Perforated gastric volvulus in a child with undiagnosed congenital diaphragmatic hernia (case report)

Congenital diaphragmatic hernia (CDH) is a rare developmental anomaly where a defect in the diaphragm allows abdominal organs to migrate into the thoracic cavity, impairing lung function. While typically identified in neonates, delayed presentations, though uncommon, can complicate diagnosis and treatment. Early detection is vital to prevent severe complications such as organ strangulation or perforation.

We present the case of a 9-year-old boy with a history of fetal hypotrophy and unexplained poor weight gain, presenting with severe abdominal pain, vomiting, and respiratory distress. Imaging revealed a large left diaphragmatic defect with gastric volvulus and perforation. Emergency surgery confirmed herniation of the stomach and transverse colon, with extensive gastric necrosis. The procedure involved repositioning organs, repairing the diaphragm, and removing necrotic tissue. Postoperative complications included bilateral pleural effusion and septic shock, requiring intensive care. The patient recovered well after stabilization and a gradual return to enteral feeding. At the nine-month follow-up, he demonstrated healthy weight gain and was symptom-free.

Delayed CDH presentation, though rare, demands clinical vigilance, particularly in children with unexplained gastrointestinal or respiratory symptoms. Life-threatening complications such as gastric volvulus and perforation necessitate prompt diagnosis and surgical intervention. Postoperative management of complications like pleural effusion and sepsis is crucial for recovery.

This case highlights the importance of recognizing atypical CDH presentations. Early diagnosis and appropriate intervention are key to preventing severe outcomes and ensuring favorable recovery and long-term quality of life.