Abstract

Objective: Neurofibromatosis type 1 is a most common neurocutaneous syndrome characterized by multi-system involvement and an increased incidence of both benign and malignant tumors. Its diagnosis and follow-up is important because of increased cancer susceptibility in children. The aim of this study is to review the cranial MRI findings, neoplastic and non-neoplastic lesions of the brain in neurofibromatosis type I in pediatric patients.

Material and Methods: 183 patients which diagnosed with neurofibromatosis type 1 and had at least 1 MRI between July 2010 and March 2019 were evaluated. Twelve patients were siblings. Contrasted cranial MRI obtained from 82 female and 101 male patients, between  ages  1-18  years  (averageage  10)  retrospectively  scanned  thereafter  type  and  locations  of  lesions  evaluated  by  a  9  years experienced radiologist.

Results: Out of 183 patients; 37 had no hamartomatous cranial lesions, 24 had optic gliomas or optic nerve thickening (9 bilaterally, 10 rightside, 5 leftside), 8 had plexiform neurofibromas (head or neck location), 9 had subcutaneous neurofibromas. Additionally 9 had intracranial arachnoid cysts, 6 low grade glial tumor, 1 medulloblastoma, 1 glioblastoma, 1 nodular heterotopia. Two patients had suspected low grade glial tumor and their size and view are stableat follow-up. The most common localization of hamartomatous lesions are the globus pallidus, dentate nucleus, mesencephalon, thalamus and pons respectively. The least common area is putamen. In addition, 3 patients are followed with Noonan Syndrome. In two of these patients, intracranial arachnoid cysts were observed in addition to hamartomatous lesions.

Conclusion: Neurofibromatosis type 1 is one of the tumor predisposition syndrome that leads to an increased incidence of malign and benign tumors, which are major cause of mortality and morbidity. Gliomas are the most common intracranial tumors and the second most common tumor type after neurofibromas. Regular follow up is important for early diagnosis and treatment of malignancy. Brain MRI is adequate and necessary imaging modality for the diagnosis and follow up of brain involment in Neurofibromatosis type 1 patients.

Keywords: Brain, MRI,, Neurofibromatosis type 1

References

  1. Mentzel HJ, Seidel J, Fitzek C, Eichhorn A,Vogt S, Reichenbach J R, et al. Pediatric brain MRI in neurofibromatosis type I. Eur Radiol 2005; 15:814–22.
  2. Keleşoğlu KS, Keskin S, Sivri M, Erdoğan H , Nayman A, Koplay M. Genel Tıp Derg 2014;24:150-4.
  3. Varan A, ̧Sen H, Aydın B, Yalçın B, Kutluk T, Akyüz C. Neurofibromatosis type 1 and malignancy in childhood. Clin Genet 2016; 89: 341–45.
  4. Evans DG, Howard E, GiblinC, Clancy T, Spencer H, Huson SM, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J MedGenet A 2010;152A: 327-32.
  5. Guillamo JS, Creange A, Kalifa C, Grill J, Rodriguez D, Doz F, et al. Prognosticfactors of CNS tumors in neurofibromatosis 1 (NF 1). A retrospective study of 104 patients. Brain 2003; 126:152–60.
  6. Mukonoweshuro W, Griffiths PD, Blaser S. Neurofibromatosis type 1: the role of neuroradiology. Neuropediatrics 1999; 30:111–19.
  7. Neurofibromatosis. Conference statement. NationalInstitutes of HealthConsensus Development Conference. ArchNeurol 1988; 45:575–8.
  8. Griffiths PD, Blaser S, Mukonoweshuro W, Armstrong D, Milo-Mason G, Cheung S. Neurofibromatosis bright objects in children with neurofibromatosis type 1: a proliferative potential ? Pediatrics 1999; 104: 49.9.
  9. Goldstein SM, Curless RG, Donovan Post MJ, R.M. Quencer A. A newsign of neurofibromatosis on magnetic resonance imaging of children. Arch Neurol 1989; 46: 1222- 4.
  10. Balestri P, Calistri L, Vivarelli R, Bartalini G, Mancini L, Berardi A, et al. Central nervoussystemimaging in reevaluation of patientswithneurofibromatosistype 1. ChildsNervSyst 1993; 9: 448- 51
  11. Özmen M. Nörokütan hastalıklar. İçinde: Neyzi O, Ertuğrul T (eds). Pediatri İstanbul: Nobel, 2002: 1368- 72.
  12. North K, Joy P, Yuille D, Cocks N, Mobbs E, Hutchins P, et al. Spesificlearningdisability in childrenwithneurofibromatosistype 1: significance of MRI abnormalities. Neurology 1994; 44: 878- 83.
  13. Joy P, Roberts C, North K, De Silva M. Neuropsychologicalfunctionand MRI abnormalities in neurofibromatosis type 1. Dev Med Child Neurol 1995; 37: 906- 14.
  14. Ozonoff S. Cognitiveimpairment in neurofibromatosistype 1. Am J Genet 1999; 89: 45- 52.
  15. Plon SE, Malkin D. Childhood cancer and heredity. In: Pizzo PA, Poplack DG, editors. Principles and practice of pediatric oncology, 5 ed. Lippincott-Roven, Philadelphia 2006: 14- 37.
  16. Saltık S, Dönmezer B, Yüksel E, Çakı S, Ergüven M. Nörofibromatozis tip 1 hastalarında klinik ve kraniyal manyetik rezonans görüntüleme özellikleri. Türk Pediatri Arşivi 2005; 40: 94- 101.
  17. Fluksová D. Neurofibromatóza typu 1, Pardubice, Çek Cumhuriyeti, University of Pardubice Faculty of Chemical Technology. 2018.
  18. Kinori M, Hodgson N, Zeid JL. Ophthalmic manifestations in neurofibromatosis type 1. Surv Ophthalmol 2018;63:18-33.
  19. Hirbe AC, Gutmann, DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol 2014;13:834-43.
  20. Gutmann DH. Recentin sight into neurofibromatosis type 1: clear genetic progress. Arch Neurol 1998; 55:778-80.
  21. Kresak JL, Walsh M. Neurofibromatosis: A Review of NF1, NF2, and Schwannomatosis. J Pediatr Genet 2016; 5:98–104.
  22. Elster AD. Radiologic screening in neurocutaneous syndromes: strategies and controversies. AJNR Am J Neuroradiol 1992;13:1078-82.
  23. Duffner PK, Cohen ME, Seidel FG, Shucard DW. The significance of MRI abnormalities in children with neurofibromatosis. Neurology 1989;39:373–78.
  24. Khan A,Beri S,Baheerathan A,Balki A,Hussain N,Gosalakkal J. Globus pallidus high-signal lesions: A predominant MRI finding in children with neurofibromatosis type. Ann Indian Acad Neurol2013;1:53-56.
  25. Rosser PRT. Intracranial neoplasms in children with neurofibromatosis 1. J Child Neurol 2002;17:630–37.
  26. Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis 1. Genet Med 2010; 12: 1–11.
  27. Yohay K. Neurofibromatosis type 1 and associated malignancies. Curr Neurol Neurosci Rep 2009; 9:247–53.28.
  28. Roach ES. Neurocutaneous syndromes. Pediatr Clin North Am 1992; 39: 91-20.29.
  29. Lewis RA, Gerson LP, Axelson KA, Riccardi VM, Whitford RP. Von Recklinghausen neurofibromatosis. II: Incidence of optic gliyoma. Ophthalmology 1984; 91: 929- 36.
  30. Kornreich L, Blaser S, Schwarz M, Shuper A, Vishne TH, Cohen IJ, et al. Optic pathway gliyoma: correlation of imaging findings with the presence of neurofibromatosis. R Am J Neuroradiol 2001;22:1963- 9.
  31. Korf BR. Malignancy in neurofibromatosis type 1. Oncologist 2000;5:477–85.
  32. Cohen BH, Kaplan AM, Packer RJ. Management of intracranialneoplasms in children with neurofibromatosis type 1 and 2. The Children’s Cancer Study Group. Pediatr Neurosurg 1990-1991:16: 66–72.
  33. Listernick R, Charrow J, Greenwald MJ, Esterly NB. Optic gliomas in children with neurofibromatosis type 1. J Pediatr 1989;114:788–92.34.
  34. Van Es S, North KN, McHugh K, De Silva M. MRI findings in children with neurofibromatosis type 1: a prospective study. Pediatr Radiol 1996;26:478-87.
  35. Menkes JH. Arachnoidal Cysts in Sarnat HB, Menkes HJ, editors. Child Neurology. 6th. ed. Lippincott Williams andWilkins, Philadelphia, 2000:377-37.
  36. Atalar, M , Karakuş, K , Yıldız, B , Şalk, İ. Location, sidedness, and sex distribution of incidental intracranial arachnoid cysts in childhood: An MRI study. Cumhuriyet Medical Journal 2018;40: 25-33.37.
  37. Sanchez-Marco SB, Lopez-Pison J, Serrano-Vinuales I, Troyas-Fernandez de Garayalde L, Lafuente-Hidalgo M, Monge-Galindo L. Neurofi bromatosis type 1 and att ention-defi cit disorder. Our current experience. Rev Neurol 2019;68:7-10.
  38. Martinez-Lage JF, Poza M, Rodriguez Costa T. Bilateral temporal arachnoid cysts in neurofibromatosis. J Child Neurol 1993;8:383-85.
  39. Cho SB, Kim HS, Yang, MS, Cho KW. Type 1 neurofibromatosis associated with asymptomatic cystic malformations of central nervous system (CNS). Int J Dermatol 2009; 48:330–2.
  40. 4Wegener M, Prause JU, Thygesen J, Milea D. Arachnoid cyst causing an optic neuropathy in neurofibromatosis 1. Acta Ophthalmol 2010;88:497-9.
  41. Riffaud L, Vinchon M, Ragragui O, Delestret I, Ruchoux MM, DhellemmesP Hemispheric cerebral gliomasin children with NF 1: arguments for along-term follow-up. Childs Nerv Syst 2002;18:43–7.
  42. Pollack IF, Shultz B, Mulvihill JJ. The management of brainstemgliomas in patients with neurofibromatosis 1. Neurology 1996;46:1652–60

Copyright and license

Copyright © 2021 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.

How to cite

1.
Yılmaz Ş, Arıbaş Öz N, Akmaz Ünlü H, Alımlı AG, Sivri M. NeurofibromatosisType 1: Clinical and Brain MRI findings in pediatric patients. Turk J Pediatr Dis [Internet]. 2021 May 25 [cited 2025 Aug. 23];15(3):181-6. Available from: https://turkjpediatrdis.org/article/view/784