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Increased Brain Apparent Diffusion Coefficient in Children with Neurofibromatosis Type 1¹

¹ From the Departments of Radiology (J.D.E., D.J.F., J.F.M., J.M.P.), Biomedical Engineering (J.F.M.), and Community and Family Medicine, Division of Biometry (D.M.D.), Duke University Medical Center, Box 3808, Durham, NC 27710; and Department of Neurology, University of North Carolina School of Medicine, Chapel Hill (R.S.G.). Received May 31, 2000; revision requested July 17; revision received August 14; accepted September 11. J.D.E., J.M.F., R.S.G. supported in part by funds from National Institutes of Health grant NS 36-829. Address correspondence to J.D.E. (e-mail: eastw004@mc.duke.edu).

PURPOSE: 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.

MATERIALS AND METHODS: 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.

RESULTS: 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).

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

Index terms: Brain, abnormalities, 10.1831 • Brain, MR, 10.121411, 10.121413, 10.121416, 10.12144 • Children, central nervous system, 10.1831 • Magnetic resonance (MR), diffusion study, 10.12144 • Neurofibromatosis, 10.1831

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