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 eight to 16 years underwent comprehensive neuropsychological, medical and neuroradiological assessments. MRI scans revealed a characteristic pattern of T2-weighted signals ('UBOs') located primarily in the basal ganglia, brainstem and cerebellum in 25 of the children. Reductions in global IQ, attention, and visuopatial and executive functions were shown to occur in association with the presence of UBOs. These findings establish a link between changes in neuropsychological functions and MRI abnormalities in NF-1, and further support neuropathological findings which suggest that UBOs may be a manifestation of delayed or disordered myelination.