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

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Abstract

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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References

  1. Riccardi VM (1992) Neurofibromatosis phenotype, natural history and pathogenesis. Johns Hopkins University Press, Baltimore

    Google Scholar 

  2. Mentzel HJ, Seidel J, Fitzek C et al (2005) Pediatric brain MRI in neurofibromatosis type I. Eur Radiol 15:814–822

    Article  PubMed  Google Scholar 

  3. U.S. Dept. of Health and Human Services (1987) Neurofibromatosis. NIH Consensus Development Program. Available via http://consensus.nih.gov/1987/Neurofibromatosis064html.htm. Accessed 25 Aug 2011

  4. Mulvihill JJ, Parry DM, Sherman JL et al (1990) NIH conference neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis): an update. Ann Intern Med 113:39–52

    PubMed  CAS  Google Scholar 

  5. DeBella K, Poskitt K, Szudek J et al (2000) Use of “unidentified bright objects” on MRI for diagnosis of neurofibromatosis 1 in children. Neurology 54:1646–1651

    PubMed  CAS  Google Scholar 

  6. Sevick RJ, Barkovich AJ, Edwards MS et al (1992) Evolution of white matter lesions in neurofibromatosis type 1: MR findings. AJR 159:171–175

    PubMed  CAS  Google Scholar 

  7. Curless RG (2000) Use of “unidentified bright objects” on MRI for diagnosis of neurofibromatosis 1 in children. Neurology 55:1067–1068

    PubMed  CAS  Google Scholar 

  8. DiPaolo DP, Zimmerman RA, Rorke LB et al (1995) Neurofibromatosis type 1: pathologic substrate of high signal intensity foci in the brain. Radiology 195:721–724

    PubMed  CAS  Google Scholar 

  9. Kraut MA, Gerring JP, Cooper KL et al (2004) Longitudinal evolution of unidentified bright objects in children with neurofibromatosis-1. Am J Med Gen A 129:113–119

    Article  Google Scholar 

  10. Itoh T, Magnaldi S, White RM et al (1994) Neurofibromatosis type 1: the evolution of deep gray and white matter MR abnormalities. AJNR 15:1513–1519

    PubMed  CAS  Google Scholar 

  11. Mamata H, Mamata Y, Westin CF et al (2002) High-resolution line scan diffusion tensor MR imaging of white matter fiber tract anatomy. AJNR 23:67–75

    PubMed  Google Scholar 

  12. Zamboni SL, Loenneker T, Boltshauser E et al (2007) Contribution of diffusion tensor MR imaging in detecting cerebral microstructural changes in adults with neurofibromatosis type 1. AJNR 28:773–776

    PubMed  CAS  Google Scholar 

  13. Wei CW, Guo G, Mikulis DJ (2007) Tumor effects on cerebral white matter as characterized by diffusion tensor tractography. Can J Neurol Sci 34:62–68

    PubMed  Google Scholar 

  14. Jellison BJ, Field AS, Medow J et al (2004) Diffusion tensor imaging of cerebral white matter: a pictorial review of physics, fiber tract anatomy, and tumor imaging patterns. AJNR 25:356–369

    PubMed  Google Scholar 

  15. Tamura H, Takahashi S, Kurihara N et al (2007) Practical visualization of internal structure of white matter for image interpretation: staining a spin-echo T2-weighted image with three echo-planar diffusion-weighted images. AJNR 24:401–409

    Google Scholar 

  16. Provenzale JM, Liang L, DeLong D et al (2007) Diffusion tensor imaging assessment of brain white matter maturation during the first postnatal year. AJR 189:476–486

    Article  PubMed  Google Scholar 

  17. DeBella K, Szudek J, Friedman JM (2000) Use of the National Institutes of Health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 105:608–614

    Article  PubMed  CAS  Google Scholar 

  18. Szudek J, Friedman JM (2002) Unidentified bright objects associated with features of neurofibromatosis 1. Pediatr Neurol 27:123–127

    Article  PubMed  Google Scholar 

  19. Lopes Ferraz Filho JR, Munis MP, Soares Souza A et al (2007) Unidentified bright objects on brain MRI in children as a diagnostic criterion for neurofibromatosis type 1. Pediatr Radiol 38:305–310

    Article  Google Scholar 

  20. DiMario FJ, Ramsby G (1998) Magnetic resonance imaging lesion analysis in neurofibromatosis type 1. Arch Neurol 55:500–505

    Article  PubMed  Google Scholar 

  21. Van Engelen SJ, Krab LC, Moll HA et al (2008) Quantitative differentiation between healthy and disordered brain matter in patients with neurofibromatosis type I using diffusion tensor imaging. AJNR 29:816–822

    Article  PubMed  Google Scholar 

  22. Terada H, Barkovich AJ, Edwards MS et al (1996) Evolution of high-intensity basal ganglia lesions on T1-weighted MR in neurofibromatosis type 1. AJNR 17:755–760

    PubMed  CAS  Google Scholar 

  23. Mirowitz SA, Sartor K, Gado M (1989) High-intensity basal ganglia lesions on T1-weighted MR images in neurofibromatosis. AJNR 10:1159–1163

    PubMed  CAS  Google Scholar 

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Correspondence to José R. L. Ferraz-Filho.

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Ferraz-Filho, J.R.L., da Rocha, A.J., Muniz, M.P. et al. Diffusion tensor MR imaging in neurofibromatosis type 1: expanding the knowledge of microstructural brain abnormalities. Pediatr Radiol 42, 449–454 (2012). https://doi.org/10.1007/s00247-011-2274-1

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  • DOI: https://doi.org/10.1007/s00247-011-2274-1

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