Morquio Disease with Bicuspid Aortic Valve-A Case Report

Morquio disease (MPS IV) is an autosomal recessive disease caused by deficiency of N-acetyl galactosamine-6-sulfatase (MPS IV A) or, of β-galactosidase (MPS IV B). The key symptoms found in patients with MPS IV A include musculoskeletal abnormalities and limited growth. Musculoskeletal abnormalities include pectus carinatum, genu valgum, kyphosis, atlanto-axial subluxation and joint laxity. Typical clinical findings and radiological picture provides clue for diagnosis of Morquio's disease. Urinary mucopolysccharides assay is the screening test for diagnosis while this can be confirmed by enzymatic and molecular study. Bicuspid aortic valve is a rare finding in Morquio disease.