Symptoms and Diagnosis of NF2-related Schwannomatosis

Symptoms of NF2-related Schwannomatosis

There are different ways that NF2-related schwannomatosis can initially be suspected, for example, there may be a concern with hearing or balance. NF2 is sometimes diagnosed before any symptoms develop, either because it was suspected due to family history or if NF2 tumours were found incidentally (unexpectedly) on a body scan obtained for another reason (for example, a brain scan is done after a head injury, and reveals a vestibular schwannoma tumour).

Most of the symptoms in NF2 are caused by the growing benign tumours resulting an increased pressure in and around the brain and spine.

Most people with NF2 develop vestibular schwannomas. These usually cause symptoms such as:

Progressive hearing loss

Tinnitus (ringing or buzzing in the ears)

Difficulties with balance, especially in low light or on uneven surfaces.

Other symptoms may include:

Weakness in the arms and legs

Persistent headaches.

Vision problems

Difficulty in swallowing

Facial weakness

Foot or hand drop and squint.

Numbness and tingling in the feet or hands, burning, stabbing or shooting pain due to nerve damage.

Diagnosis of NF2-related Schwannomatosis

If NF2 is suspected, further tests – such as scans, hearing tests, sight tests or blood tests – may be recommended.

Genetic testing is not always necessary to make a diagnosis of NF2-related schwannomatosis, as the diagnosis can often be made just based on clinical features.

However, NF2 testing is highly recommended for,

Confirmation of the diagnosis

Understanding and predicting the severity of NF2

Allowing testing of family members who are at risk.

Family planning for future children.

Testing may be done in a blood or saliva sample but can also sometimes require tumour tissue, if available.

With this type of test, there are three possible results –

1.The test will identify a significant gene change in-keeping with full or mosaic NF2.

2. Test may not identify any significant gene changes on the NF2 gene. This might be because the altered gene is only present in some of a person’s cells, or because there may be genetic alterations involved in NF2 that our technology cannot yet detect.

3. Test may identify a gene change of uncertain significance, which is difficult to fully interpret using current scientific knowledge.

NF2-related Schwannomatosis

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Symptoms and Diagnosis of NF2-related Schwannomatosis

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