Bacteriologically Confirmed Pulmonary Tuberculosis in a Patient with Lymphangioleiomyomatosis Accompanying Tuberous Sclerosis Syndrome

Lymphangioleiomyomatosis (LAM) is a rare disease of unknown origin, that may be sporadic or develop in the course of tuberous sclerosis (TS). Patients do not present immune deficiency, but structural changes in the lung parenchyma (cysts) may encourage various infections, for example tuberculosis. Radiologic findings are often difficult to interpret, because of changes related to LAM itself. We present a young women with a history of TS and LAM in whom protracted respiratory tract infection was finally diagnosed as tuberculosis. Initial diagnosis was based primarily on clinical signs and symptoms and treatment was started despite a negative result of sputum microscopy for acid-fast bacilli. In the course of treatment, the diagnosis was supported by genetic test for M. tuberculosis in bronchoalveolar lavage fluid, positive tuberculin skin test, interferon-gamma release assay and finally, positive sputum culture in liquid media.