A rare case of late-presenting congenital diaphragmatic hernia in an adult patient

Abstract

Congenital diaphragmatic hernia (CDH) refers to a true breach in the continuity of the diaphragm, allowing herniation of abdominal contents into the thoracic cavity. Usually, it presents in the neonatal stage. Adult presentations are rare. Most adult cases of diaphragmatic hernia are of traumatic etiology. Most adult CDH cases are asymptomatic and detected incidentally on imaging. Symptomatic adult CDH cases are uncommon. Bochdalek hernias are more common than the Morgagni type. Most of them are left-sided due to embryonic factors. We present an uncommon case of symptomatic, non-traumatic, left-sided CDH in an adult patient. A 20-year-old male presented with left hypochondriac pain for eight days and left-sided chest pain for three days in the absence of any trauma or comorbidities. On examination, the left chest showed reduced chest movement, diminished breath sounds, and gurgling on auscultation. Chest X-ray showed air-fluid levels in the left hemithorax and right mediastinal shift. Contrast-enhanced computed tomography showed an overdistended stomach in the left hemithorax. Upper midline laparotomy revealed an 8×7 cm defect in the posterior left hemidiaphragm, consistent with a Bochdalek hernia. The stomach and spleen were herniated into the left hemithorax. They were reduced into the peritoneal cavity, and the defect was repaired with primary closure. Diaphragmatic plication was done to reinforce the thinned left hemidiaphragm. This case underscores the importance of considering CDH in adults presenting with thoracoabdominal symptoms, especially in the absence of any trauma. Surgical exploration provides the most definitive diagnosis in cases of equivocal imaging in adult CDH patients.