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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
- Campen CJ et al: Optic pathway gliomas in neurofibromatosis type 1. J Child Neurol. 33(1):73-81, 2018
- 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
- Chaudhry IA et al: Orbitofacial neurofibromatosis: clinical characteristics and treatment outcome. Eye (Lond). 26(4):583-92, 2012
- Coban-Karatas M et al: Management of facial disfigurement in orbitotemporal neurofibromatosis. Ophthal Plast Reconstr Surg. 26(2):124-6, 2010
- 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
- Chen JY et al: Orbital plexiform neurofibroma and high axial myopia. Ophthal Plast Reconstr Surg. 24(4):284-6, 2008
- Erb MH et al: Orbitotemporal neurofibromatosis: classification and treatment. Orbit. 26(4):223-8, 2007
- Ferner RE: Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 6(4):340-51, 2007
- Yohay KH: The genetic and molecular pathogenesis of NF1 and NF2. Semin Pediatr Neurol. 13(1):21-6, 2006
- Zeid JL et al: Orbital optic nerve gliomas in children with neurofibromatosis type 1. J AAPOS. 10(6):534-9, 2006
- Lee V et al: Orbitotemporal neurofibromatosis. Clinical features and surgical management. Ophthalmology. 111(2):382-8, 2004
- Jacquemin C et al: Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol. 24(8):1678-82, 2003
- Ferner RE et al: International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res. 62(5):1573-7, 2002
- Jacquemin C et al: Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol. 23(4):644-8, 2002
- Rasmussen SA et al: NF1 gene and neurofibromatosis 1. Am J Epidemiol. 151(1):33-40, 2000
- 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
- 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
- Smith M et al: Imaging and differential diagnosis of the large eye. Radiographics. 14(4):721-8, 1994
- Reed D et al: Plexiform neurofibromatosis of the orbit: CT evaluation. AJNR Am J Neuroradiol. 7(2):259-63, 1986
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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); 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
- Campen CJ et al: Optic pathway gliomas in neurofibromatosis type 1. J Child Neurol. 33(1):73-81, 2018
- 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
- Chaudhry IA et al: Orbitofacial neurofibromatosis: clinical characteristics and treatment outcome. Eye (Lond). 26(4):583-92, 2012
- Coban-Karatas M et al: Management of facial disfigurement in orbitotemporal neurofibromatosis. Ophthal Plast Reconstr Surg. 26(2):124-6, 2010
- 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
- Chen JY et al: Orbital plexiform neurofibroma and high axial myopia. Ophthal Plast Reconstr Surg. 24(4):284-6, 2008
- Erb MH et al: Orbitotemporal neurofibromatosis: classification and treatment. Orbit. 26(4):223-8, 2007
- Ferner RE: Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 6(4):340-51, 2007
- Yohay KH: The genetic and molecular pathogenesis of NF1 and NF2. Semin Pediatr Neurol. 13(1):21-6, 2006
- Zeid JL et al: Orbital optic nerve gliomas in children with neurofibromatosis type 1. J AAPOS. 10(6):534-9, 2006
- Lee V et al: Orbitotemporal neurofibromatosis. Clinical features and surgical management. Ophthalmology. 111(2):382-8, 2004
- Jacquemin C et al: Orbit deformities in craniofacial neurofibromatosis type 1. AJNR Am J Neuroradiol. 24(8):1678-82, 2003
- Ferner RE et al: International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res. 62(5):1573-7, 2002
- Jacquemin C et al: Reassessment of sphenoid dysplasia associated with neurofibromatosis type 1. AJNR Am J Neuroradiol. 23(4):644-8, 2002
- Rasmussen SA et al: NF1 gene and neurofibromatosis 1. Am J Epidemiol. 151(1):33-40, 2000
- 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
- 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
- Smith M et al: Imaging and differential diagnosis of the large eye. Radiographics. 14(4):721-8, 1994
- Reed D et al: Plexiform neurofibromatosis of the orbit: CT evaluation. AJNR Am J Neuroradiol. 7(2):259-63, 1986
