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Correlation between cerebral MRI abnormalities and mental retardation in patients with mucopolysaccharidoses
Orazio Gabrielli1, Gabriele Polonara, Luana Regnicolo
1Department of Pediatrics, University of Ancona, Ancona, Italy. o.gabrielli@mercurio.it
Abstract:
Mucopolysaccharidoses (MPSs) are a group of inherited disorders due to lysosomal enzyme deficiencies which lead to multi-organ accumulation of glycosaminoglycans. Some forms of MPS disorders are characterized by various degrees of mental retardation. Magnetic Resonance Imaging (MRI) is the primary imaging technique to detect CNS alterations. The aim of this study is to evaluate the correlation between white matter (WM) alterations and the presence of mental retardation. We analyzed 20 patients with different forms of MPSs, 11 with mental retardation and 9 with a normal cognitive function; all of them underwent brain MRI and received a score on the basis of the alterations (WM alterations; perivascular, subarachnoid, and ventricular space enlargement; abnormalities of the basal ganglia, of the corpus callosum and of the atlanto-axial joint). All patients with mental retardation presented severe WM alterations, while only five out of the nine subjects without mental retardation showed certainly WM abnormalities. As far as the other cerebral abnormalities are concerned, no difference between the two groups has been found. These data seem to show that there is a significant correlation between the presence of WM alterations and mental retardation.
Insights
Mucopolysaccharidoses (MPSs) are inherited disorders linked to mental retardation. Brain MRI reveals severe white matter (WM) alterations in MPS patients with cognitive impairment, suggesting a strong correlation.
Area of Science:
- Neurology
- Genetics
- Medical Imaging
Background:
- Mucopolysaccharidoses (MPSs) are inherited lysosomal storage diseases.
- Glycosaminoglycan accumulation in MPS can affect multiple organs, including the central nervous system (CNS).
- Some MPS forms are associated with cognitive impairment, including mental retardation.
Purpose of the Study:
- To investigate the relationship between white matter (WM) changes and mental retardation in MPS patients.
- To determine if specific CNS alterations on MRI correlate with cognitive status in MPS.
Main Methods:
- Brain Magnetic Resonance Imaging (MRI) was performed on 20 patients with various MPS types.
- Patients were categorized into two groups: 11 with mental retardation and 9 with normal cognitive function.
- MRI scans were scored for white matter alterations and other CNS abnormalities.
Main Results:
- All patients with mental retardation exhibited severe white matter alterations.
- Five out of nine patients without mental retardation showed some white matter abnormalities.
- No significant differences in other assessed cerebral abnormalities were found between the groups.
Conclusions:
- Severe white matter alterations on brain MRI are strongly correlated with mental retardation in patients with Mucopolysaccharidoses.
- MRI-detected WM changes may serve as a biomarker for cognitive impairment in MPS.
