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 may be 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; Bilateral vestibular schwannomas; Central neurofibromatosis
Causes
NF2 is caused by a change in the gene NF2. NF2 can be 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% chance of inheriting the condition. Once someone carries the genetic change, their children have a 50% chance of inheriting it.
Some cases of NF2 occur when the gene mutates on its own. This is called sporadic and is not inherited. Once someone carries the genetic change, their children have a 50% chance of inheriting it.
Symptoms
Symptoms of NF2 include:
- Balance problems
- Cataracts at a young age
- Changes in vision
- Coffee-colored marks on the skin (caf�-au-lait), less common
- 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:
- Physical examination
- Medical history
- MRI
- CT scan
- Genetic testing
Treatment
Acoustic nerve 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
More information and support for people with NF2 and their families can be found at:
- Children's Tumor Foundation -- www.ctf.org
- Neurofibromatosis Network -- www.nfnetwork.org
References
Goldblum JR, Folpe AL, Weiss SW. Benign tumors of peripheral nerves. In: Goldblum JR, Folpe AL, Weiss SW, eds. Enzinger and Weiss's Soft Tissue Tumors.�7th ed. Philadelphia, PA: Elsevier; 2020:chap 26.
Safier RA, Cleves-Bayon C, Gaesser J.� Neurology. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 16.
Sahin M, Ullrich N, Srivastava S, Pinto AL. Neurocutaneous syndromes. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 636.
|
Review Date:
12/31/2023 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. |
All rights reserved.