Hurler syndrome: a case report

Abstract

Hurler syndrome is an inherited disorder of mucopolysaceharide metabolism, which is caused by a defect in genetically controlled pathways of lysosomal degradation. It represents the classical prototype of mucopolysaccharide disorder. An interesting case of a three and a half-year old boy with a rare combination of skeletal, neurological, ophthalmologic, and dental findings is presented. It is a rare syndrome with a very low prevalence of 1:100000 births and as such the clinician should be aware of this syndrome.