Is the Blau syndrome gene a major risk factor for sarcoidosis?
While the clinical similarities between Blau Syndrome and sarcoidosis suggest genetic homogeneity between the disorders, we found no evidence for linkage of sarcoidosis to the Blau syndrome locus. Our exclusion results suggest that the Blau Syndrome gene does not have a major effect on sarcoidosis susceptibility.
We found a significant increase in FA and decrease in MD in children with BEH compared with normal children in specific white matter (WM) ROIs, notably in the gCC and sCC; furthermore, in longitudinal comparison, DTI parameters normalized over time. The current study further demonstrates the ability of DTI to distinguish between subtle diffusion changes in periventricular white matter and establishes preliminary objective radiographic parameters for watchful observation of patients with BEH.