Abstract

ROCHA, Susana; PEREIRA, Luísa  and  BARRETO, Celeste. Spontaneous pneumothorax - a clue to another diagnosis. Rev Port Pneumol [online]. 2008, vol.14, n.5, pp.699-704. ISSN 0873-2159.

Marfan syndrome is an autosomal dominant illness of the connective tissue, with typical skeletal, ocular and cardiovascular manifestations. Less frequently, pulmonary involvement occurs, namely spontaneous pneumothorax, which generally is recurrent and occurs in 4 -11% of cases. The authors describe a 14 -year -old boy, previously healthy, admitted with a unilateral spontaneous pneumothorax, and clinical phenotype of Marfan syndrome. The subsequent investigation led to the diagnosis of mitral valve prolapse and dilatation of the root of aorta. Pneumothorax resolved through active drainage and a computerised tomography scan excluded subpleural blebs. The patient was readmitted two months later with a new spontaneous pneumothorax, with an identical localization. Surgical resection of a newly identified enfisematous bleb and pleurodesis were performed. Two years later he is asymptomatic. We highlight the importance of an early diagnosis of and a multidisciplinary approach to these patients. Monitoring illness progression and prevention of serious complications, namely cardiovascular, are essential.

Keywords : Spontaneous pneumothorax; Marfan syndrome; diagnosis; management.

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