XXXX neuroradiological findings.

@entity1 @entity72422 @entity17 @entity10707 @entity1051 @entity16441 @entity73 @entity9479 @entity854 @entity194 @entity76 @entity21 @entity62
Variant B1 is a rare type of @entity10707 . Clinically, it shows a wide spectrum of forms ranging from infantile to juvenile. We report the first magnetic resonance imaging (MRI) findings from three @entity1 affected by @entity72422 , two presenting with the infantile form and one with the juvenile form. The MRI appearances of the two @entity1 with the @entity16441 are congruent with those reported for the early-onset type of both @entity1051 , and are characterized by early involvement of the basal ganglia and thalamus with cortical @entity194 appearing later. In contrast, the @entity1 with the juvenile form of variant B1 showed progressive @entity62 of the supratentorial structures and, to a lesser extent, the infratentorial structures. No basal @entity9479 were observed. Because in the adult forms of both @entity1051 a @entity76 represents the only abnormality detectable, it appears that an MRI pattern peculiar to @entity10707 can be defined. This pattern ranges from the @entity21 associated with the early and severe @entity17 process noted in the infantile form of the disease, to @entity76 with no supratentorial anomalies in the adult form. An "intermediate" MRI picture, with cortical @entity194 and mild @entity76 , but without basal @entity73 , can be observed in the juvenile form. In addition, our investigations suggest that @entity854 in @entity10707 correlate with the clinical form of the disease rather than with the biochemical variant of the enzymatic defect.
