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Marfan syndrome presenting with diffuse emphysematous change of the lung
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A 29-year-old never-smoking woman who had been diagnosed with Marfan syndrome at 9 years of age was admitted with persistent exertional dyspnoea. She had previously developed pneumothorax three times and underwent scoliosis surgery and aortic valve replacement. A physical examination revealed a thin, healthy-appearing woman (body mass index 16.4 kg/m2) with pectus excavatum and joint hyperflexibility.
Chest radiography (figure 1) and CT (figure 2) showed severe spinal deformity and diffuse emphysematous …