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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 (FASI)
- Plexiform neurofibromas (PNF) of soft tissues
- Differ from diffuse & localized neurofibromas (NF)
- Astrocytomas, primarily optic pathway glioma (OPG)
- Vascular dysplasias (moyamoya arteriopathy)
- Skeletal dysplastic lesions
- Café au lait spots of skin
- Nonenhancing T2/FLAIR MR signal abnormalities at characteristic brain locations
- Neurocutaneous disorder (phakomatosis) characterized by
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
- Batchala PP et al: Imaging of tumor syndromes. Radiol Clin North Am. 59(3):471-500, 2021
- Spyris CD et al: High-grade gliomas in children with neurofibromatosis type 1: literature review and illustrative cases. AJNR Am J Neuroradiol. 40(2):366-9, 2019
- Viskochil D et al: Volumetric MRI in neurofibromatosis type 1 (NF1) comes of age to help determine initiation and monitoring of targeted therapies for plexiform neurofibromas. Acad Radiol. 25(2):141-3, 2018
- de Blank PMK et al: Optic pathway gliomas in neurofibromatosis type 1: an update: surveillance, treatment indications, and biomarkers of vision. J Neuroophthalmol. 37 Suppl 1:S23-32, 2017
- Dombi E et al: Activity of selumetinib in neurofibromatosis type 1-related plexiform neurofibromas. N Engl J Med. 375(26):2550-60, 2016
- 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):851-6.e1, 2015
- 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
- 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
- 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
- Ertan G et al: Diffusion tensor imaging of neurofibromatosis bright objects in children with neurofibromatosis type 1. Neuroradiol J. 27(5):616-26, 2014
- Hirbe AC et al: Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 13(8):834-43, 2014
- 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
- 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
- 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
- Canavese F et al: Resection of plexiform neurofibromas in children with neurofibromatosis type 1. J Pediatr Orthop. 31(3):303-11, 2011
- Rieley MB et al: Variable expression of neurofibromatosis 1 in monozygotic twins. Am J Med Genet A. 155A(3):478-85, 2011
- 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
- Pride N et al: Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1. J Child Neurol. 25(7):834-41, 2010
- 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
- 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
- Mentzel HJ et al: Pediatric brain MRI in neurofibromatosis type I. Eur Radiol. 15(4):814-22, 2005
- Rosser TL et al: Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology. 64(3):553-5, 2005
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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 (FASI)
- Plexiform neurofibromas (PNF) of soft tissues
- Differ from diffuse & localized neurofibromas (NF)
- Astrocytomas, primarily optic pathway glioma (OPG)
- Vascular dysplasias (moyamoya arteriopathy)
- Skeletal dysplastic lesions
- Café au lait spots of skin
- Nonenhancing T2/FLAIR MR signal abnormalities at characteristic brain locations
- Neurocutaneous disorder (phakomatosis) characterized by
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
- Batchala PP et al: Imaging of tumor syndromes. Radiol Clin North Am. 59(3):471-500, 2021
- Spyris CD et al: High-grade gliomas in children with neurofibromatosis type 1: literature review and illustrative cases. AJNR Am J Neuroradiol. 40(2):366-9, 2019
- Viskochil D et al: Volumetric MRI in neurofibromatosis type 1 (NF1) comes of age to help determine initiation and monitoring of targeted therapies for plexiform neurofibromas. Acad Radiol. 25(2):141-3, 2018
- de Blank PMK et al: Optic pathway gliomas in neurofibromatosis type 1: an update: surveillance, treatment indications, and biomarkers of vision. J Neuroophthalmol. 37 Suppl 1:S23-32, 2017
- Dombi E et al: Activity of selumetinib in neurofibromatosis type 1-related plexiform neurofibromas. N Engl J Med. 375(26):2550-60, 2016
- 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):851-6.e1, 2015
- 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
- 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
- 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
- Ertan G et al: Diffusion tensor imaging of neurofibromatosis bright objects in children with neurofibromatosis type 1. Neuroradiol J. 27(5):616-26, 2014
- Hirbe AC et al: Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol. 13(8):834-43, 2014
- 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
- 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
- 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
- Canavese F et al: Resection of plexiform neurofibromas in children with neurofibromatosis type 1. J Pediatr Orthop. 31(3):303-11, 2011
- Rieley MB et al: Variable expression of neurofibromatosis 1 in monozygotic twins. Am J Med Genet A. 155A(3):478-85, 2011
- 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
- Pride N et al: Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1. J Child Neurol. 25(7):834-41, 2010
- 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
- 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
- Mentzel HJ et al: Pediatric brain MRI in neurofibromatosis type I. Eur Radiol. 15(4):814-22, 2005
- Rosser TL et al: Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology. 64(3):553-5, 2005
