Apical pulmonary lesions due to Marfan syndrome misdiagnosed as pulmonary tuberculosis.

N Z Med J 123(1318):67-72 (2010) PMID 20651869

A 55-year-male with chest symptoms and apical pulmonary lesions was diagnosed as a case of sputum smear-negative pulmonary tuberculosis at a peripheral health centre in India on the basis of Revised National Tuberculosis Control Programme Guidelines--he was put on antitubercular chemotherapy. He had no radiological or clinical improvement with antitubercular treatment, so the patient was referred to our institute. On evaluation, we found that the patient had multisystem involvement with typical features of Marfan syndrome and a suggestive history in other blood-relatives. Upper lobe fibrosis, bronchiectasis, emphysematous changes, multiple blebs, small pneumothorax, pleural fibrosis and pleural thickening were seen which were due to Marfan syndrome rather than tuberculosis. The present case seems to signify the search for alternative aetiologies in similar clinico-radiological presentations if, after 3 months, cultures for Mycobacterium are still negative (despite sputum induction and/or bronchoscopy with biopsies) and the patient is having no radiological improvement.