The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders

LA Clarke, CEM Hollak - Best practice & Research clinical endocrinology & …, 2015 - Elsevier
Lysosomal storage disorders affect multiple organs including the skeleton. Disorders with
prominent skeletal symptoms are type 1 and 3 Gaucher disease, the
mucopolysaccharidoses, the glycoproteinoses and pycnodysostosis. Clinical manifestations
range from asymptomatic radiographical evidence of bone pathology to overt bone crises
(Gaucher), short stature with typical imaging features known as dysostosis multiplex (MPS),
with spine and joint deformities (mucopolysaccharidoses, mucolipidosis), or osteopetrosis …