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Neurofibromatosis Type 1
Neurofibromatosis Type 1
Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Neurofibromatosis type 1 (NF1), nerve root neurofibroma (NF), plexiform neurofibroma (PNF), malignant peripheral nerve sheath tumor (MPNST)

              • Synonyms

                • von Recklinghausen disease, peripheral neurofibromatosis

              • Definitions

                • Autosomal dominant mesodermal dysplasia characterized by plexiform and NFs, spinal deformity, neoplastic and nonneoplastic brain lesions, and cutaneous stigmata

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Nuclear Medicine 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

                                              • Image Interpretation Pearls

                                                Selected References

                                                1. Crawford AH et al: Management of cervical instability as a complication of neurofibromatosis type 1 in children: a historical perspective with a 40-year experience. Spine Deform. 6(6):719-29, 2018
                                                2. D'Amico A et al: Medullary unidentified bright objects in Neurofibromatosis type 1: a case series. BMC Pediatr. 18(1):91, 2018
                                                3. Razek AAKA: MR imaging of neoplastic and non-neoplastic lesions of the brain and spine in neurofibromatosis type I. Neurol Sci. 39(5):821-7, 2018
                                                4. Rüegger AD et al: Spinal cord hyperintensities in neurofibromatosis type 1: are they the cord equivalent of unidentified bright objects in the brain? Pediatr Neurol. 86:63-5, 2018
                                                5. Waqar M et al: C2 neurofibromas in neurofibromatosis type 1: genetic and imaging characteristics. J Neurosurg Spine. 1-7, 2018
                                                6. Chou D et al: Malignant peripheral nerve sheath tumors of the spine: results of surgical management from a multicenter study. J Neurosurg Spine. 26(3):291-8, 2017
                                                7. Li Y et al: A computed tomography-based comparison of abnormal vertebrae pedicles between dystrophic and nondystrophic scoliosis in neurofibromatosis type 1. World Neurosurg. 106:898-904, 2017
                                                8. Nguyen R et al: Characterization of spinal findings in children and adults with neurofibromatosis type 1 enrolled in a natural history study using magnetic resonance imaging. J Neurooncol. 121(1):209-15, 2015
                                                9. Pourtsidis A et al: Malignant peripheral nerve sheath tumors in children with neurofibromatosis type 1. Case Rep Oncol Med. 2014:843749, 2014
                                                10. Jett K et al: Clinical and genetic aspects of neurofibromatosis 1. Genet Med. 12(1):1-11, 2010
                                                11. 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
                                                12. Scalzone M et al: Neurofibromatosis type 1 clinical features and management. Pediatr Med Chir. 31(6):246-51, 2009
                                                13. Van Meerbeeck SF et al: Whole body MR imaging in neurofibromatosis type 1. Eur J Radiol. 69(2):236-42, 2009
                                                14. Suenobu S et al: Clinical presentation of patients with neurofibromatosis type 1 in infancy and childhood: genetic traits and gender effects. J Child Neurol. 23(11):1282-7, 2008
                                                15. Cardona S et al: Evaluation of F18-deoxyglucose positron emission tomography (FDG-PET) to assess the nature of neurogenic tumours. Eur J Surg Oncol. 29(6):536-41, 2003
                                                16. Iannicelli E et al: Radiol Med (Torino). English, Italian. MID: Apr;103(4):332-43, 2002
                                                17. Packer RJ et al: Plexiform neurofibromas in NF1: toward biologic-based therapy. Neurology. 58(10):1461-70, 2002
                                                18. Lin J et al: Cross-sectional imaging of peripheral nerve sheath tumors: characteristic signs on CT, MR imaging, and sonography. AJR Am J Roentgenol. 176(1):75-82, 2001
                                                19. Simoens WA et al: with radiologist's experience? Eur Radiol. 11(2):250-7, 2001
                                                20. Solomon SB et al: Positron emission tomography in the detection and management of sarcomatous transformation in neurofibromatosis. Clin Nucl Med. 26(6):525-8, 2001
                                                21. Ferner RE et al: Evaluation of (18)fluorodeoxyglucose positron emission tomography ((18)FDG PET) in the detection of malignant peripheral nerve sheath tumours arising from within plexiform neurofibromas in neurofibromatosis 1. J Neurol Neurosurg Psychiatry. 68(3):353-7, 2000
                                                22. Von Deimling A et al: Neurofibromatosis type 1. In Kleihues P et al: Pathology and Genetics of Tumors of the Nervous System. Lyon: IARC Press. 216-18, 2000
                                                23. Mukonoweshuro W et al: Neurofibromatosis type 1: the role of neuroradiology. Neuropediatrics. 30(3):111-9, 1999
                                                24. Murphey MD et al: From the archives of the AFIP. Imaging of musculoskeletal neurogenic tumors: radiologic-pathologic correlation. Radiographics. 19(5):1253-80, 1999
                                                Related Anatomy
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                                                Related Differential Diagnoses
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                                                References
                                                Tables

                                                Tables

                                                KEY FACTS

                                                • Terminology

                                                  • Imaging

                                                    • Top Differential Diagnoses

                                                      • Pathology

                                                        • Clinical Issues

                                                          • Diagnostic Checklist

                                                            TERMINOLOGY

                                                            • Abbreviations

                                                              • Neurofibromatosis type 1 (NF1), nerve root neurofibroma (NF), plexiform neurofibroma (PNF), malignant peripheral nerve sheath tumor (MPNST)

                                                            • Synonyms

                                                              • von Recklinghausen disease, peripheral neurofibromatosis

                                                            • Definitions

                                                              • Autosomal dominant mesodermal dysplasia characterized by plexiform and NFs, spinal deformity, neoplastic and nonneoplastic brain lesions, and cutaneous stigmata

                                                            IMAGING

                                                            • General Features

                                                              • Radiographic Findings

                                                                • CT Findings

                                                                  • MR Findings

                                                                    • Nuclear Medicine 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

                                                                                            • Image Interpretation Pearls

                                                                                              Selected References

                                                                                              1. Crawford AH et al: Management of cervical instability as a complication of neurofibromatosis type 1 in children: a historical perspective with a 40-year experience. Spine Deform. 6(6):719-29, 2018
                                                                                              2. D'Amico A et al: Medullary unidentified bright objects in Neurofibromatosis type 1: a case series. BMC Pediatr. 18(1):91, 2018
                                                                                              3. Razek AAKA: MR imaging of neoplastic and non-neoplastic lesions of the brain and spine in neurofibromatosis type I. Neurol Sci. 39(5):821-7, 2018
                                                                                              4. Rüegger AD et al: Spinal cord hyperintensities in neurofibromatosis type 1: are they the cord equivalent of unidentified bright objects in the brain? Pediatr Neurol. 86:63-5, 2018
                                                                                              5. Waqar M et al: C2 neurofibromas in neurofibromatosis type 1: genetic and imaging characteristics. J Neurosurg Spine. 1-7, 2018
                                                                                              6. Chou D et al: Malignant peripheral nerve sheath tumors of the spine: results of surgical management from a multicenter study. J Neurosurg Spine. 26(3):291-8, 2017
                                                                                              7. Li Y et al: A computed tomography-based comparison of abnormal vertebrae pedicles between dystrophic and nondystrophic scoliosis in neurofibromatosis type 1. World Neurosurg. 106:898-904, 2017
                                                                                              8. Nguyen R et al: Characterization of spinal findings in children and adults with neurofibromatosis type 1 enrolled in a natural history study using magnetic resonance imaging. J Neurooncol. 121(1):209-15, 2015
                                                                                              9. Pourtsidis A et al: Malignant peripheral nerve sheath tumors in children with neurofibromatosis type 1. Case Rep Oncol Med. 2014:843749, 2014
                                                                                              10. Jett K et al: Clinical and genetic aspects of neurofibromatosis 1. Genet Med. 12(1):1-11, 2010
                                                                                              11. 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
                                                                                              12. Scalzone M et al: Neurofibromatosis type 1 clinical features and management. Pediatr Med Chir. 31(6):246-51, 2009
                                                                                              13. Van Meerbeeck SF et al: Whole body MR imaging in neurofibromatosis type 1. Eur J Radiol. 69(2):236-42, 2009
                                                                                              14. Suenobu S et al: Clinical presentation of patients with neurofibromatosis type 1 in infancy and childhood: genetic traits and gender effects. J Child Neurol. 23(11):1282-7, 2008
                                                                                              15. Cardona S et al: Evaluation of F18-deoxyglucose positron emission tomography (FDG-PET) to assess the nature of neurogenic tumours. Eur J Surg Oncol. 29(6):536-41, 2003
                                                                                              16. Iannicelli E et al: Radiol Med (Torino). English, Italian. MID: Apr;103(4):332-43, 2002
                                                                                              17. Packer RJ et al: Plexiform neurofibromas in NF1: toward biologic-based therapy. Neurology. 58(10):1461-70, 2002
                                                                                              18. Lin J et al: Cross-sectional imaging of peripheral nerve sheath tumors: characteristic signs on CT, MR imaging, and sonography. AJR Am J Roentgenol. 176(1):75-82, 2001
                                                                                              19. Simoens WA et al: with radiologist's experience? Eur Radiol. 11(2):250-7, 2001
                                                                                              20. Solomon SB et al: Positron emission tomography in the detection and management of sarcomatous transformation in neurofibromatosis. Clin Nucl Med. 26(6):525-8, 2001
                                                                                              21. Ferner RE et al: Evaluation of (18)fluorodeoxyglucose positron emission tomography ((18)FDG PET) in the detection of malignant peripheral nerve sheath tumours arising from within plexiform neurofibromas in neurofibromatosis 1. J Neurol Neurosurg Psychiatry. 68(3):353-7, 2000
                                                                                              22. Von Deimling A et al: Neurofibromatosis type 1. In Kleihues P et al: Pathology and Genetics of Tumors of the Nervous System. Lyon: IARC Press. 216-18, 2000
                                                                                              23. Mukonoweshuro W et al: Neurofibromatosis type 1: the role of neuroradiology. Neuropediatrics. 30(3):111-9, 1999
                                                                                              24. Murphey MD et al: From the archives of the AFIP. Imaging of musculoskeletal neurogenic tumors: radiologic-pathologic correlation. Radiographics. 19(5):1253-80, 1999