Value of bronchoalveolar lavage in lipidoses with pulmonary involvement

Abstract

Adult lipid storage disorders with pulmonary involvement are rare and usually diagnosed at autopsy. We report a patient with splenomegaly and reticulonodular pattern on lung computed tomography. Bronchoalveolar lavage was performed and revealed the presence of lipid-containing foamy cells, with the demonstration of both periodic acid-Schiff (PAS) and scharlach red stain positive vacuoles in the cytoplasm of alveolar macrophages. The same cells were found in bone marrow biopsy. As in other rare disorders, bronchoalveolar lavage may be of diagnostic value in lipid storage disorders with pulmonary involvement.