PURPOSE: To describe the changes in brain water diffusibility in five anato
mic locations in children with neurofibromatosis type 1 (NF 1) compared wit
h these changes in control subjects and to describe the water diffusibility
changes associated with hyperintense basal ganglia lesions in children wit
h NF 1.
MATERIALS AND METHODS: Twenty highly related pairs of children consisting o
f one child with NF 1 and one unaffected child were examined. Prospective c
omparisons of isotropic apparent diffusion coefficient (ADC) values at five
anatomic locations were performed, with and without T2-hyperintense: lesio
ns 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 globu
s pallidus (14%; P = .002) and brachium pontis (10.8%; P = .003). With excl
usion of hyperintense lesions, significant ADC increases were measured in f
our locations. Significant ADC increases were seen in hyperintense globus p
allidus lesions in the NF 1 group compared with ADC values in the normal-ap
pearing contralateral globus pallidus (4.9%; P = .02) and those in the glob
us pallidus of the paired control subjects (16%; P = .003).
CONCLUSION: Significant ADC increases were measured both in the hyperintens
e lesions and in the normal-appearing areas of the brain in children with N
F 1.