Hurler Syndrome

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.


Short stature

Skeletal abnormalities such as hip dysplasia, gibbus, carpal tunnel syndrome, spondylolisthesis


Joint contractures

Hearing and vision problems

ENT problems such as otitis, pulmonary infections

Heart valve regurgitation

Cervical myelopathy

Diagnostic testing:

Alpha-L-Iduronidase in blood

Genetic testing


Bone marrow transplantation

Enzyme replacement


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.