Spinal involvement in mucopolysaccharidoses: a review

Abstract

Background: Mucopolysaccharidoses (MPS) represent a group of inheritable lysosomal storage diseases caused by mutations in the genes coding for enzymes involved in catabolism of different glycosaminoglycans (GAGs). They are clinically heterogeneous multisystemic diseases, often involving the spine. Bony abnormalities of the spine included in the so-called dysostosis multiplex and GAG deposits in the dura mater and supporting ligaments can result in spinal cord compression, which can lead to compressive myelopathy. Spinal involvement is a major cause of morbidity and mortality in some MPS (e.g., MPS IVA, VI, and I), and early radiological diagnosis is critical in preventing or arresting neurological deterioration and loss of function.

Discussion: Management of MPS, however, requires a multidisciplinary approach because of the multiorgan nature of the disease. Indeed in order to appreciate the relevance and nuances of each other's specialty, radiologists and clinicians need to have a background of common knowledge, rather than a merely compartmentalized point of view. In the interest of the management of spinal involvement in MPS, this review article aims on one hand to provide radiologists with important clinical knowledge and on the other hand to equip clinicians with relevant radiological semiotics.