Spondyloepiphyseal Dysplasia Secondary to Morquio Syndrome (Mucopolysaccharoidosis IV): A Case Report.
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Morquio syndrome an autosomal recessive mucopolysaccharoidosis (MPSs) including Type IVA, a deficiency of N-acetylgalctosamine-6- sulfatase and Type IVB a deficiency of β-galactosidase. Plain films of the entire spine, pelvis, chest, knees, hip, and knees demonstrated the characteristic skeletal changes of this disease. The main abnormalities were platyspondyly, genu valgum deformity. Radiographs are crucial to provide substantial information about evolution of the skeletal and joints changes, and the rehabilitation strategies to be followed. From detailed history, physical examination, investigations, and treatment, different clinical, radiographic and biochemical studies it is clear that Morquio’s disease is an inherited error of MPS metabolism characterized by deficiency of galactose 6-sulfate sulfatase activity.
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2015
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