engleski

Mucopolysaccharidosis: diagnosis and treatment of orthopedic problems

Mucopolysaccharidosis (MPS) is a group of multisytemic recessively inherited diseases that are characterized with abnormal lysosomal storage. The substantial majority of patients with MPS have prominent musculoskeletal features commonly known as dysostosis multiplex. Almost all patients with MPS may have progressive and disabling orthopedic problems, but individuals with Hurler syndrome and Morquio syndrome are particularly affected. These problems are prominent in different anatomic regions e.g.: spine, pelvis, hips, knees and hands. A clinician should be capable to recognize and evaluate potentially progressive ortopedic problems. On the baiss of early experience with six patients with MPS, clinical and radiographic signs will demonstrate the possibility of timely recognition of orthopedic problems. Results of surgical correction of the functional deficit will demonstrate the philosophy of surgical treatment in patients with MPS.

mucopolysaccharidosis; skeletal deformities; orthopedic problems

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