Brain white matter abnormalities in paediatric Gaucher XXXX and Type III using diffusion tensor imaging.

@entity1 @entity51 @entity196 @entity1120 @entity1893 @entity2055
OBJECTIVE: Biomarkers to monitor @entity51 in @entity1120 ( @entity1120 ) are lacking. Diffusion tensor imaging (DTI) is a technique which allows us to probe the microstructure of the white-matter of the brain, in-vivo. The aim of this study was to investigate the value of DTI to visualise and quantify white matter integrity in @entity1 with @entity1120 and @entity196 Gaucher. DESIGN: DTI was performed and fractional anisotropy (FA), @entity1893 ( @entity1893 ), axial (  (axial)) diffusivity and radial (  (radial)) diffusivity maps calculated. Tract-based spatial statistics (TBSS) was used to perform a voxel-wise statistical analysis of the main white matter structures compared to age-sex matched control groups. SETTING: The study was performed at Great Ormond Street @entity1 's Hospital NHS Trust @entity1 : Four @entity1120 and three @entity196 Gaucher paediatric @entity1 were recruited RESULTS: The findings suggest the presence of microstructural white matter changes in @entity1120 @entity1 primarily in the middle cerebellar peduncles compared to an age-sex matched control group. This finding is relevant to the clinical manifestation of @entity2055 seen in @entity1120 . Diffuse non-specific changes were seen in the @entity196 @entity1 , but without a focal point. CONCLUSIONS: This study is the first to use DTI to examine the Gaucher brain. While the numbers studied are small, the results suggest that DTI may be an attractive surrogate marker of @entity1120 , worthy of further exploration for use in clinical studies.
