NF2-Related Schwannomatosis

What is NF2-related schwannomatosis?

NF2-related schwannomatosis is a rare genetic disorder of the nervous system. The nervous system mainly affects how nerve cells form and grow, but this disease causes tumors to form on this healthy nerve tissue. These tumors are usually non-cancerous, but sometimes they can become malignant.

What causes NF2-related schwannomatosis?

NF2-related schwannomatosis is caused by genetic defects (mutations) that either are inherited or spontaneously occur. The specific genes that are involved depend on the type of neurofibromatosis. In this variantm the NF2 gene is mutated, causing a loss of the protein merlin, which normally stops the development of tumors.

The inheritance pattern for NF2-related schwannomatosis is autosomal dominant.

What are the symptoms of NF2-related schwannomatosis?

Signs and symptoms of neurofibromatosis type 1 are the following:

Headaches
Seizures
Cataracts (cloudy vision)
Facial paralysis
Numbness and/or muscle weakness
Burning pain affecting the legs, feet, hands, or arms
Dizziness
Hearing issues

How is NF2-related schwannomatosis diagnosed?

A health care provider will begin with a review of family and personal medical history, a clinical evaluation can usually make a diagnosis. In addition, an eye exam, ear exam, genetic tests, and various imaging tests may also be used to confirm a diagnosis.

If there is no family history of the disease, there must be at least two signs of the condition for a diagnosis to be made.

What are the available treatments for NF2-related schwannomatosis?

Although there is no cure for any type of neurofibromatosis, treatment and monitoring can help control the symptoms of the disease, maximize healthy growth and development, and manage complications as soon as they arise.

The following procedures can help to treat severe symptoms or complications of the disease:

Surgery to remove tumors
Stereotactic radiosurgery
Auditory brainstem implants and cochlear implants
Chemotherapy (to reduce tumor size)
Mobility devices

Where can I find more information on NF2-related schwannomatosis?