Hurler Syndrome: A Case Report and a Review of the Literature

Abstract

Clinical manifestations of the different types of mucopolysaccharidosis vary from one type to another.MPS typeI show a chronic, progressive and multisystemicevolutionand Hurler syndrome remain the most severe form of mucopolysaccharidosis type I.The involvement of the central nervous system is characteristic and MRI remains the imaging of choice to assess cerebral and spinal cord abnormalities. [8]Certain diagnosisis only retained after biochemical proof of the enzyme deficiency.Some neuroimaging features are characteristic of Mucopolysaccharidosis. However, the correlation between them and disease severity remains controversial, without well-established imaging biomarkers at this time. The role of imaging is to evaluate disease progression and detect some complications particularly cord compression or massive hydrocephalus, so that the patient can benefit from early intervention before the installation of irreversible damage[8].Early diagnosis remains a key success factor essential to prevent the appearance of irreversible lesions and increase the benefits of treatment.