Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine.

ABSTRACT

Mucopolysaccharidosis (MPS) is an inherited metabolic disorder of childhood, characterised by progressive multisystem involvement predominantly affecting the skeletal system leading to skeletal dysplasia. Mental retardation, neuropathy and cardiomyopathy may occur in the most severely affected patients, leading to progressive disability and death in their early third to fourth decades. The purpose of this paper is to illustrate the typical imaging features of different types of MPS, in particular the MR features of the brain and spine in MPS, which are expected to be encountered by radiologists more frequently in their clinical practice as a result of prolonged life expectancy for those with MPS with recent advances in therapeutic interventions. The treatment options and outcomes for MPS patients are also briefly discussed.