Quantitative microstructural cerebral changes in neurofibromatosis type 1

To evaluate microstructural cerebral changes in children with neurofibromatosis type 1 (NF1) based on T₂ relaxation time measurements at 3Tesla.

From our dataset of pediatric MRI examinations at 3T 19 pediatric NF1 patients (1.9-14.3 years of age, 9 girls, 10 boys) were retrospectively selected and compared with the previously published group of 44 healthy children (0-16 years of age). MRI examination included a triple echo TSE sequence as basis for T₂ maps. T₂ relaxation times were measured in 37 brain regions.

Compared with healthy controls, T₂ relaxation times had the tendency to be increased by 1.01% (GM) to 11.85% (dentate nucleus) for NF1 patients. Only in posterior limb of the internal capsule and parietooccipital white matter values were reduced. No differences were observed between both hemispheres. Overall, no strong evidence supporting a difference between NF1 patients with and without optic glioma or with normal and impaired neuropsychological development was observed.

Using T₂ relaxation times it was possible to describe measurable microstructural differences in multiple brain regions between NF1 patients and healthy children regardless of whether signal abnormalities were visible on conventional images.