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Neurofibromatosis 2

NF2; Bilateral acoustic neurofibromatosis; Central bilateral acoustic NF

 

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.

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 (café-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.

 
  • Central nervous system - illustration

    The central nervous system is comprised of the brain and spinal cord. The peripheral nervous system includes all peripheral nerves.

    Central nervous system

    illustration

    • Central nervous system - illustration

      The central nervous system is comprised of the brain and spinal cord. The peripheral nervous system includes all peripheral nerves.

      Central nervous system

      illustration

    A Closer Look

     

       

      Review Date: 10/27/2015

      Reviewed By: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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