Skip to main content

Advertisement

SpringerLink
Log in

MR imaging of neoplastic and non-neoplastic lesions of the brain and spine in neurofibromatosis type I

  • Review Article
  • Published:
Neurological Sciences Aims and scope Submit manuscript

Abstract

The aim of this work is to review the MR imaging of neoplastic and non-neoplastic lesions of the brain and spine in neurofibromatosis type I. Neoplastic lesions are optic pathway gliomas, brain stem gliomas, other gliomas of the brain, and peripheral nerve sheath tumors. Structural changes in the brain include unidentified bright objects, macrocephaly, and enlarged corpus callosum. Bony dysplasia changes as sphenoid ridge dysplasia, spinal scalloping, dural ectasia, and meningoceles. Vasculopathy and cortical cerebral and cerebellar malformations of the brain have been reported.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6

Similar content being viewed by others

Abbreviations

CNS:

Central nervous system

NF-1:

Neurofibromatosis type I

UBOs:

Unknown bright objects

References

  1. Blakeley JO, Bakker A, Barker A, Clapp W, Ferner R, Fisher MJ, Giovannini M, Gutmann DH, Karajannis MA, Kissil JL, Legius E, Lloyd AC, Packer RJ, Ramesh V, Riccardi VM, Stevenson DA, Ullrich NJ, Upadhyaya M, Stemmer-Rachamimov A (2017) The path forward: 2015 International Children’s Tumor Foundation conference on neurofibromatosis type 1, type 2, and schwannomatosis. Am J Med Genet A 173:1714–1721

    Article  PubMed  Google Scholar 

  2. Kresak JL, Walsh M (2016) Neurofibromatosis: a review of NF1, NF2, and Schwannomatosis. J Pediatr Genet 5:98–104

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  3. Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (2017) Neurofibromatosis type 1. Nat Rev Dis Primers 3:17004

    Article  PubMed  Google Scholar 

  4. Kehrer-Sawatzki H, Mautner VF, Cooper DN (2017) Emerging genotype-phenotype relationships in patients with large NF1 deletions. Hum Genet 136:349–376

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Yohay KH (2006) The genetic and molecular pathogenesis of NF1 and NF2. Semin Pediatr Neurol 13:21–26

    Article  PubMed  Google Scholar 

  6. Anderson JL, Gutmann DH (2015) Neurofibromatosis type 1. Handb Clin Neurol 132:75–86

    Article  PubMed  Google Scholar 

  7. Hirbe AC, Gutmann DH (2014) Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol 13:834–843

    Article  PubMed  Google Scholar 

  8. Eoli M, Bianchessi D, Di Stefano AL, Prodi E, Anghileri E, Finocchiaro G (2012) Central nervous system lymphoma occurring in a patient with neurofibromatosis type 1 (von Recklinghausen disease). Neurol Sci 33:1429–1433

    Article  PubMed  Google Scholar 

  9. Bianco G, Greco G, Antonelli M, Casali S, Castagnini C (2012) An histologically atypical NF-type 1 patient with a new pathogenic mutation. Neurol Sci 33:1483–1485

    Article  PubMed  Google Scholar 

  10. Souftas V, Tsivgoulis G, Kirmanidis M, Vadikolias K, Piperidou C, Prassopoulos P (2011) Spontaneous subclavian artery rupture in neurofibromatosis type I. Neurol Sci 32:979–980

    Article  PubMed  Google Scholar 

  11. Nandigam K, Mechtler LL, Smirniotopoulos JG (2014) Neuroimaging of neurocutaneous diseases. Neurol Clin 32:159–192

    Article  PubMed  Google Scholar 

  12. Vézina G (2015) Neuroimaging of phakomatoses: overview and advances. Pediatr Radiol 45:S433–S442

    Article  PubMed  Google Scholar 

  13. Campian J, Gutmann DH (2017) CNS tumors in neurofibromatosis. J Clin Oncol 20(35):2378–2385

    Article  Google Scholar 

  14. Lin D, Barker P (2006) Neuroimaging of phakomatoses. Semin Pediatr Neurol 13:48–62

    Article  PubMed  Google Scholar 

  15. Varan A, Şen H, Aydın B, Yalçın B, Kutluk T, Akyüz C (2016) Neurofibromatosis type 1 and malignancy in childhood. Clin Genet 89:341–345

    Article  CAS  PubMed  Google Scholar 

  16. Razek AAKA, El-Serougy L, Abdelsalam M, Gaballa G, Talaat M (2018) Differentiation of residual/recurrent gliomas from postradiation necrosis with arterial spin labeling and diffusion tensor magnetic resonance imaging-derived metrics. Neuroradiology 60:169–177

    Article  PubMed  Google Scholar 

  17. El-Serougy L, Abdel Razek AA, Ezzat A, Eldawoody H, El-Morsy A (2016) Assessment of diffusion tensor imaging metrics in differentiating low-grade from high-grade gliomas. Neuroradiol J 29:400–407

    Article  PubMed  PubMed Central  Google Scholar 

  18. Razek AA, Nada N (2016) Correlation of choline/creatine and apparent diffusion coefficient values with the prognostic parameters of head and neck squamous cell carcinoma. NMR Biomed 29:483–489

    Article  PubMed  Google Scholar 

  19. Rasool N, Odel JG, Kazim M (2017) Optic pathway glioma of childhood. Curr Opin Ophthalmol 28:289–295

    Article  PubMed  Google Scholar 

  20. Shofty B, Ben-Sira L, Kesler A, Constantini S (2015) Optic pathway gliomas. Adv Tech Stand Neurosurg 42:123–146

    Article  PubMed  Google Scholar 

  21. Laigle-Donadey F, Doz F, Delattre JY (2008) Brainstem gliomas in children and adults. Curr Opin Oncol 20:662–667

    Article  PubMed  Google Scholar 

  22. Sellmer L, Farschtschi S, Marangoni M, Heran MK, Birch P, Wenzel R et al (2017) Non-optic glioma in adults and children with neurofibromatosis 1. Orphanet J Rare Dis 12:34

    Article  PubMed  PubMed Central  Google Scholar 

  23. Byrne S, Connor S, Lascelles K, Siddiqui A, Hargrave D, Ferner RE (2017) Clinical presentation and prognostic indicators in 100 adults and children with neurofibromatosis 1 associated non-optic pathway brain gliomas. J Neuro-Oncol 133:609–614

    Article  Google Scholar 

  24. Kamal A, Abd El-Fattah AM, Tawfik A, Abdel Razek AA (2007) Cervical sympathetic schwannoma with postoperative first bite syndrome. Eur Arch Otorhinolaryngol 264:1109–1111

    Article  PubMed  Google Scholar 

  25. Avery RA, Katowitz JA, Fisher MJ, Heidary G, Dombi E, Packer RJ, Widemann BC, Hutcheson KA, Madigan WP, Listernick R, Liu GT, Berland JE, FitzGibbon EJ, Korf BR (2017) Orbital/periorbital plexiform neurofibromas in children with neurofibromatosis type 1: multidisciplinary recommendations for care. Ophthalmology 124:123–132

    Article  PubMed  Google Scholar 

  26. Razek AAKA, Ashmalla GA (2017) Assessment of paraspinal neurogenic tumors with diffusion-weighted MR imaging. Eur Spine J. https://doi.org/10.1007/s00586-017-5265-6

  27. Razek A, Nada N, Ghaniem M, Elkhamary S (2012) Assessment of soft tissue tumours of the extremities with diffusion echoplanar MR imaging. Radiol Med 117:96–101

    Article  CAS  PubMed  Google Scholar 

  28. Surov A, Nagata S, Razek AA, Tirumani SH, Wienke A, Kahn T (2015) Comparison of ADC values in different malignancies of the skeletal musculature: a multicentric analysis. Skelet Radiol 44:995–1000

    Article  Google Scholar 

  29. Razek AA, Huang BY (2011) Soft tissue tumors of the head and neck: imaging-based review of the WHO classification. Radiographics 31:1923–1954

    Article  PubMed  Google Scholar 

  30. Crucis A, Richer W, Brugières L, Bergeron C, Marie-Cardine A, Stephan JL, Girard P, Corradini N, Munzer M, Lacour B, Minard-Colin V, Sarnacki S, Ranchere-Vince D, Orbach D, Bourdeaut F (2015) Rhabdomyosarcomas in children with neurofibromatosis type I: a national historical cohort. Pediatr Blood Cancer 62:1733–1738

    Article  CAS  PubMed  Google Scholar 

  31. Abdel Razek AA (2014) Computed tomography and magnetic resonance imaging of lesions at masticator space. Jpn J Radiol 32:123–137

    Article  PubMed  Google Scholar 

  32. Rietman AB, Oostenbrink R, Bongers S, Gaukema E, van Abeelen S, Hendriksen JG, Looman CWN, de Nijs PFA, de Wit MC (2017) Motor problems in children with neurofibromatosis type 1. J Neurodev Disord 9:19

    Article  PubMed  PubMed Central  Google Scholar 

  33. Roy A, Barbarot S, Charbonnier V, Gayet-Delacroix M, Stalder JF, Roulin JL, le Gall D (2015) Examining the frontal subcortical brain vulnerability hypothesis in children with neurofibromatosis type 1: are T2-weighted hyperintensities related to executive dysfunction? Neuropsychology 29:473–484

    Article  PubMed  Google Scholar 

  34. Rodrigues AC Jr, Ferraz-Filho JR, Torres US, da Rocha AJ, Muniz MP, Souza AS et al (2015) Is magnetic resonance spectroscopy capable of detecting metabolic abnormalities in neurofibromatosis type 1 that are not revealed in brain parenchyma of normal appearance? Pediatr Neurol 52:314–319

    Article  PubMed  Google Scholar 

  35. Ertan G, Zan E, Yousem DM, Ceritoglu C, Tekes A, Poretti A, Huisman TA (2014) Diffusion tensor imaging of neurofibromatosis bright objects in children with neurofibromatosis type 1. Neuroradiol J 27:616–626

    Article  PubMed  PubMed Central  Google Scholar 

  36. Aydin S, Kurtcan S, Alkan A, Guler S, Filiz M, Yilmaz TF, Sahin TU, Aralasmak A (2016) Relationship between the corpus callosum and neurocognitive disabilities in children with NF-1: diffusion tensor imaging features. Clin Imaging 40:1092–1095

    Article  PubMed  Google Scholar 

  37. Wignall E, Griffiths P, Papadakis N, Wilkinson I, Wallis L, Bandmann O et al (2010) 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 31:856–861

    Article  CAS  PubMed  Google Scholar 

  38. Rommel FR, Spors H, Grzybowski M, Hahn A, Neubauer BA (2016) Sphenoid wing dysplasia with pulsatile exophthalmos in neurofibromatosis type 1. Neuropediatrics 47:278–279

    Article  PubMed  Google Scholar 

  39. Solanki C, Ramachandran S, Devi BI, Sharma R (2015) Calvarial defects in the region of the lambdoid suture in neurofibromatosis type-1 patients. J Pediatr Neurosci 10:22–24

    PubMed  PubMed Central  Google Scholar 

  40. Crawford AH, Herrera-Soto J (2007) Scoliosis associated with neurofibromatosis. Orthop Clin North Am 38:553–562

    Article  PubMed  Google Scholar 

  41. Razek AA, Huang BY (2012) Lesions of the petrous apex: classification and findings at CT and MR imaging. Radiographics 32:151–173

    Article  PubMed  Google Scholar 

  42. Walcott B, Kahle K, Wain J, Borges L (2011) Giant thoracic meningocele associated with neurofibromatosis 1. Neurology 76:1943

    Article  PubMed  PubMed Central  Google Scholar 

  43. Razek AA (2014) Vascular neurocutaneous disorders: neurospinal and craniofacial imaging findings. Jpn J Radiol 32:519–528

    Article  PubMed  Google Scholar 

  44. D'Arco F, D'Amico A, Caranci F, Di Paolo N, Melis D, Brunetti A (2014) Cerebrovascular stenosis in neurofibromatosis type 1 and utility of magnetic resonance angiography: our experience and literature review. Radiol Med 119:415–421

    PubMed  Google Scholar 

  45. Razek AA, Gaballa G, Megahed AS, Elmogy E (2013) Time resolved imaging of contrast kinetics (TRICKS) MR angiography of arteriovenous malformations of head and neck. Eur J Radiol 82:1885–1891

    Article  PubMed  Google Scholar 

  46. Ghosh PS, Rothner AD, Emch TM, Friedman NR, Moodley M (2013) Cerebral vasculopathy in children with neurofibromatosis type 1. J Child Neurol 28:95–101

    Article  PubMed  Google Scholar 

  47. Abdel Razek AAK, Ashmalla G, Samir S (2017) Clinical value of classification of venous malfromations with contrast enhanced MR angiography. Phlebography 32:628–633

    Google Scholar 

  48. Abdel Razek AA, Castillo M (2016) Magnetic resonance imaging of malformations of midbrain-hindbrain. J Comput Assist Tomogr 40:14–25

    Article  PubMed  Google Scholar 

  49. Toelle SP, Poretti A, Weber P, Seute T, Bromberg JE, Scheer I, Boltshauser E (2015) Cerebellar hypoplasia and dysmorphia in neurofibromatosis type 1. Cerebellum 14:642–649

    Article  CAS  PubMed  Google Scholar 

  50. Abdel Razek AA, Kandell AY, Elsorogy LG, Elmongy A, Basett AA (2009) Disorders of cortical formation: MR imaging features. AJNR Am J Neuroradiol 30:4–11

    Article  CAS  PubMed  Google Scholar 

  51. Balestri P, Vivarelli R, Grosso S, Santori L, Farnetani MA, Galluzzi P, Vatti GP, Calabrese F, Morgese G (2003) Malformations of cortical development in neurofibromatosis type 1. Neurology 61:1799–1801

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Diagnostic Radiology, Mansoura Faculty of Medicine, Mansoura, 13351, Egypt

    Ahmed Abdel Khalek Abdel Razek

Authors
  1. Ahmed Abdel Khalek Abdel Razek
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

Abdel Razek: reference collection, writing manuscript, and data collection

Corresponding author

Correspondence to Ahmed Abdel Khalek Abdel Razek.

Ethics declarations

Ethical standards and patient consent

We declare that this manuscript does not contain clinical studies or patient data.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Razek, A.A.K.A. MR imaging of neoplastic and non-neoplastic lesions of the brain and spine in neurofibromatosis type I. Neurol Sci 39, 821–827 (2018). https://doi.org/10.1007/s10072-018-3284-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-018-3284-7

Keywords

Search

Navigation