Hurler Syndrome or Mucopolysaccharidosis Type I is a rare genetic disorder in which an enzyme deficiency causes deposition of glycosaminoglycans in body cells, which then are severely impaired in their function.
Among many other things, Hurler Syndrome can lead to spinal canal stenosis and later to spinal cord compression which may resemble CCI symptoms. Moreover, actual instability of the c-spine may occur.
Skeletal abnormalities such as hip dysplasia, gibbus, carpal tunnel syndrome, spondylolisthesis
Hearing and vision problems
ENT problems such as otitis, pulmonary infections
Heart valve regurgitation
Alpha-L-Iduronidase in blood
Bone marrow transplantation
Clarke LA, Heppner J. Mucopolysaccharidosis type I.
Brill CB, Rose JS, Godmilow L, S Sklower, Willner J, K. Hirschhorn Spastic quadriparesis due to C1-C2 subluxation in Hurler syndrome. The Journal of pediatrics. 1978 Mar 31; 92 (3): 441-3.