Increased brain apparent diffusion coefficient in children with neurofibromatosis type 1

To describe the changes in brain water diffusibility in five anatomic locations in children with neurofibromatosis type 1 (NF 1) compared with these changes in control subjects and to describe the water diffusibility changes associated with hyperintense basal ganglia lesions in children with NF 1.

Twenty highly related pairs of children consisting of one child with NF 1 and one unaffected child were examined. Prospective comparisons of isotropic apparent diffusion coefficient (ADC) values at five anatomic locations were performed, with and without T2-hyperintense lesions included. Retrospective analysis of hyperintense globus pallidus lesions in 16 children and in the paired control subjects also was performed.

Significant increases in ADC values were seen in all five anatomic locations in the NF 1 group. The greatest increases were seen in the globus pallidus (14%; P =.002) and brachium pontis (10.8%; P =.003). With exclusion of hyperintense lesions, significant ADC increases were measured in four locations. Significant ADC increases were seen in hyperintense globus pallidus lesions in the NF 1 group compared with ADC values in the normal-appearing contralateral globus pallidus (4.9%; P =.02) and those in the globus pallidus of the paired control subjects (16%; P =.003).

Significant ADC increases were measured both in the hyperintense lesions and in the normal-appearing areas of the brain in children with NF 1.