XXXX : further clinical and neuroradiological characterization.

@entity1 @entity1032 @entity410 @entity66552 @entity75 @entity73 @entity294 @entity2185 @entity71029 @entity2421 @entity76 @entity209 @entity20833 @entity121 @entity2055 @entity4653
@entity75 ( @entity75 ) is a rare @entity209 with an autosomal recessive mode of inheritance that is clinically characterized by neuromotor delay, @entity2185 , recurrent petechiae, @entity20833 , and chronic @entity294 . Increased urinary levels of @entity71029 and @entity66552 are the main biochemical features of the disorder. We report on two @entity1 affected by @entity75 who showed different clinical and neuroradiological patterns. @entity1 1 presented with a chronic clinical course characterized by @entity73 , @entity2055 , and @entity4653 . In contrast, @entity1 2 had an acute neonatal onset with severe @entity1032 , severe generalized @entity2421 , and intractable @entity410 . Neuroradiological follow-up of @entity1 1 detected a diffuse hyperintensity on the T2 images at the basal ganglia which remained stable during a period of four years. @entity1 2, in contrast, showed a rapid process of cerebral, and in part, @entity76 . On the basis of our observations, we reviewed the data published in the literature and tried to delineate the natural history of @entity75 , which appears to be characterized by a wide spectrum of severity in the clinical course. No reports on neuroradiological follow-up of @entity75 @entity1 are available in the literature with which to compare our data. Finally, both @entity1 showed a @entity121 . The pathogenetic implications of such a biochemical finding will be also discussed.
