mucopolysaccharidosis iv/dyspnea

Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve

A 25-year-old male with the severe form of Maroteaux-Lamy disease (mucopolysaccharidosis VI-A) developed rhinoliquorrhea of undetermined origin. The head was held permanently in extension, and there was both inspiratory and expiratory stridor. Flexion of the head worsened the stridor and caused

A 44-year-old woman underwent a Ross procedure for severe aortic regurgitation at the age of 32 years. She had been diagnosed in childhood with spondyloepiphyseal dysplasia and a bicuspid aortic valve. At surgery, a tricuspid aortic valve with chondroid metaplasia and fibrosis was reported.