Internationale Zeitschrift für Physikalische Medizin und Rehabilitation
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Abstrakt

Spectrum of Skeletal and Non-Skeletal Manifestations of Morquio A Syndrome in an Adult: A Case Report

Sharma VP and Sharma K Arvind

Morquio syndrome is an autosomal recessive mucopolysaccharidosis which includes type IVA, a deficiency of the enzyme N-acetylgalactosamine-6-sulfatase and type IVB a deficiency of β-galactosidase. We report a 28-year-old Indian male patient affected by Morquio A syndrome demonstrating the characteristic musculoskeletal and nonskeletal manifestations of this disease on clinical and radiological examination. Digital x-ray of the spine, pelvis, chest and knees together with magnetic resonance imaging of the entire spinal column were done. The main abnormalities were atlantoaxial subluxation, anterior beaking of the vertebrae with thoracolumbar kyphosis, platyspondyly, hypoplasia of the odontoid process, short thorax with wide anterior posterior diameter, genu valga deformity and severe multiple degenerative changes of the hips, knees, and ankle joints. Based on clinical findings and radiological features it is possible to diagnose a case of Morquio A syndrome. Nonskeletal abnormalities may also provide key insight into the clinical diagnosis of MPS IVA. Careful and systemic approach is needed to accurately diagnose the exact type as enzymatic studies are not available in most centers. Radiological examination is crucial for assessment of the skeletal and joints changes, and the rehabilitation strategies to be followed.