Congenital diaphragmatic hernia in patient with 1p36 deletion

This case underscores the atypical presentation of late-onset congenital diaphragmatic hernia in a 9-old with 1p36 deletion syndrome. Recognition of respiratory distress and abdominal symptoms is crucial for intervention.

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. 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, and thus the patient underwent chest tube placement. However, a high-resolution CT scan revealed a left hemidiaphragmatic 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. This case highlights the importance of considering late-presenting CDH as a possible diagnosis in pediatric patients with similar symptoms and the radiological findings suggestive of tension pneumothorax. Early recognition and prompt surgical intervention can lead to successful management of such cases.