Neurofibromatosis and Hydrocephalus

  • Bahattin Tanrıkulu
  • M. Memet ÖzekEmail author
Living reference work entry


Neurofibromatosis(NF) is one of the hereditary neurocutaneous syndromes characterized by multiple tumors or hamartomas of central and peripheral nervous system and also concomitant skin and musculoskeletal system manifestations. There are two main types of NF, NF1 and NF2.

Tumors, hamartomas, and other developmental pathologies that interfere with the circulation or absorption of cerebrospinal fluid (CSF) may cause hydrocephalus in NF1. Large bilateral vestibular schwannomas and any other intracranial tumors related to NF2 may lead hydrocephalus by narrowing or obstructing the CSF passages. Treatment of hydrocephalus in NF depends on the underlying pathology that interferes with cerebrospinal fluid dynamics. Treatment strategies for hydrocephalus in NF include endoscopic third ventriculostomy, ventriculoperitoneal shunt implantation, and removal of the obstructive lesion.


Neurofibromatosis NF1 NF2 Hydrocephalus ETV Ventriculoperitoneal shunt 


  1. Afifi AK, Jacoby CG, Bell WE, Menezes AH (1988) Aqueductal stenosis and neurofibromatosis: a rare association. J Child Neurol 3(2):125–130CrossRefPubMedGoogle Scholar
  2. Ardakani SKA, Aoude A, Ghodsi SM, Abdollahzadeh S, Khoshnevisan A (2014) Endoscopic third ventriculostomy in patients with vestibular schwannoma and hydrocephalus: a clinical trial. Neurosurg Q 24(4):267–271CrossRefGoogle Scholar
  3. Arkadir D, Fellig Y, Gomori MJ, Linetsky E, Shalom E, Lossos A (2012) Aggressive leptomeningeal gliomatosis in neurofibromatosis type 1. J Clin Oncol 30(27):e269–e270. Scholar
  4. Bailey P, Robitaille Y (1985) Primary diffuse leptomeningeal gliomatosis. Can J Neurol Sci 12(3):278–281CrossRefPubMedGoogle Scholar
  5. Balestrazzi P, de Gressi S, Donadio A, Lenzini S (1989) Periaqueductal gliosis causing hydrocephalus in a patient with neurofibromatosis type 1. Neurofibromatosis 2(5–6):322–325PubMedGoogle Scholar
  6. Blakeley JO, Evans DG, Adler J, Brackmann D, Chen R, Ferner RE, … Giovannini M (2012) Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2. Am J Med Genet A 158A(1):24–41. Scholar
  7. Castillo M, Kwock L, Green C, Schiro S, Wilson JD, Greenwood R (1995) Proton MR spectroscopy in a possible enhancing hamartoma in a patient with neurofibromatosis type 1. AJNR Am J Neuroradiol 16(4 Suppl):993–996PubMedGoogle Scholar
  8. Chan JW (2012) Neuro-ophthalmic features of the neurocutaneous syndromes. Int Ophthalmol Clin 52(3):73–85, xi. Scholar
  9. Chattopadhyay A, Kher AS, Thamke RM, Deshmukh CT, Bharucha BA (1994) Neurofibromatosis presenting with aqueductal stenosis. Indian J Pediatr 61(5):586–587CrossRefPubMedGoogle Scholar
  10. Corkill AG, Ross CF (1969) A case of neurofibromatosis complicated by medulloblastoma, neurogenic sarcoma, and radiation-induced carcinoma of thyroid. J Neurol Neurosurg Psychiatry 32(1):43–47CrossRefPubMedPubMedCentralGoogle Scholar
  11. DeBella K, Poskitt K, Szudek J, Friedman JM (2000a) Use of “unidentified bright objects” on MRI for diagnosis of neurofibromatosis 1 in children. Neurology 54(8):1646–1651CrossRefPubMedGoogle Scholar
  12. DeBella K, Szudek J, Friedman JM (2000b) Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 105(3 Pt 1):608–614CrossRefPubMedGoogle Scholar
  13. Dincer A, Yener U, Ozek MM (2011) Hydrocephalus in patients with neurofibromatosis type 1: MR imaging findings and the outcome of endoscopic third ventriculostomy. AJNR Am J Neuroradiol 32(4):643–646. Scholar
  14. Dunn IF, Agarwalla PK, Papanastassiou AM, Butler WE, Smith ER (2007) Multiple pilocytic astrocytomas of the cerebellum in a 17-year-old patient with neurofibromatosis type I. Childs Nerv Syst 23(10):1191–1194. Scholar
  15. Evans DG, Moran A, King A, Saeed S, Gurusinghe N, Ramsden R (2005) Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought. Otol Neurotol 26(1):93–97CrossRefPubMedGoogle Scholar
  16. Evans DG, Kalamarides M, Hunter-Schaedle K, Blakeley J, Allen J, Babovic-Vuskanovic D, … Giovannini M (2009) Consensus recommendations to accelerate clinical trials for neurofibromatosis type 2. Clin Cancer Res 15(16):5032–5039. Scholar
  17. Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F (2010) Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A 152A(2):327–332. Scholar
  18. Foote KD, Friedman WA, Buatti JM, Meeks SL, Bova FJ, Kubilis PS (2001) Analysis of risk factors associated with radiosurgery for vestibular schwannoma. J Neurosurg 95(3):440–449. Scholar
  19. Friedman JM (1993) Neurofibromatosis 1. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K (eds) GeneReviews(R). Seattle. Seattle (WA): University of Washington, Seattle; 1993-2018. ISSN: 2372-0697Google Scholar
  20. Funasaki H, Winter RB, Lonstein JB, Denis F (1994) Pathophysiology of spinal deformities in neurofibromatosis. An analysis of seventy-one patients who had curves associated with dystrophic changes. J Bone Joint Surg Am 76(5):692–700CrossRefPubMedGoogle Scholar
  21. Gelabert Gonzales M, Bollar Zabala A, Prieto Gonzalez A et al (1990) Neurofibromatosis and stenosis of aqueduct of sylvius: a magnetic resonance assessment [Spanish]. Rev Med Univ Navarra 34:17–19Google Scholar
  22. Gonen O, Wang ZJ, Viswanathan AK, Molloy PT, Zimmerman RA (1999) Three-dimensional multivoxel proton MR spectroscopy of the brain in children with neurofibromatosis type 1. AJNR Am J Neuroradiol 20(7):1333–1341PubMedGoogle Scholar
  23. Griffiths PD, Blaser S, Mukonoweshuro W, Armstrong D, Milo-Mason G, Cheung S (1999) Neurofibromatosis bright objects in children with neurofibromatosis type 1: a proliferative potential? Pediatrics 104(4):e49CrossRefPubMedGoogle Scholar
  24. Hayhurst C, Javadpour M, O’Brien DF, Mallucci CL (2006) The role of endoscopic third ventriculostomy in the management of hydrocephalus associated with cerebellopontine angle tumours. Acta Neurochir (Wien) 148(11):1147–1150; discussion 1150. Scholar
  25. Ho SY, Kveton JF (2002) Rapid growth of acoustic neuromas after stereotactic radiotherapy in type 2 neurofibromatosis. Ear Nose Throat J 81(12):831–833PubMedGoogle Scholar
  26. Horwich A, Riccardi VM, Francke U (1983) Brief clinical report: aqueductal stenosis leading to hydrocephalus – an unusual manifestation of neurofibromatosis. Am J Med Genet 14(3):577–581. Scholar
  27. Janet Elgallab JG (2015) Hydrocephalus in neurofibromatosis-three cases with different etiologies. Neurology 84(14):104Google Scholar
  28. Jett K, Friedman JM (2010) Clinical and genetic aspects of neurofibromatosis 1. Genet Med 12(1):1–11. Scholar
  29. Kamran SC, Howard SA, Shinagare AB, Krajewski KM, Jagannathan JP, Hornick JL, Ramaiya NH (2013) Malignant peripheral nerve sheath tumors: prognostic impact of rhabdomyoblastic differentiation (malignant triton tumors), neurofibromatosis 1 status and location. Eur J Surg Oncol 39(1):46–52. Scholar
  30. Kawano H, Hayashi M, Kabuto M, Kubota T, Yamamoto S (1985) Von Recklinghausen neurofibromatosis complicated with aqueductal stenosis. Report of two adult cases. Rinsho Shinkeigaku 25(3):336–341PubMedGoogle Scholar
  31. King JA, Halliday W, Drake JM (2008) High-grade primary diffuse leptomeningeal gliomatosis in a child with neurofibromatosis type 1. J Neurosurg Pediatr 2(6):402–405. Scholar
  32. Krajevsca G, Perniola T (1979) Central von Recklinghausen disease: report of a clinical case with multifocal symptoms and hydrocephalus due to stenosis of the aqueduct (author’s transl) [In Italian]. Riv Patol Nerv Ment 99:308–316Google Scholar
  33. Krauss JK, Nobbe F, Wakhloo AK, Mohadjer M, Vach W, Mundinger F (1992) Movement disorders in astrocytomas of the basal ganglia and the thalamus. J Neurol Neurosurg Psychiatry 55(12):1162–1167CrossRefPubMedPubMedCentralGoogle Scholar
  34. Kulkarni AV, Drake JM, Kestle JR, Mallucci CL, Sgouros S, Constantini S, Canadian Pediatric Neurosurgery Study Group (2010) Endoscopic third ventriculostomy vs cerebrospinal fluid shunt in the treatment of hydrocephalus in children: a propensity score-adjusted analysis. Neurosurgery 67(3):588–593. Scholar
  35. Listernick R, Charrow J (1990) Neurofibromatosis type 1 in childhood. J Pediatr 116(6):845–853CrossRefPubMedGoogle Scholar
  36. Listernick R, Ferner RE, Liu GT, Gutmann DH (2007) Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol 61(3):189–198. Scholar
  37. Little H, Kamat D, Sivaswamy L (2015) Common neurocutaneous syndromes. Pediatr Ann 44(11):496–504. Scholar
  38. Maria BL, Cafferty LL, Singer HS, Epstein JI, Carson BS (1986) Diffuse leptomeningeal seeding from a malignant spinal cord astrocytoma in a child with neurofibromatosis. J Neurooncol 4(2):159–163CrossRefPubMedGoogle Scholar
  39. Martinez-Lage JF (2010) Posterior fossa tumors in children with neurofibromatosis type 1 (NF1). Childs Nerv Syst 26(11):1491; author reply 1493. Scholar
  40. Mautner VF, Lindenau M, Baser ME, Hazim W, Tatagiba M, Haase W, … Pulst SM (1996) The neuroimaging and clinical spectrum of neurofibromatosis 2. Neurosurgery 38(5):880–885; discussion 885–886CrossRefPubMedGoogle Scholar
  41. McCaughan JA, Holloway SM, Davidson R, Lam WW (2007) Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1. J Med Genet 44(7):463–466. Scholar
  42. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference (1988) Arch Neurol 45(5):575–578CrossRefGoogle Scholar
  43. Oka K, Kin Y, Go Y, Hirakawa K, Tomonaga M, Inoue T, Yoshioka S (1999) Neuroendoscopic approach to tectal tumors: a consecutive series. Neurosurg Focus 6(4):e14. Scholar
  44. Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas N (1994) Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet 52(4):450–461. Scholar
  45. Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viano J, Carceller-Benito F (2007) Aqueductal stenosis in the neurofibromatosis type 1. Presentation of 19 infantile patients. Rev Neurol 45(1):18–21PubMedGoogle Scholar
  46. Pirouzmand F, Tator CH, Rutka J (2001) Management of hydrocephalus associated with vestibular schwannoma and other cerebellopontine angle tumors. Neurosurgery 48(6):1246–1253; discussion 1253–1254PubMedGoogle Scholar
  47. Pou-Serradell A, Ugarte-Elola AC (1989) Hydrocephalus in neurofibromatosis. Contribution of magnetic resonance imaging to its diagnosis, control and treatment. Neurofibromatosis 2(4):218–226PubMedGoogle Scholar
  48. Radhakrishnan K, Kak VK, Sridharan R, Chopra JS (1981) Adult aqueductal stenosis with Recklinghausen’s neurofibromatosis. Surg Neurol 16(4):262–265CrossRefPubMedGoogle Scholar
  49. Riccardi VM (1982) Neurofibromatosis: clinical heterogeneity. Curr Probl Cancer 7(2):1–34CrossRefPubMedGoogle Scholar
  50. Riviello JJ Jr, Marks HG, Lee MS, Mandell GA (1988) Aqueductal stenosis in neurofibromatosis. Neurofibromatosis 1(5–6):312–317PubMedGoogle Scholar
  51. Roth J, Ber R, Wisoff JH, Hidalgo ET, Limbrick DD, Berger DS, … Constantini S (2017) Endoscopic third ventriculostomy in patients with neurofibromatosis type 1: a multicenter international experience. World Neurosurg 107:623–629. Scholar
  52. Ruggieri M, Iannetti P, Polizzi A, La Mantia I, Spalice A, Giliberto O, … Pavone L (2005) Earliest clinical manifestations and natural history of neurofibromatosis type 2 (NF2) in childhood: a study of 24 patients. Neuropediatrics 36(1):21–34. Scholar
  53. Ruggieri M, Pratico AD, Evans DG (2015) Diagnosis, management, and new therapeutic options in childhood neurofibromatosis type 2 and related forms. Semin Pediatr Neurol 22(4):240–258. Scholar
  54. Senveli E, Altinors N, Kars Z, Arda N, Turker A, Cinar N, Yalniz Z (1989) Association of von Recklinghausen’s neurofibromatosis and aqueduct stenosis. Neurosurgery 24(1):99–101CrossRefPubMedGoogle Scholar
  55. Shin HJ, Cho BK, Jung HW, Wang KC (1998) Pediatric pineal tumors: need for a direct surgical approach and complications of the occipital transtentorial approach. Childs Nerv Syst 14(4–5):174–178CrossRefPubMedGoogle Scholar
  56. Spadaro A, Ambrosio D, Moraci A, Albanese V (1986) Nontumoral aqueductal stenosis in children affected by von Recklinghausen’s disease. Surg Neurol 26(5):487–495CrossRefPubMedGoogle Scholar
  57. Sufianov AA, Sufianova GZ, Iakimov IA (2010) Endoscopic third ventriculostomy in patients younger than 2 years: outcome analysis of 41 hydrocephalus cases. J Neurosurg Pediatr 5(4):392–401. Scholar
  58. Sylvester CL, Drohan LA, Sergott RC (2006) Optic-nerve gliomas, chiasmal gliomas and neurofibromatosis type 1. Curr Opin Ophthalmol 17(1):7–11. Scholar
  59. Tang TT, Whelan HT, Meyer GA, Strother DR, Blank EL, Camitta BM, Franciosi RA (1991) Optic chiasm glioma associated with inappropriate secretion of antidiuretic hormone, cerebral ischemia, nonobstructive hydrocephalus and chronic ascites following ventriculoperitoneal shunting. Childs Nerv Syst 7(8):458–461CrossRefPubMedGoogle Scholar
  60. Tanrıkulu B, Singh G, Özek MM (2015) Surgical approach to mesencephalic tumors. In: Cinalli G, Özek MM, Maixner W, Sainte-Rose C (eds) Posterior fossa tumors in children, 1st edn. Springer International Publishing, Cham, pp 545–556Google Scholar
  61. Ternier J, Wray A, Puget S, Bodaert N, Zerah M, Sainte-Rose C (2006) Tectal plate lesions in children. J Neurosurg 104(6 Suppl):369–376. Scholar
  62. Tripathy K, Mallik R, Mishra A, Misra D, Rout N, Nayak P, … Rath J (2010) A rare malignant triton tumor. Case Rep Neurol 2(2):69–73. Scholar
  63. Trofatter JA, MacCollin MM, Rutter JL, Murrell JR, Duyao MP, Parry DM, … et al (1993) A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell 75(4):826Google Scholar
  64. Ullrich NJ, Raja AI, Irons MB, Kieran MW, Goumnerova L (2007) Brainstem lesions in neurofibromatosis type 1. Neurosurgery 61(4):762–766; discussion 766–767. Scholar
  65. Umemura K, Hayashi N, Hamada H, Endo S, Takaku A (1998) Endoscopic third ventriculostomy in a case of obstructive hydrocephalus with neurofibromatosis (NF-1). No To Shinkei 50(5):427–431PubMedGoogle Scholar
  66. Van Es S, North KN, McHugh K, De Silva M (1996) MRI findings in children with neurofibromatosis type 1: a prospective study. Pediatr Radiol 26(7):478–487CrossRefPubMedGoogle Scholar
  67. Vinchon M, Soto-Ares G, Ruchoux MM, Dhellemmes P (2000) Cerebellar gliomas in children with NF1: pathology and surgery. Childs Nerv Syst 16(7):417–420. Scholar
  68. Zamboni SL, Loenneker T, Boltshauser E, Martin E, Il’yasov KA (2007) Contribution of diffusion tensor MR imaging in detecting cerebral microstructural changes in adults with neurofibromatosis type 1. AJNR Am J Neuroradiol 28(4):773–776PubMedGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of Neurosurgery, Division of Pediatric NeurosurgeryAcibadem University School of MedicineIstanbulTurkey

Section editors and affiliations

  • Giuseppe Cinalli
    • 1
  1. 1.Department of Pediatric NeurosurgerySantobono-Pausilipon Children’s HospitalNaplesItaly

Personalised recommendations