LAUSR

Beta-mannosidosis is a rare autosomal recessive disorder due to the decrease in the activity of β-mannosidase in lysosomes, leading to the disorder of glycoprotein catabolism. Although the clinical manifestations of the disease have been heterogeneous, mental retardation, recurrent respiratory infections, hearing loss, and speech impairment are present in most patients. Herein, we report the first Chinese Han case mainly presented with recurrent pulmonary fungal infections, diffuse alveolar hemorrhage, and cystic lesions, which have not been described in literature. This article is protected by copyright. All rights reserved.