[Recurrent spontaneous pneumothorax revealing Marfan's syndrome]

Introduction: Because of its rarity and lack of specific symptoms, the diagnosis of Marfan's syndrome can be delayed. Though cardiovascular, skeletal and ophthalmological manifestations are the most frequent features, the respiratory system can also be involved.

Observation: We report the case of a 35-year-old patient who presented with a large, right sided, encysted pyopneumothorax. The history revealed two episodes of spontaneous pneumothorax, cataract surgery ten years before his admission, and a similar case in the family. Clinical examination showed skeletal abnormalities of the wrist and thumb as well as deformity of the hindfoot with a flat foot. He had no characteristic thoracic deformity. Ophthalmologically, the right eye had a subluxed lens and the left eye had a totally subluxed cataract.

Conclusion: The development of the third episode of pneumothorax led to the diagnosis of Marfan's syndrome thanks to the patient's combination of symptoms. To avoid diagnostic delay, criteria were established in 1996 and revised in 2010 to ensure an early diagnosis of this condition.