Diffusion tensor MR imaging in neurofibromatosis type 1: expanding the knowledge of microstructural brain abnormalities

Background Neurofibromatosis type 1 (NF1) is a hereditary disease with a dominant autosomal pattern. In children and adolescents, it is frequently associated with the appearance of T2-weighted hyperintensities in the brain’s white matter. MRI with diffusion tensor imaging (DTI) is used to detect whi...

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Published in:Pediatric radiology Vol. 42; no. 4; pp. 449 - 454
Main Authors: Ferraz-Filho, José R. L., da Rocha, Antônio J., Muniz, Marcos P., Souza, Antônio S., Goloni-Bertollo, Eny M., Pavarino-Bertelli, Érika C.
Format: Journal Article
Language:English
Published: Berlin/Heidelberg Springer-Verlag 01-04-2012
Springer Nature B.V
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Summary:Background Neurofibromatosis type 1 (NF1) is a hereditary disease with a dominant autosomal pattern. In children and adolescents, it is frequently associated with the appearance of T2-weighted hyperintensities in the brain’s white matter. MRI with diffusion tensor imaging (DTI) is used to detect white matter abnormalities by measuring fractional anisotropy (FA). Objective This study employed DTI to evaluate the relationship between FA patterns and the findings of T2 sequences, with the aim of improving our understanding of anatomical changes and microstructural brain abnormalities in individuals with NF1. Materials and methods Forty-four individuals with NF1 and 20 control subjects were evaluated. The comparative analysis of FA between NF1 and control groups was based on four predetermined anatomical regions of the brain hemispheres (basal ganglia, cerebellum, pons, thalamus) and related the presence or absence of T2-weighted hyperintensities in the brain, which are called unidentified bright objects (UBOs). Results The FA values between the groups demonstrated statistically significant differences ( P  ≤ 0.05) for the cerebellum and thalamus in patients with NF1, independent of the occurrence of UBOs. Conclusions Diffusion tensor MR imaging confirms the influence of UBOs in the decrease of FA values in this series of patients with NF1. Additionally, this technique allows the characterization of microstructural abnormalities even in some brain regions that appear normal in conventional MR sequences.
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ISSN:0301-0449
1432-1998
DOI:10.1007/s00247-011-2274-1