Neuroradiological Characteristics in Patients with Mucopolysaccharidosis Type II: A Systematic Review

Abstract

Introduction: Mucopolysaccharidosis (MPS) is an inherited metabolic disorder that is part of the lysosomal disorders; the main characteristic is the deficiency of lysosomal enzymes responsible for the degradation of glycosaminoglycans except for type II or Hunter syndrome, which is X-linked recessive inheritance. Neurological symptoms are Down syndrome, carpal tunnel, communicating hydrocephalus, spinal cord compression, and hearing loss. Neuroimaging plays a fundamental role in the diagnosis of central nervous system (CNS) involvement, as well as the assessment of complications such as hydrocephalus and spinal cord compression. Objective: To determine the characteristic findings of neuroimaging diagnostic aids in patients with MPS type II or Hunter's disease. Methodology: The recommendations of the Cochrane Collaboration [Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA)] were followed. The bibliographic search was carried out in PubMed, Embase, Scopus, and ScienceDirect. Considering all the publications made up to 13th May 2018. Results and discussion: A total of 19 articles of the 723 results obtained were considered. Neuroradiological studies in patients with MPS type II still do not report clear and specific patterns of this pathology. Decreased contrast between the cortex and the underlying white matter has been reported; however, another study stated that these changes were secondary to demyelination or gliosis, manifestations that are not pathognomonic of MPS II. Ventricular dilatation is also a constant in patients with MPS II, which seems to be related to a cognitive disability; larger studies are still needed to confirm this association. Conclusion: Patients with MPS type II have a variety of abnormalities that are reflected in neuroradiological manifestations. The most significant findings of these patients included changes in gray and white matter signaling, cerebral atrophy, ventriculomegaly, increased perivascular space, increased subarachnoid space, and changes in the craniocervical junction. These characteristics must be strictly monitored both in the routine review and in the evaluation of responses to new therapeutic strategies.

Keywords

• diagnostic imaging
• hunter syndrome
• mucopolysaccharidosis ii