Clinical and Neuroradiological Aspects of the Different Types

Abstract

The different types (I–VII) of mucopolysaccharidoses (MPS), a hereditary lysosomal storage disorder where the enzyme defect leads to glycosaminoglycan deposits in different tissues, present with characteristic lesions of the central nervous system (CNS). This review reports the CT and MRI findings of patients suffering from mucopolysaccharidosis in the context with aspects of biochemistry, pathophysiology, histological findings and clinical course. Neuroradiological findings include hydrocephalus, focal or global brain atrophy, and spinal cord compression at the atlantoaxial joint. Cribriform white matter lesions, corresponding to mucopolysaccharide deposition in the enlarged perivascular space, combined with leukencephalopathy are found in about half of the patients. Another half of the patients show minor to severe myelopathy at the atlantoaxial joint due to cervical cord compression. These findings are observed mainly in patients with MPS type IV, but as well in nearly all patients with MPS type VI. In the literature brain involvement is described exclusively in MPS type I, II and III, but the authors show definite demyelination and widening of the perivascular space in a number of patients with MPS type VI, who additionally suffered from progressive visual deficits, caused by ocular and/or optic nerve involvement.