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Neurofibromatosis Type 1
Gilbert Vézina, MD; Anne G. Osborn, MD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Pathology

        • Clinical Issues

          TERMINOLOGY

          • Abbreviations

            • Neurofibromatosis type 1 (NF1)
          • Synonyms

            • von Recklinghausen disease, peripheral neurofibromatosis
          • Definitions

            • Neurocutaneous disorder (phakomatosis) characterized by
              • Waxing/waning white matter (WM) lesions
                • Sometimes called focal areas of signal intensity (FASI), nonspecific bright foci, unidentified bright objects (UBOs)
              • Optic nerve glioma (ONG)
              • Optic pathway glioma (OPG): Chiasm/tract ± nerve
              • Other gliomas: Brainstem, cerebral hemisphere, basal ganglia
              • Neurofibromas/plexiform neurofibromas (PNF)
              • Vascular dysplasias
              • Hyperpigmented macules (café au lait spots)
              • Dysplastic skeletal lesions

          IMAGING

          • General Features

            • Radiographic Findings

              • CT Findings

                • MR Findings

                  • Angiographic Findings

                    • Imaging Recommendations

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            • Gross Pathologic & Surgical Features

                              • Microscopic Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          Selected References

                                          1. Arnautovic A et al: Delayed diagnosis of childhood low-grade glioma: causes, consequences, and potential solutions. Childs Nerv Syst. ePub, 2015
                                          2. Brossier NM et al: Improving outcomes for neurofibromatosis 1-associated brain tumors. Expert Rev Anticancer Ther. 15(4):415-23, 2015
                                          3. Rodrigues AC Jr et al: Is magnetic resonance spectroscopy capable of detecting metabolic abnormalities in neurofibromatosis type 1 that are not revealed in brain parenchyma of normal appearance? Pediatr Neurol. 52(3):314-9, 2015
                                          4. Billiet T et al: Characterizing the microstructural basis of "unidentified bright objects" in neurofibromatosis type 1: A combined in vivo multicomponent T2 relaxation and multi-shell diffusion MRI analysis. Neuroimage Clin. 4:649-58, 2014
                                          5. Diggs-Andrews KA et al: Modeling cognitive dysfunction in neurofibromatosis-1. Trends Neurosci. 36(4):237-47, 2013
                                          6. Gutmann DH et al: Neurofibromatosis type 1: modeling CNS dysfunction. J Neurosci. 32(41):14087-93, 2012
                                          7. Pasmant E et al: Neurofibromatosis type 1: from genotype to phenotype. J Med Genet. 49(8):483-9, 2012
                                          8. Staser K et al: Pathogenesis of plexiform neurofibroma: tumor-stromal/hematopoietic interactions in tumor progression. Annu Rev Pathol. 7:469-95, 2012
                                          9. Stoker GE et al: Posterior vertebral column resection for the treatment of dystrophic kyphosis associated with type-1 neurofibromatosis: a case report and review of the literature. Spine (Phila Pa 1976). 37(26):E1659-64, 2012
                                          10. Jouhilahti EM et al: The pathoetiology of neurofibromatosis 1. Am J Pathol. 178(5):1932-9, 2011
                                          11. Cairns AG et al: Cerebrovascular dysplasia in neurofibromatosis type 1. J Neurol Neurosurg Psychiatry. 79(10):1165-70, 2008
                                          12. van Engelen SJ et al: Quantitative differentiation between healthy and disordered brain matter in patients with neurofibromatosis type I using diffusion tensor imaging. AJNR Am J Neuroradiol. 29(4):816-22, 2008
                                          13. Hegedus B et al: Neurofibromatosis-1 regulates neuronal and glial cell differentiation from neuroglial progenitors in vivo by both cAMP- and Ras-dependent mechanisms. Cell Stem Cell. 1(4):443-57, 2007
                                          14. Hyman SL et al: The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology. 65(7):1037-44, 2005
                                          15. Liu GT et al: Optic radiation involvement in optic pathway gliomas in neurofibromatosis. Am J Ophthalmol. 137(3):407-14, 2004
                                          Related Anatomy
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                                          Related Differential Diagnoses
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                                          References
                                          Tables

                                          Tables

                                          KEY FACTS

                                          • Terminology

                                            • Imaging

                                              • Pathology

                                                • Clinical Issues

                                                  TERMINOLOGY

                                                  • Abbreviations

                                                    • Neurofibromatosis type 1 (NF1)
                                                  • Synonyms

                                                    • von Recklinghausen disease, peripheral neurofibromatosis
                                                  • Definitions

                                                    • Neurocutaneous disorder (phakomatosis) characterized by
                                                      • Waxing/waning white matter (WM) lesions
                                                        • Sometimes called focal areas of signal intensity (FASI), nonspecific bright foci, unidentified bright objects (UBOs)
                                                      • Optic nerve glioma (ONG)
                                                      • Optic pathway glioma (OPG): Chiasm/tract ± nerve
                                                      • Other gliomas: Brainstem, cerebral hemisphere, basal ganglia
                                                      • Neurofibromas/plexiform neurofibromas (PNF)
                                                      • Vascular dysplasias
                                                      • Hyperpigmented macules (café au lait spots)
                                                      • Dysplastic skeletal lesions

                                                  IMAGING

                                                  • General Features

                                                    • Radiographic Findings

                                                      • CT Findings

                                                        • MR Findings

                                                          • Angiographic Findings

                                                            • Imaging Recommendations

                                                              DIFFERENTIAL DIAGNOSIS

                                                                PATHOLOGY

                                                                • General Features

                                                                  • Staging, Grading, & Classification

                                                                    • Gross Pathologic & Surgical Features

                                                                      • Microscopic Features

                                                                        CLINICAL ISSUES

                                                                        • Presentation

                                                                          • Demographics

                                                                            • Natural History & Prognosis

                                                                              • Treatment

                                                                                DIAGNOSTIC CHECKLIST

                                                                                • Consider

                                                                                  Selected References

                                                                                  1. Arnautovic A et al: Delayed diagnosis of childhood low-grade glioma: causes, consequences, and potential solutions. Childs Nerv Syst. ePub, 2015
                                                                                  2. Brossier NM et al: Improving outcomes for neurofibromatosis 1-associated brain tumors. Expert Rev Anticancer Ther. 15(4):415-23, 2015
                                                                                  3. Rodrigues AC Jr et al: Is magnetic resonance spectroscopy capable of detecting metabolic abnormalities in neurofibromatosis type 1 that are not revealed in brain parenchyma of normal appearance? Pediatr Neurol. 52(3):314-9, 2015
                                                                                  4. Billiet T et al: Characterizing the microstructural basis of "unidentified bright objects" in neurofibromatosis type 1: A combined in vivo multicomponent T2 relaxation and multi-shell diffusion MRI analysis. Neuroimage Clin. 4:649-58, 2014
                                                                                  5. Diggs-Andrews KA et al: Modeling cognitive dysfunction in neurofibromatosis-1. Trends Neurosci. 36(4):237-47, 2013
                                                                                  6. Gutmann DH et al: Neurofibromatosis type 1: modeling CNS dysfunction. J Neurosci. 32(41):14087-93, 2012
                                                                                  7. Pasmant E et al: Neurofibromatosis type 1: from genotype to phenotype. J Med Genet. 49(8):483-9, 2012
                                                                                  8. Staser K et al: Pathogenesis of plexiform neurofibroma: tumor-stromal/hematopoietic interactions in tumor progression. Annu Rev Pathol. 7:469-95, 2012
                                                                                  9. Stoker GE et al: Posterior vertebral column resection for the treatment of dystrophic kyphosis associated with type-1 neurofibromatosis: a case report and review of the literature. Spine (Phila Pa 1976). 37(26):E1659-64, 2012
                                                                                  10. Jouhilahti EM et al: The pathoetiology of neurofibromatosis 1. Am J Pathol. 178(5):1932-9, 2011
                                                                                  11. Cairns AG et al: Cerebrovascular dysplasia in neurofibromatosis type 1. J Neurol Neurosurg Psychiatry. 79(10):1165-70, 2008
                                                                                  12. van Engelen SJ et al: Quantitative differentiation between healthy and disordered brain matter in patients with neurofibromatosis type I using diffusion tensor imaging. AJNR Am J Neuroradiol. 29(4):816-22, 2008
                                                                                  13. Hegedus B et al: Neurofibromatosis-1 regulates neuronal and glial cell differentiation from neuroglial progenitors in vivo by both cAMP- and Ras-dependent mechanisms. Cell Stem Cell. 1(4):443-57, 2007
                                                                                  14. Hyman SL et al: The nature and frequency of cognitive deficits in children with neurofibromatosis type 1. Neurology. 65(7):1037-44, 2005
                                                                                  15. Liu GT et al: Optic radiation involvement in optic pathway gliomas in neurofibromatosis. Am J Ophthalmol. 137(3):407-14, 2004