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Neurofibromatosis 2


Definition:

Neurofibromatosis 2 (NF2) is a genetic disorder in which tumors form on the nerves of the brain and spine (the central nervous system).

See also: Neurofibromatosis 1 (NF1)

Alternative Names:

NF2; Bilateral acoustic neurofibromatosis; Central bilateral acoustic NF

Causes, incidence, and risk factors:

NF2 is passed down through families in an autosomal dominant pattern. This means that if one parent has NF2, any child of that parent has a 50-50 chance of having it.

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
  • Headaches
  • Hearing loss
  • Ringing and noises in the ears
  • Weakness of the face
Signs and tests:

Signs include:

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

Tests include:

  • Genetic testing
  • Medical history
  • MRI
  • Physical examination
Treatment:

Acoustic neuromas can be observed, or treated with surgery or radiation.

Patients may benefit from genetic counseling.

Every year, patients with NF2 should be evaluated with:

  • MRI of the brain and spinal cord
  • Hearing and speech evaluation
  • Eye exam
Support Groups:

For information and support, visit www.nf.org.

References:

Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6:340-351.

Haslam RHA. Neurocutaneous syndromes. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 596.


Review Date: 11/14/2011
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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