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Neurofibromatosis 2

  • Definition
    • Neurofibromatosis 2 (NF2) is a disorder in which tumors form on the nerves of the brain and spine (the central nervous system). It is passed down (inherited) in families.

      Although it has a similar name to neurofibromatosis type 1, it is a different and separate condition.

  • Alternative Names
    • NF2; Bilateral acoustic neurofibromatosis; Central bilateral acoustic NF

  • Causes
    • NF2 can be passed down through families in an autosomal dominant pattern. This means that if 1 parent has NF2, any child of that parent has a 50% chance of inheriting the condition.

      The main risk factor is having a family history of the condition.

  • Symptoms
    • Symptoms of NF2 include:

      • Balance problems
      • Cataracts at a young age
      • Changes in vision
      • Coffee-colored marks on the skin (cafĂ©-au-lait)
      • Headaches
      • Hearing loss
      • Ringing and noises in the ears
      • Weakness of the face
  • Exams and Tests
    • Signs of NF2 include:

      • Brain and spinal tumors
      • Hearing-related (acoustic) tumors
      • Skin tumors

      Tests include:

      • Genetic testing
      • Medical history
      • MRI
      • Physical examination
  • Treatment
    • Acoustic tumors can be observed, or treated with surgery or radiation.

      People with this disorder may benefit from genetic counseling.

      People with NF2 should be regularly evaluated with these tests:

      • MRI of the brain and spinal cord
      • Hearing and speech evaluation
      • Eye exam
  • Support Groups
    • A support group can be helpful for emotional support and for giving and receiving practical advice. For information and support, visit www.ctf.org.

  • References
    • Evans DG. Neurofibromatosis 2. GeneReviews. Seattle, WA; University of Washington; 2011:8. www.ncbi.nlm.nih.gov/books/NBK1201/. Accessed: October 24, 2015.

      Sahin M. Neurocutaneous syndromes. In: Kliegman RM, Stanton BF, St Geme III JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 596.