[P2-32] Bilateral spontaneous pneumothorax in a patient with Marfan syndrome
An 8-year-old girl with Marfan syndrome was admitted to our hospital with cough, respiratory distress and chest pain during influenza viral infection. Marfan syndrome had been diagnosed at 5 years of age, based on aortic root enlargement (Z-score, 5.43), ectopia lentis, a pathogenic FBN1 gene mutation and a systemic score of 7. Chest radiographs showed right spontaneous pneumothorax. Right chest drainage was performed and clinical symptoms improved. Two days later, dyspnea and chest pain relapsed and additional chest radiographs showed left spontaneous pneumothorax. Left chest drainage was performed and clinical symptoms improved. Chest computed tomography showed bullae in bilateral upper lung lobes. Two months later after discharging from the hospital, left spontaneous pneumothorax reoccurred with cough and partial resection of the left lung was performed. Marfan syndrome is a systemic disorder of the connective tissue. Mutations to FBN1 are the only pathogenesis, and FBN1 encodes the connective protein fibrillin-1. Clinical manifestations involve the eyes, bones, cardiovascular system, dura, skin and lungs. Spontaneous pneumothorax occurs frequently (4.8-11%) in Marfan syndrome, and can be bilateral and recurrent. Destructive emphysema is evident in aged mice with mutations in FBN1. Clinically, chest computed tomography to identify bullae may allow risk stratification for pneumothorax in patients with Marfan syndrome. Although the prognosis of Marfan syndrome depends on the presence of cardiovascular complications, the possibility of spontaneous pneumothorax should also be considered if patients with Marfan syndrome present with respiratory symptoms such as cough, dyspnea and chest pain.