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

Natash Fourie1, Corne De Vos1, Camilla E Le Roux2

  • 1Division of Paediatric Surgery, Stellenbosch University Faculty of Medicine and Health Sciences, Cape Town, South Africa.

BMJ Case Reports
|July 26, 2022
PubMed

Insights

An imperforate anus (ARM) rarely occurs with a Bochdalek diaphragmatic hernia. This case highlights a delayed diaphragmatic hernia presentation 10 months post-ARM surgery, an uncommon congenital abnormality association.

Area of Science:

  • Pediatric Surgery
  • Neonatalogy
  • Congenital Malformations

Background:

  • Imperforate anus (ARM) is often associated with VACTERL anomalies.
  • Congenital diaphragmatic hernias (CDH) are also linked to other birth defects.
  • The simultaneous occurrence of ARM and CDH is uncommon.

Observation:

  • A case report of an infant with ARM and a Bochdalek type diaphragmatic hernia is presented.
  • The diaphragmatic hernia had a delayed presentation, occurring 10 months after surgical repair of the ARM.
  • This specific combination of congenital abnormalities is rare in clinical practice.

Findings:

  • The study details an unusual presentation of a right-sided Bochdalek type diaphragmatic hernia in an infant with a pre-existing anorectal malformation.
  • The diaphragmatic hernia was diagnosed significantly later than the initial anorectal malformation repair.
  • This case underscores the complex and sometimes delayed manifestation of congenital anomalies.

Implications:

  • Highlights the importance of considering associated anomalies in patients with imperforate anus, even with delayed presentations.
  • Suggests the need for vigilance in diagnosing diaphragmatic hernias in infants with complex congenital conditions.
  • Contributes to the understanding of rare co-occurrences of congenital malformations, aiding future diagnostic and management strategies.

Keywords:
paediatric surgerypaediatrics

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