2.3. Bone Disease


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Most lysosomal storage diseases will have a degree of osteopenia or osteoporosis, there are several lysosomal storage diseases which have bone deformities in the form of cystic lesions, thin cortices, resorption of the bone, bone marrow infiltration. Patients can have dysostosis multiplex, which is a hallmark of lysosomal storage disease, and also deformities of the spine with scoliosis and gibbus.

 

 

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