Clinical presentation of air leak in an infant with undiagnosed cystic fibrosis: a case report

Introduction Air leak is a well-recognized complication of advanced cystic fibrosis in older children and adults but is extremely rare in infants. To the best of our knowledge, this is the youngest reported pediatric case of an air leak from a major airway. Case presentation A 4-month-old Yamani baby girl with a family history of cystic fibrosis initially presented with a history of a persistent paroxysmal cough for 3 weeks and vomiting for 1 week. Laboratory evaluation indicated pseudo-Bartter’s syndrome. Imaging showed a tracheal tear with pneumomediastinum and subcutaneous emphysema that was treated conservatively. Conclusions This case highlights the possibility of air leak in the population of young patients with cystic fibrosis and it shows a successful conservative management of tracheal tear. Physicians should consider cystic fibrosis in infants presenting with air leak.