Hearing loss in mucopolysaccharidosis I–H (Hurler syndrome), a temporal bone report and systematic review

Abstract

Hurler Syndrome is a rare genetic disorder defined by error in metabolism of mucopolysaccharides, resulting in multiple otolaryngic abnormalities including hearing loss. We present a patient with Hurler syndrome (MPS 1-H), describe the histopathological findings in the ear and temporal bones, and review the literature with particular attention to the pathogenesis of hearing loss.