Congenital Diaphragmatic Hernia in Patient With 1p36 Deletion

Abstract Introduction Congenital Diaphragmatic Hernia (CDH) is a condition characterized by the protrusion of abdominal contents into the thoracic cavity due to a defect in the diaphragm. While typically observed in the neonatal period, CDH can present in later life. Case Presentation and Management This case report describes the presentation, diagnosis, and management of a nine-year-old boy with 1p36 deletion syndrome who presented with respiratory distress, abdominal pain, vomiting, and anorexia. The initial diagnosis was tension pneumothorax (Figure 1), and thus the patient underwent chest tube placement. However, a high-resolution CT scan revealed a left hemi diaphragmatic hernia, and the patient eventually underwent an emergency laparotomy due to acute-onset respiratory distress. Intraoperatively, a diagnosis of Bochdalek hernia with gastric perforation was made, and the CDH and gastric perforations were resolved successfully. Results and Conclusion This case highlights the importance of considering late-presenting CDH as a possible diagnosis in paediatric patients with similar symptoms and the radiological findings suggestive of tension pneumothorax. Early recognition and prompt surgical intervention can lead to the successful management of such cases.Figure 1.Preoperative Chest radiograph showing large hyperlucency, and the dimension were approximately 18 × 10 cm in the left hemithorax. A significant mediastinal shift to the right can be observed.