Brain white matter microstructural alterations in children of type I Gaucher disease characterized with diffusion...

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.

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.

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.

DTI findings supported the microstructural alterations of multiple WM tracts in type I GD patients.