Neurofibromatosis 2
NF2; Bilateral acoustic neurofibromatosis; Bilateral vestibular schwannomas; Central neurofibromatosisNeurofibromatosis 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.
Neurofibromatosis type 1
Neurofibromatosis-1 (NF1) is an inherited disorder in which nerve tissue tumors (neurofibromas) form in the: Bottom layer of skin (subcutaneous tissu...
Causes
NF2 is caused by a mutation 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. Some cases of NF2 occur when the gene mutates on its own. Once someone carries the genetic change,their children have a 50% chance of inheriting it.
Autosomal dominant
Autosomal dominant is one of many ways that a trait or disorder can be passed down through families. In an autosomal dominant disease, if you get the...
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), 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
MRI
A magnetic resonance imaging (MRI) scan is an imaging test that uses powerful magnets and radio waves to create pictures of the body. It does not us...
ImageRead Article Now Book Mark Article - CT scan
- Genetic testing
Treatment
Acoustic tumors can be observed, or treated with surgery or radiation.
Radiation
Radiation therapy uses high-powered x-rays, particles, or radioactive seeds to kill cancer cells.
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
The following resources can provide more information on NF2:
- Children's Tumor Foundation -- www.ctf.org
- Neurofibromatosis Network -- www.nfnetwork.org
References
Sahin M, Ullrich N, Srivastava S, Pinto A. Neurocutaneous syndromes. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 614.
Slattery WH. Neurofibromatosis 2. In: Brackmann DE, Shelton C, Arriaga MA, eds. Otologic Surgery. 4th ed. Philadelphia, PA: Elsevier; 2016:chap 57.
Varma R, Williams SD. Neurology. In: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 16.
Central nervous system and peripheral nervous system - illustration
The central nervous system comprises the brain and spinal cord. The peripheral nervous system includes all peripheral nerves.
Central nervous system and peripheral nervous system
illustration
Review Date: 10/3/2019
Reviewed By: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
