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 1:100,000 births and as such the clinician should be aware of this syndrome.
No takes yet. Share an insight, caveat, or question.
Thomas et al. (2000) studied this question.
Synapse has enriched 5 related papers. Consider them for comparative context: