Morquios Syndrome: A Rare Case Report

Morquio’s syndrome is an autosomal recessive disorder caused by deficiency of N-acetylgalactosamine-6-sulfate. It was first described in 1929 by Morquio and Brailsford. Morquio’s syndrome is characterized by a defect in the degradation of keratin sulfate resulting in the accumulation of mucopolysaccharides. At birth, a patient with Morquio’s syndrome may appear healthy, however as the child grows into adulthood, various manifestations of this syndrome begin to emerge. Diagnosis is typically based on clinical examination, radiographs, urinary GAG tests, and the enzymatic activity of N-acetylgalactosamine-6 sulfatase in blood cells or fibroblasts. Once it is diagnosed, MS requires a multidisciplinary approach to patient care.