM and a delayed presentation of a right-sided Bochdalek type diaphragmatic hernia. In this case, the Bochdalek type diaphragmatic hernia presented 10 months after a laparoscopic-assisted anorectal plasty was performed. Despite both ARM and congenital diaphragmatic hernia known to be associated with other congenital malformations, the association of these particular congenital abnormalities in an individual patient is uncommon.

Keywords: paediatric surgery; paediatrics.

© BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.