La radiologia medica

, Volume 119, Issue 6, pp 415–421 | Cite as

Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review

  • Felice D’ArcoEmail author
  • Alessandra D’Amico
  • Ferdinando Caranci
  • Nilde Di Paolo
  • Daniela Melis
  • Arturo Brunetti



Neurofibromatosis type 1 (NF1) is a multisystem autosomal dominant disorder that primarily involves the skin and the nervous system. Development of cerebral arterial stenosis is a potentially deadly complication of NF1, which is frequently underestimated. The aim of our paper is to report the frequency of this cerebrovascular disease in a series of patients affected by NF1, using magnetic resonance angiography (MRA). A review of the literature was also performed, focused on the usefulness of MRA in NF1 patients.

Materials and methods

Among 125 patients with NF1 (clinical diagnosis according to the standard National Institutes of Health criteria), 81 (65 %) were studied with brain MRI (magnetic resonance imaging) and MRA using a 1.5 T magnet.


Multiple intracranial arterial stenoses were found in six patients (7.4 %). In our study, MRA proved to be critical, especially for the detection of stenoses in the branches of the Circle of Willis.


Few case series have investigated the incidence of vascular complications of NF1, and most of them have used MRI. We suggest adding MRA to the brain imaging of all these patients, as stenoses of the branches of the Circle of Willis are often undetectable by MRI only.


Neurofibromatosis type 1 Arterial stenosis Magnetic resonance angiography Magnetic resonance imaging 


Conflict of interest

Felice D’Arco, Alessandra D’Amico, Ferdinando Caranci, Nilde Di Paolo, Daniela Melis, Arturo Brunetti declare that they have no conflicts of interest on submission of the manuscript.


  1. 1.
    Williams VC, Lucas J, Babcock MA et al (2009) Neurofibromatosis type 1 revisited. Pediatrics 123:124–133PubMedCrossRefGoogle Scholar
  2. 2.
    Hersh JH (2008) American academy of pediatrics committee on genetics. Health supervision for children with neurofibromatosis. Pediatrics 121:633–642PubMedCrossRefGoogle Scholar
  3. 3.
    Gutmann DH, Aylsworth A, Carey CJ et al (1997) The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 278:51–57Google Scholar
  4. 4.
    Friedman JM, Arbiser J, Epstein JA et al (2002) Cardiovascular disease in neurofibromatosis 1: report of the NF1 cardiovascular task force. Genet Med 4:105–111PubMedCrossRefGoogle Scholar
  5. 5.
    Xu J, Ismat FA, Wang T et al (2007) NF1 regulates a Ras-dependent vascular smooth muscle proliferative injury response. Circulation 116:2148–2156PubMedCrossRefGoogle Scholar
  6. 6.
    Sobata E, Ohkuma H, Suzuki S (1988) Cerebrovascular disorders associated with von Recklinghausen’s neurofibromatosis: a case report. Neurosurgery 22:544–549PubMedCrossRefGoogle Scholar
  7. 7.
    Rosser TL, Vezina G, Packer RJ (2005) Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology 64:553–555PubMedCrossRefGoogle Scholar
  8. 8.
    Cairns AG, North KN (2008) Cerebrovascular dysplasia in neurofibromatosis type 1. J Neurol Neurosurg Psychiatry 79:1165–1170PubMedCrossRefGoogle Scholar
  9. 9.
    Rea D, Brandsema JF, Armstrong D et al (2009) Cerebral arteriopathy in children with neurofibromatosis type 1. Pediatrics 124:e476–e483PubMedCrossRefGoogle Scholar
  10. 10.
    Korf BR, Schneider G, Young Poussaint TY (1999) Structural anomalies revealed by neuro-imaging studies in the brains of patients with neurofibromatosis type 1 and large deletions. Genet Med 1:136–140PubMedCrossRefGoogle Scholar
  11. 11.
    Horn P, Pflister S, Bueltmann E et al (2004) Moyamoya-like vasculopathy (moya-moya syndrome) in children. Childs Nerv Syst 20:382–391PubMedCrossRefGoogle Scholar
  12. 12.
    Lo W, Zamel K, Ponnappa K et al (2008) The cost of pediatric stroke care and rehabilitation. Stroke 39:161–165PubMedCrossRefGoogle Scholar
  13. 13.
    Mishra KK, Puri DR, Misset BT et al (2006) The role of up-front radiation therapy for incompletely resected pediatric WHO grade II low grade gliomas. Neuro Oncol 8:166–174PubMedCentralPubMedCrossRefGoogle Scholar
  14. 14.
    Muller M, van der Graaf Y, Algra A et al (2011) Carotid atherosclerosis and progression of brain atrophy: the SMART-MR study. Ann Neurol 70:237–244PubMedCrossRefGoogle Scholar
  15. 15.
    Down L, Klein M, Fagel SS et al (2009) Cognitive and radiological effects of radiotherapy in patients with low-grade glioma: long-term, follow-up. Lancet Neurol 8:810–818CrossRefGoogle Scholar
  16. 16.
    Van Laar PJ, van der Grond J, Mali WP, Hendrikse J (2006) Magnetic resonance evaluation of the cerebral circulation in obstructive arterial disease. Cerebrovasc Dis 21:297–306PubMedCrossRefGoogle Scholar
  17. 17.
    Okazaki K, Akiyoshi K, Hajime T (2010) Widespread ischemic brain lesion caused by vasculopathy associated with neurofibromatosis type 1. Neuropathology 30:627–633PubMedCrossRefGoogle Scholar
  18. 18.
    Tang S-C, Lee M-J, Jeng J-S, Yip P-K (2006) Novel mutation of neurofibromatosis type 1 in patient with cerebral vasculopathy and fatal ischemic stroke. J Neurol Sci 243:53–55PubMedCrossRefGoogle Scholar
  19. 19.
    Gorelick MH, Powel CM, Rosenbaum KN et al (1992) Progressive occlusive cerebrovascular disease in a patient with neurofibromatosis type 1. Clin Pediatr 31:313–315CrossRefGoogle Scholar
  20. 20.
    Ulrich PT, Januschek E (2011) Revascularisation surgery and long-term follow-up in juvenile moya-moya syndrome: a retrospective analysis. Acta Neurochir Suppl 112:39–43PubMedCrossRefGoogle Scholar
  21. 21.
    Turhan T, Ersahin Y (2011) Indirect bypass procedure for moya-moya disease in pediatric patients. Turk Neurosurg 21:160–166PubMedGoogle Scholar
  22. 22.
    Omura M, Aida N, Sekido K et al (1997) Large intracranial vessel occlusive vasculopathy after radiation therapy in children: clinical features and usefulness of magnetic resonance imaging. Int J Radiat Oncol Biol Phys 38:241–249PubMedCrossRefGoogle Scholar
  23. 23.
    Mentzel HJ, Siedel J, Fitzek C et al (2005) Pediatric brain MRI in neurofibromatosis type 1. Eur Radiol 15:814–822PubMedCrossRefGoogle Scholar
  24. 24.
    Darrigo Jùnior LG, Valera ET, Machado Ade A et al (2011) Moya-moya syndrome associated with neurofibromatosis type I in a pediatric patient. San Paulo Med J 129:110–112CrossRefGoogle Scholar
  25. 25.
    Smith M, Heran MK, Connolly MB et al (2011) Cerebro-vasculopathy in NF1 associated with ocular and scalp defects. Am J Med Genet A 155:380–385CrossRefGoogle Scholar
  26. 26.
    Oh KS, Hung J, Robertson PL, Gartin HJ et al (2011) Outcomes of multidisciplinary management in pediatric low grade gliomas. Int J Radiat Oncol Biol Phys 81:e481–e488PubMedCrossRefGoogle Scholar
  27. 27.
    Kaas B, Huisman TA, Tekes A et al (2013) Spectrum and prevalence of vasculopathy in pediatric neurofibromatosis type 1. J Child Neurol 28:561–569PubMedCentralPubMedCrossRefGoogle Scholar
  28. 28.
    Ghosh PS, Rothner AD, Emch TM et al (2013) Cerebral vasculopathy in children with neurofibromatosis type 1. J Child Neurol 28:95–101PubMedCrossRefGoogle Scholar
  29. 29.
    Caranci F, Briganti F, Cirillo L et al (2013) Epidemiology and genetics of intracranial aneurysms. Eur J Radiol 82:1598–1605PubMedCrossRefGoogle Scholar

Copyright information

© Italian Society of Medical Radiology 2013

Authors and Affiliations

  • Felice D’Arco
    • 1
    Email author
  • Alessandra D’Amico
    • 1
  • Ferdinando Caranci
    • 1
  • Nilde Di Paolo
    • 1
  • Daniela Melis
    • 2
  • Arturo Brunetti
    • 1
  1. 1.Department of Diagnostic ImagingNeuroradiology University Federico II of NaplesNaplesItaly
  2. 2.Department of PediatricsUniversity Federico II of NaplesNaplesItaly

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