Abstrakt
Objective: Despite profound neurological symptomatology there are only few MRI studies focused on the brain abnormalities in alpha-mannosidosis (AM). Our aim was to characterize brain MRI findings in a large cohort of AM patients along with clinical manifestations.
Methods: Twenty-two brain MRIs acquired in 13 untreated AM patients (8 M/5F; median age 17 years) were independently assessed by three experienced readers and compared to 16 controls. Results: Focal and/or diffuse hyperintense signals in the cerebral white matter were present in most (85%) patients.
Cerebellar atrophy was common (62%), present from the age of 5 years. Progression was observed in two out of 6 patients with follow-up scans.
Cortical atrophy (62%) and corpus callosum thinning (23%) were already present in a 13-month-old child. The presence of low T-2 signal intensity in basal ganglia and thalami was excluded by the normalized signal intensity profiling.
The enlargement of perivascular spaces in white matter (38%), widening of perioptic CSF spaces (62%), and enlargement of cisterna magna (85%) were also observed. Diploic space thickening (100%), mucosal thickening (69%) and sinus hypoplasia (54%) were the most frequent non-CNS abnormalities.
Conclusion: White matter changes and cerebellar atrophy are proposed to be the characteristic brain MRI features of AM. The previously reported decreased T-2 signal intensity in basal ganglia and thalami was not detected in this quantitative study.
Rather, this relative MR appearance seems to be related to the diffuse high T-2 signal in the adjacent white matter and not the gray matter iron deposition that has been hypothesized.