Brain white matter microstructural alterations in children of type I Gaucher disease characterized with diffusion tensor MR imaging

Objectives: To investigate white matter (WM) microstructural alterations in type I Gaucher disease (type I GD) pediatric patients and explore the correlation between the disease duration and WM changes. Methods: Twenty-two GD patients and twenty-two sex-and age-matched typical development (TD) children were recruited. Changes in WM were investigated using diffusion tensor imaging (DTI) and applying atlas-based tract analysis. For all DTI measurements, independent-samples t-test was applied to report significant differences between type I GD and TD. Partial correlation was applied to determine whether the disease duration was correlated with DTI measurements. Results: Bidirectional fractional anisotropy (FA) changes were found in the bilateral superior cerebellar peduncle, right posterior limb of the internal capsule, right posterior corona radiata, and right posterior thalamic radiation (p < 0.05). Higher mean diffusivity (MD) was found in the right superior corona radiata, middle cerebellar peduncle, right posterior thalamic radiation and right superior longitudinal fasciculus (p < 0.05) in type I GD. And higher radial diffusivity (RD) was also found in the left superior cerebellar peduncle (p < 0.05) in type I GD. The disease duration of type I GD patients is positively correlated with axial diffusivity and MD in multiple major WM tracts. Conclusion: DTI findings supported the microstructural alterations of multiple WM tracts in type I GD patients.