Skeletal Abnormalities in Lysosomal Storage Diseases

Many of the lysosomal storage diseases (LSDs) have skeletal abnormalities causing significant morbidity. Dysostosis multiplex describes a constellation of radiographic skeletal findings that are helpful in diagnosing many of the LSDs, particularly the mucopolysaccharidoses (MPS). This review discusses the clinical and radiographic skeletal manifestations of various LSDs with an emphasis on disorders that have significant skeletal involvement (eg, MPS disorders, mucolipidosis type II and Iil, Gaucher). Enzyme replacement therapy (ERT) for several of the LSDs has been beneficial for many of the clinical manifestations, but efficacy with regard to the skeletal abnormalities is not as obvious. As the pathophysiology of the skeletal abnormalities associated with LSDs becomes better elucidated, investigators will likely develop improved therapies to specifically target bone and alleviate the skeletal problems.