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Case Reports: Unusual association of diseases/symptoms
Anorectal malformation associated with delayed presentation of right Bochdalek type diaphragmatic hernia
  1. Natasha Fourie1,
  2. Corne De Vos1,
  3. Camilla E Le Roux2 and
  4. Pierre Goussard3
  1. 1Division of Paediatric Surgery, Stellenbosch University Faculty of Medicine and Health Sciences, Cape Town, South Africa
  2. 2Division of Radiodiagnosis, Department of Medical Imaging and Clinical Oncology, Stellenbosch University Faculty of Medicine and Health Sciences, Cape Town, South Africa
  3. 3Paediatrics and Child Health, Stellenbosch University Faculty of Medicine and Health Sciences, Cape Town, South Africa
  1. Correspondence to Professor Pierre Goussard; pgouss{at}sun.ac.za

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.

  • paediatric surgery
  • paediatrics

https://doi.org/10.1136/bcr-2022-249980

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    Footnotes

    • Contributors CD, NF, PG were responsible for the management, surgical and post surgical treatment of the patient. CL was responsible for the radiological work-up of the patients. All the authors were responsible for writing and editing the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.