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Neurofibromatosis Type 1
Luke L. Linscott, MD
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KEY FACTS

  • Imaging

    • Pathology

      • Clinical Issues

        • Diagnostic Checklist

          TERMINOLOGY

          • Abbreviations

            • Neurofibromatosis type 1 (NF1)
          • Synonyms

            • von Recklinghausen disease
          • Definitions

            • Neurocutaneous disorder (phakomatosis) characterized by
              • Nonenhancing T2/FLAIR MR signal abnormalities at characteristic brain locations
                • "Unidentified bright objects (UBOs)" or "focal abnormal signal intensities"
              • Plexiform neurofibromas (PNF) of soft tissues
                • Differ from diffuse & localized neurofibromas (NF)
              • Astrocytomas, primarily optic pathway gliomas (OPG)
              • Vascular dysplasias (moyamoya arteriopathy)
              • Skeletal dysplastic lesions
              • Café au lait spots of skin

          IMAGING

          • General Features

            • 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

                                      • Image Interpretation Pearls

                                        Selected References

                                        1. Prada CE et al: The use of magnetic resonance imaging screening for optic pathway gliomas in children with neurofibromatosis Type 1. J Pediatr. 167(4):851-856.e1, 2015
                                        2. Ratner N et al: A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nat Rev Cancer. 15(5):290-301, 2015
                                        3. 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
                                        4. D'Arco F et al: Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review. Radiol Med. 119(6):415-21, 2014
                                        5. Ertan G et al: Diffusion tensor imaging of neurofibromatosis bright objects in children with neurofibromatosis type 1. Neuroradiol J. 27(5):616-26, 2014
                                        6. Hirbe AC et al: Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 13(8):834-43, 2014
                                        7. Hervey-Jumper SL et al: Diffuse pontine lesions in children with neurofibromatosis type 1: making a case for unidentified bright objects. Pediatr Neurosurg. 49(1):55-9, 2013
                                        8. Ferraz-Filho JR et al: Diffusion tensor MR imaging in neurofibromatosis type 1: expanding the knowledge of microstructural brain abnormalities. Pediatr Radiol. 42(4):449-54, 2012
                                        9. Piscitelli O et al: Neurofibromatosis type 1 and cerebellar T2-hyperintensities: the relationship to cognitive functioning. Dev Med Child Neurol. 54(1):49-51, 2012
                                        10. Barbier C et al: Proton MR spectroscopic imaging of basal ganglia and thalamus in neurofibromatosis type 1: correlation with T2 hyperintensities. Neuroradiology. 53(2):141-8, 2011
                                        11. Canavese F et al: Resection of plexiform neurofibromas in children with neurofibromatosis type 1. J Pediatr Orthop. 31(3):303-11, 2011
                                        12. Rieley MB et al: Variable expression of neurofibromatosis 1 in monozygotic twins. Am J Med Genet A. 155A(3):478-85, 2011
                                        13. Feldmann R et al: Development of MRI T2 hyperintensities and cognitive functioning in patients with neurofibromatosis type 1. Acta Paediatr. 99(11):1657-60, 2010
                                        14. Wasa J et al: MRI features in the differentiation of malignant peripheral nerve sheath tumors and neurofibromas. AJR Am J Roentgenol. 194(6):1568-74, 2010
                                        15. Wignall EL et al: Corpus callosum morphology and microstructure assessed using structural MR imaging and diffusion tensor imaging: initial findings in adults with neurofibromatosis type 1. AJNR Am J Neuroradiol. 31(5):856-61, 2010
                                        16. Mentzel HJ et al: Pediatric brain MRI in neurofibromatosis type I. Eur Radiol. 15(4):814-22, 2005
                                        17. Rosser TL et al: Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology. 64(3):553-5, 2005
                                        18. Feldmann R et al: Neurofibromatosis type 1: motor and cognitive function and T2-weighted MRI hyperintensities. Neurology. 61(12):1725-8, 2003
                                        19. Balcer LJ et al: Visual loss in children with neurofibromatosis type 1 and optic pathway gliomas: relation to tumor location by magnetic resonance imaging. Am J Ophthalmol. 131(4):442-5, 2001
                                        20. Menor F et al: Neurofibromatosis type 1 in children: MR imaging and follow-up studies of central nervous system findings. Eur J Radiol. 26(2):121-31, 1998
                                        Related Anatomy
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                                        Related Differential Diagnoses
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                                        References
                                        Tables

                                        Tables

                                        KEY FACTS

                                        • Imaging

                                          • Pathology

                                            • Clinical Issues

                                              • Diagnostic Checklist

                                                TERMINOLOGY

                                                • Abbreviations

                                                  • Neurofibromatosis type 1 (NF1)
                                                • Synonyms

                                                  • von Recklinghausen disease
                                                • Definitions

                                                  • Neurocutaneous disorder (phakomatosis) characterized by
                                                    • Nonenhancing T2/FLAIR MR signal abnormalities at characteristic brain locations
                                                      • "Unidentified bright objects (UBOs)" or "focal abnormal signal intensities"
                                                    • Plexiform neurofibromas (PNF) of soft tissues
                                                      • Differ from diffuse & localized neurofibromas (NF)
                                                    • Astrocytomas, primarily optic pathway gliomas (OPG)
                                                    • Vascular dysplasias (moyamoya arteriopathy)
                                                    • Skeletal dysplastic lesions
                                                    • Café au lait spots of skin

                                                IMAGING

                                                • General Features

                                                  • 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

                                                                            • Image Interpretation Pearls

                                                                              Selected References

                                                                              1. Prada CE et al: The use of magnetic resonance imaging screening for optic pathway gliomas in children with neurofibromatosis Type 1. J Pediatr. 167(4):851-856.e1, 2015
                                                                              2. Ratner N et al: A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nat Rev Cancer. 15(5):290-301, 2015
                                                                              3. 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
                                                                              4. D'Arco F et al: Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review. Radiol Med. 119(6):415-21, 2014
                                                                              5. Ertan G et al: Diffusion tensor imaging of neurofibromatosis bright objects in children with neurofibromatosis type 1. Neuroradiol J. 27(5):616-26, 2014
                                                                              6. Hirbe AC et al: Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 13(8):834-43, 2014
                                                                              7. Hervey-Jumper SL et al: Diffuse pontine lesions in children with neurofibromatosis type 1: making a case for unidentified bright objects. Pediatr Neurosurg. 49(1):55-9, 2013
                                                                              8. Ferraz-Filho JR et al: Diffusion tensor MR imaging in neurofibromatosis type 1: expanding the knowledge of microstructural brain abnormalities. Pediatr Radiol. 42(4):449-54, 2012
                                                                              9. Piscitelli O et al: Neurofibromatosis type 1 and cerebellar T2-hyperintensities: the relationship to cognitive functioning. Dev Med Child Neurol. 54(1):49-51, 2012
                                                                              10. Barbier C et al: Proton MR spectroscopic imaging of basal ganglia and thalamus in neurofibromatosis type 1: correlation with T2 hyperintensities. Neuroradiology. 53(2):141-8, 2011
                                                                              11. Canavese F et al: Resection of plexiform neurofibromas in children with neurofibromatosis type 1. J Pediatr Orthop. 31(3):303-11, 2011
                                                                              12. Rieley MB et al: Variable expression of neurofibromatosis 1 in monozygotic twins. Am J Med Genet A. 155A(3):478-85, 2011
                                                                              13. Feldmann R et al: Development of MRI T2 hyperintensities and cognitive functioning in patients with neurofibromatosis type 1. Acta Paediatr. 99(11):1657-60, 2010
                                                                              14. Wasa J et al: MRI features in the differentiation of malignant peripheral nerve sheath tumors and neurofibromas. AJR Am J Roentgenol. 194(6):1568-74, 2010
                                                                              15. Wignall EL et al: Corpus callosum morphology and microstructure assessed using structural MR imaging and diffusion tensor imaging: initial findings in adults with neurofibromatosis type 1. AJNR Am J Neuroradiol. 31(5):856-61, 2010
                                                                              16. Mentzel HJ et al: Pediatric brain MRI in neurofibromatosis type I. Eur Radiol. 15(4):814-22, 2005
                                                                              17. Rosser TL et al: Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology. 64(3):553-5, 2005
                                                                              18. Feldmann R et al: Neurofibromatosis type 1: motor and cognitive function and T2-weighted MRI hyperintensities. Neurology. 61(12):1725-8, 2003
                                                                              19. Balcer LJ et al: Visual loss in children with neurofibromatosis type 1 and optic pathway gliomas: relation to tumor location by magnetic resonance imaging. Am J Ophthalmol. 131(4):442-5, 2001
                                                                              20. Menor F et al: Neurofibromatosis type 1 in children: MR imaging and follow-up studies of central nervous system findings. Eur J Radiol. 26(2):121-31, 1998