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Bochdalek Hernia and Partial Diaphragmatic Agenesis: Pedicled Intercostal Muscle Flap and Mesh Repair in a Young
Klein Dantis1, Devendra Kumar Rathore2, Nilesh Gupta3
1Department of Cardiothoracic Surgery, All India Institute of Medical Sciences, Raipur, Chhattisgarh, India.
Insights
Congenital Bochdalek hernia (BH) is rare in adults, often presenting unusually. This case highlights a rare adult BH with partial diaphragmatic agenesis and sickle cell disease, a unique presentation not previously reported.
Area of Science:
- Medical Science
- Surgical Science
- Pediatric Surgery
Background:
- Congenital Bochdalek hernia (BH) is a rare condition, primarily affecting infants with an incidence of 1:3,000 live births.
- Adult presentation of BH is exceptionally uncommon, with most cases diagnosed in the pediatric age group.
- Surgical repair is the standard treatment, involving thoracic, abdominal, or thoraco-abdominal approaches, often with diaphragmatic reconstruction for agenesis.
Observation:
- This report details a rare case of a congenital Bochdalek hernia in a young adult.
- The patient presented with an unusual manifestation of BH, persisting asymptomatically into adulthood.
- A significant comorbidity of sickle cell disease was noted in this adult BH patient.
Findings:
- This case represents one of only 10 reported instances of BH with partial diaphragmatic agenesis.
- The co-occurrence of adult BH, partial diaphragmatic agenesis, and sickle cell disease is unprecedented in medical literature.
- The study discusses the rarity, atypical presentation, and management strategies for this complex clinical scenario.
Implications:
- This case expands the understanding of congenital Bochdalek hernia presentations beyond infancy.
- It underscores the importance of considering rare diagnoses in adult patients with atypical symptoms.
- The findings may inform surgical approaches and management protocols for similar complex cases in the future.
Abstract:
Congenital Bochdalek hernia (BH) in an adult is rare and has an unusual presentation. They are confined to the pediatric age group with an incidence of 1:3,000 live births. It rarely persists asymptomatic until adulthood. Surgical repair by thoracic, abdominal, or thoraco-abdominal approach is the treatment of choice with diaphragmatic reconstruction in associated diaphragmatic agenesis. With only 10 cases of BH with partial diaphragmatic agenesis reported to date, we discuss the rarity, unusual presentation, and management of BH in a young adult with sickle cell disease that has not been reported in the literature.

