Familial spontaneous pneumothorax

Abstract
A female infant was born in good condition at term by emergency caesarian section after a normal pregnancy. She had a spontaneous right sided tension pneumothorax within a few minutes of birth. The pneumothorax was drained. There was no evidence of surfactant deficiency on any of the initial chest radiographs. After discharge she went on to have three other episodes of spontaneous pneumothorax until 3 years of age. At 11 years of age she is now clinically well and does not show any signs of collagen disorders. Investigations have excluded cystic fibrosis, homocystinuria, and α1 antitrypsin deficiency.