Clinical challenges and management of late presenting congenital diaphragmatic hernia mimicking tension pneumothorax in a child: a case report and review of literatures

BackgroundCongenital diaphragmatic hernia(CDH) is a rare congenital anomaly characterized by herniation of abdominal contents into thoracic cavity through a defect in diaphragm. While commonly diagnosed prenatally or in neonatal period, late-presenting CDH can occur and may mimic other thoracic emergencies such as tension pneumothorax, complicating diagnosis and management.Case presentationA two-year old male black child from Ethiopia presented to the emergency department with sudden onset of acute respiratory distress. Initial clinical assessment and chest radiography suggested a diagnosis of tension pneumothorax due to the presence of significant mediastinal shift and apparent pleural air. Despite insertion of chest tube, the child's condition did not improve, raising suspicion of alternative diagnosis. Careful observation of initial chest x-ray and subsequent chest ultrasound revealed a left sided congenital diaphragmatic hernia with herniation of stomach and intestine into thoracic cavity compressing the left lung and causing mediastinal shift. After the diagnosis of CDH was confirmed, the child was stabilized and emergent surgical repair performed. Postoperative recovery was uneventful, and the child was discharged with no significant long-term complications.ConclusionThis case underscores the importance of considering CDH in the differential diagnosis of acute respiratory distress in a child. It highlights the diagnostic challenges and potential risks of emergency interventions based on initial misdiagnosis. Even if x -ray looks like typical of tension pneumothorax, it showed giant cystic air filled structure pushing the mediastinal structure to contralateral side with loss of left diaphragmatic outline which raised suspicion of congenital cystic lung mass or congenital diaphragmatic hernia. Advanced imaging and high index of suspicion are crucial for accurate diagnosis and timely management, ultimately improving patient outcomes. Consideration of alternative diagnosis when our initial intervention with insertion of chest tube fail to provide symptom improvement in suspected pneumothorax should raise suspicion of congenital diaphragmatic hernia like in our case.