link
Bookmarks
Orbital Neurofibromatosis Type 1
Surjith Vattoth, MD, FRCR; H. Christian Davidson, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
0
9
17
3

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Neurofibromatosis type 1 (NF1); optic nerve (ON)
              • Synonyms

                • von Recklinghausen disease
              • Definitions

                • Neurocutaneous disorder (inherited tumor syndrome) with distinct orbitofacial and cranial manifestations

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Ultrasonographic 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. Campen CJ et al: Optic pathway gliomas in neurofibromatosis type 1. J Child Neurol. 33(1):73-81, 2018
                                                2. Pessis R et al: Surgical care burden in orbito-temporal neurofibromatosis: multiple procedures and surgical care duration analysis in 47 consecutive adult patients. J Craniomaxillofac Surg. 43(8):1684-93, 2015
                                                3. Chaudhry IA et al: Orbitofacial neurofibromatosis: clinical characteristics and treatment outcome. Eye (Lond). 26(4):583-92, 2012
                                                4. Coban-Karatas M et al: Management of facial disfigurement in orbitotemporal neurofibromatosis. Ophthal Plast Reconstr Surg. 26(2):124-6, 2010
                                                5. Acartürk TO et al: Excision and "transcutaneous" lift in patients with neurofibromatosis of the fronto-temporo-orbital and auricular regions. J Craniofac Surg. 20(3):771-4, 2009
                                                6. Chen JY et al: Orbital plexiform neurofibroma and high axial myopia. Ophthal Plast Reconstr Surg. 24(4):284-6, 2008
                                                7. Erb MH et al: Orbitotemporal neurofibromatosis: classification and treatment. Orbit. 26(4):223-8, 2007
                                                8. Ferner RE: Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 6(4):340-51, 2007
                                                9. Yohay KH: The genetic and molecular pathogenesis of NF1 and NF2. Semin Pediatr Neurol. 13(1):21-6, 2006
                                                10. Zeid JL et al: Orbital optic nerve gliomas in children with neurofibromatosis type 1. J AAPOS. 10(6):534-9, 2006
                                                11. Lee V et al: Orbitotemporal neurofibromatosis. Clinical features and surgical management. Ophthalmology. 111(2):382-8, 2004
                                                12. Jacquemin C et al: Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol. 24(8):1678-82, 2003
                                                13. Ferner RE et al: International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res. 62(5):1573-7, 2002
                                                14. Jacquemin C et al: Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol. 23(4):644-8, 2002
                                                15. Rasmussen SA et al: NF1 gene and neurofibromatosis 1. Am J Epidemiol. 151(1):33-40, 2000
                                                16. Macfarlane R et al: Absence of the greater sphenoid wing in neurofibromatosis type I: congenital or acquired: case report. Neurosurgery. 37(1):129-33, 1995
                                                17. Lövblad KO et al: Dural ectasia of the optic nerve sheath in neurofibromatosis type 1: CT and MR features. J Comput Assist Tomogr. 18(5):728-30, 1994
                                                18. Smith M et al: Imaging and differential diagnosis of the large eye. Radiographics. 14(4):721-8, 1994
                                                19. Reed D et al: Plexiform neurofibromatosis of the orbit: CT evaluation. AJNR Am J Neuroradiol. 7(2):259-63, 1986
                                                Related Anatomy
                                                Loading...
                                                Related Differential Diagnoses
                                                Loading...
                                                References
                                                Tables

                                                Tables

                                                KEY FACTS

                                                • Terminology

                                                  • Imaging

                                                    • Top Differential Diagnoses

                                                      • Pathology

                                                        • Clinical Issues

                                                          • Diagnostic Checklist

                                                            TERMINOLOGY

                                                            • Abbreviations

                                                              • Neurofibromatosis type 1 (NF1); optic nerve (ON)
                                                            • Synonyms

                                                              • von Recklinghausen disease
                                                            • Definitions

                                                              • Neurocutaneous disorder (inherited tumor syndrome) with distinct orbitofacial and cranial manifestations

                                                            IMAGING

                                                            • General Features

                                                              • Radiographic Findings

                                                                • CT Findings

                                                                  • MR Findings

                                                                    • Ultrasonographic 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. Campen CJ et al: Optic pathway gliomas in neurofibromatosis type 1. J Child Neurol. 33(1):73-81, 2018
                                                                                              2. Pessis R et al: Surgical care burden in orbito-temporal neurofibromatosis: multiple procedures and surgical care duration analysis in 47 consecutive adult patients. J Craniomaxillofac Surg. 43(8):1684-93, 2015
                                                                                              3. Chaudhry IA et al: Orbitofacial neurofibromatosis: clinical characteristics and treatment outcome. Eye (Lond). 26(4):583-92, 2012
                                                                                              4. Coban-Karatas M et al: Management of facial disfigurement in orbitotemporal neurofibromatosis. Ophthal Plast Reconstr Surg. 26(2):124-6, 2010
                                                                                              5. Acartürk TO et al: Excision and "transcutaneous" lift in patients with neurofibromatosis of the fronto-temporo-orbital and auricular regions. J Craniofac Surg. 20(3):771-4, 2009
                                                                                              6. Chen JY et al: Orbital plexiform neurofibroma and high axial myopia. Ophthal Plast Reconstr Surg. 24(4):284-6, 2008
                                                                                              7. Erb MH et al: Orbitotemporal neurofibromatosis: classification and treatment. Orbit. 26(4):223-8, 2007
                                                                                              8. Ferner RE: Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 6(4):340-51, 2007
                                                                                              9. Yohay KH: The genetic and molecular pathogenesis of NF1 and NF2. Semin Pediatr Neurol. 13(1):21-6, 2006
                                                                                              10. Zeid JL et al: Orbital optic nerve gliomas in children with neurofibromatosis type 1. J AAPOS. 10(6):534-9, 2006
                                                                                              11. Lee V et al: Orbitotemporal neurofibromatosis. Clinical features and surgical management. Ophthalmology. 111(2):382-8, 2004
                                                                                              12. Jacquemin C et al: Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol. 24(8):1678-82, 2003
                                                                                              13. Ferner RE et al: International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res. 62(5):1573-7, 2002
                                                                                              14. Jacquemin C et al: Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol. 23(4):644-8, 2002
                                                                                              15. Rasmussen SA et al: NF1 gene and neurofibromatosis 1. Am J Epidemiol. 151(1):33-40, 2000
                                                                                              16. Macfarlane R et al: Absence of the greater sphenoid wing in neurofibromatosis type I: congenital or acquired: case report. Neurosurgery. 37(1):129-33, 1995
                                                                                              17. Lövblad KO et al: Dural ectasia of the optic nerve sheath in neurofibromatosis type 1: CT and MR features. J Comput Assist Tomogr. 18(5):728-30, 1994
                                                                                              18. Smith M et al: Imaging and differential diagnosis of the large eye. Radiographics. 14(4):721-8, 1994
                                                                                              19. Reed D et al: Plexiform neurofibromatosis of the orbit: CT evaluation. AJNR Am J Neuroradiol. 7(2):259-63, 1986