Research: Incidental discovery of a giant congenital diaphragmatic hernia in an adult: A case report and literature review

Int J Surg Case Rep

. 2024 Jun 27:121:109969.

 doi: 10.1016/j.ijscr.2024.109969. Online ahead of print.

Incidental discovery of a giant congenital diaphragmatic hernia in an adult: A case report and literature review

Ali Taheriniya 1Mohammad Reza Maghsoudi 1Pouria Chaghamirzayi 2

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Introduction and importance: Congenital diaphragmatic hernia (CDH) is rare, occurring in 1 in 2000 to 4000 live births, and is typically diagnosed in neonates. Bochdalek hernia is the most common type, usually presenting as a left-sided posterolateral defect. Adult presentations of CDH are uncommon and often incidental. This report discusses a young adult with an undiagnosed CDH, emphasizing the importance of clinical awareness.

Case presentation: A 26-year-old man presented with flu-like symptoms and stable vital signs. He reported chronic postprandial shortness of breath that improved with standing. Physical examination revealed decreased breath sounds on the left side. A chest X-ray identified a left diaphragmatic hernia, confirmed by spiral chest computed tomography. Although advised to undergo surgery, the patient opted for discharge against medical advice.

Clinical discussion: Bochdalek hernia, comprising over 95 % of CDH cases, is usually left-sided due to a defect in the pleuroperitoneal membrane. Adults with CDH often present with nonspecific symptoms or the condition is discovered incidentally. Our patient adapted to his symptoms by standing after meals, which provided relief. Surgical intervention is recommended to prevent organ damage, with various techniques available, including open and endoscopic surgery. This case highlights the necessity of clinical vigilance in diagnosing CDH in adults.

Conclusion: Adult congenital diaphragmatic hernia, though rare, requires prompt surgical treatment to prevent organ damage. Recognizing subtle symptoms is crucial for diagnosis. This report contributes to the limited literature on adult-diagnosed CDH, stressing the need for clinical awareness and timely management.

Keywords: Adult; Congenital diaphragmatic hernias; Dyspnea.

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