Sirolimus treatment of generalized lymphatic anomaly with a set of congenital defects

A 45-year-old man was admitted due to dyspnea and chronic productive cough. Since childhood, he had skin hyperkeratotic lymphatic malformation and bone cysts, associated with left leg hypotrophy. At the age of 8 years he underwent subclavian flap aortoplasty due to aortic coarctation. At the age of 23 years he was hospitalized for cardiac tamponade, during which video-assisted pericardioscopy was performed, draining 1000 ml of chylous fluid. Cytological analysis revealed lymphocytes and numerous fat droplets. Thoracic computed tomography showed ground-glass opacities with random distribution. Massive amounts of chylous sputum, with casts of bronchial tree, were evacuated during bronchoscopy. Lymphoscintigraphy disclosed two contrast-accumulating lesions in the upper mediastinum (Figure 1A- presentation of patient's congenital defects). A diagnosis of generalized