[Pulmonary phenotypes of inborn errors of metabolism].

Inborn metabolic diseases or inborn errors of metabolism comprise a large number of rare and heterogeneous genetic diseases categorized in several subgroups depending on their pathophysiologic mechanisms. In this review, we focus on different metabolic diseases with respiratory symptoms in adults: lysosomal glycosphingolipidoses such as acid sphingomyelinase deficiency (Niemann-Pick types A and B disease), Gaucher, Fabry, Pompe diseases and mucopolysaccharidoses in general. We also address classical homocystinuria, which is a monogenic vascular disease, Hermansky-Pudlak syndrome, which is associated with disorders in the lysosomal-related-organelles, and lysinuric protein intolerance, which is due to an amino-acid transporter defect.

[Pulmonary lymphangioleiomyomatosis in a menopaused woman].

We report an unusual case of pulmonary lymphangioleiomyomatosis in a menopaused woman who had been taking estrogen hormone replacement therapy for several years. The characteristic feature of this uncommon disease is a proliferation of non-tumoral abnormal smooth muscle cells within the alveolar walls, and around the bronchi, lymph nodes and blood vessels. About twenty cases of pulmonary lymphangioleiomyomatosis have been described in menopaused women, who generally were taking estrogen hormone replacement therapy.