NEUROPSYCHOLOGICAL FUNCTION AND MRI ABNORMALITIES IN NEUROFIBROMATOSIS TYPE-1

This study investigated the relationship between MRI abnormalities and cognitive function in neurofibromatosis type 1. 40 children aged eigh t to 16 years underwent comprehensive neuropsychological, medical and neuroradiological assessments. MRI scans revealed a characteristic pat tern of T-2-weighted signals ('UBOs') located primarily in the basal g anglia, brainstem and cerebellum in 25 of the children, Reductions in global IQ, attention, and visuopatial and executive functions were sho wn to occur in association with the presence of UBOs. These findings e stablish a link between changes in neuropsychological functions and MR I abnormalities in NF-1, and further support neuropathological finding s which suggest that UBOs may be a manifestation of delayed or disorde red myelination.