Musculoskeletal anomalies in children with Mucopolysaccaridoses

Müller F., Alomar K., Journeau P.


The accumulation of glycosaminoglycan (GAGs) in the tissues in Mucopolysaccharidoses (MPS) can lead to skeletal anomalies (DYSOSTOSIS MULTIPLEX) and to soft tissue impairments (neural or medullar compression, joint stiffness, tenosynovitis). Here is a review of orthopedic issues frequently encountered in patients with MPS.
Material and methods
Surgery may be justified at different age and according to the type of MPS. Different surgical approaches and their indications are exposed in the article.
The article exposes indications and techniques for orthopedic issues in MPS children: cervical stenosis, cervical instability, kyphosis, hip dysplasia and hip dislocation, genu valgum.
Various musculoskeletal anomalies can be found in patients with mucopolysaccharidoses. Neurological impairments are frequently seen due to cervical stenosis or instability and should be early detected with regular MRI of the cervical spine. Well-codified management should lead to favorable functional results and maintain functional and walking abilities.


mucopolysaccharidoses, musculoskeletal anomalies, orthopedic surgery

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