Neurofibromatosis type 2 - Symptoms of neurofibromatosis type 2

The symptoms of neurofibromatosis type 2 (NF2) typically start when a person is in their late teens or early twenties, but they can develop at any age.

As NF2 causes non-cancerous (benign) tumours to grow in various part of the body, most of the problems caused by the condition are related to where these tumours develop.

Ear problems

Most people with NF2 develop benign tumours in the nerves used by the brain to help with hearing and sense of balance. These are known as vestibular schwannomas.

Vestibular schwannomas can cause ear problems such as:

• gradual hearing loss that usually gets worse over time
• a constant ringing or buzzing sound (tinnitus)
• balance problems, such as feeling dizzy – this is usually made worse when walking on uneven ground or moving around in the dark

These tumours tend to only cause problems in one ear initially, but both ears are often affected eventually.

Less common symptoms of vestibular schwannomas can include a feeling that your environment is spinning around you (vertigo), nausea and vomiting.

It's likely these tumours will grow larger over time, eventually causing additional symptoms such as:

• numbness in parts of your face
• weakness of your tongue, which can cause slurred or unusual-sounding speech and difficulty swallowing (dysphagia)
• facial pain, although this is less common

Cataracts

About two-thirds of people with NF2 develop cataracts. These are cloudy patches in the lens, the transparent structure at the front of the eye. 

Cataracts can make a person’s vision blurred or misty. However, they are usually mild in NF2 and rarely disrupt vision significantly.

Cataracts are normally associated with old age, but they can develop in children and young adults with NF2.

Read more about childhood cataracts.

Skin problems

Just over half of people with NF2 develop benign tumours on or underneath the surface of their skin. These are called schwannomas.

These often take the form of skin plaques. These are small, coloured, raised patches of skin that are usually less than 2cm across.

Tumours that develop under the skin can grow to around the size of a golf ball and they can be painful if they develop along a section of nerves.

Some people with NF2 also develop one or two coffee-coloured patches on their skin, called café au lait spots. However, having lots of café au lait spots is usually a sign of neurofibromatosis type 1 (NF1).

Peripheral neuropathy

Many people with NF2 will develop a condition called peripheral neuropathy. Peripheral neuropathy is where a section of the nervous system, known as the peripheral nervous system, becomes damaged.

Peripheral neuropathy can cause a wide range of symptoms, depending on which sections of the peripheral nervous system are damaged. Possible symptoms include:

• pins and needles in the affected body part 
• numbness and a reduced ability to feel pain or temperature changes, particularly in your feet
• a burning pain, usually in the feet and legs followed by the hands and arms as the neuropathy progresses
• muscle weakness

Read more about peripheral neuropathy.

Brain problems 

Around half of people with NF2 develop one or more benign tumours inside their brain. These types of tumours are called meningiomas.

Meningiomas may cause no noticeable problems. However, they can sometimes lead to an increase in pressure in and around the brain, causing symptoms such as:

• headaches
• vomiting
• seizures (fits)
• disturbances in vision, such as double vision

The tumours can also disrupt certain brain functions. Depending on where in the brain they are located, this may cause:

• personality changes
• weakness or numbness in one side of the body
• difficulty speaking, understanding words, writing and reading (aphasia)
• vision problems
• fits or blackouts
• memory problems
• loss of smell or a sensation of strange smells
• unsteadiness, loss of co-ordination and difficulty walking
• difficulty speaking and swallowing

Spinal cord problems

Around half of people with NF2 will develop one or more benign tumours inside their spinal cord. These are known as ependymomas.

The spinal cord is a long band of nerves that runs from your brain down the centre of the spine.

Around half of people who develop ependymomas will not have any noticeable symptoms. The remaining half may have the following symptoms:

• back pain
• muscle weakness
• unpleasant physical sensations in certain parts of the body, such as numbness, tingling, or a "crawling" sensation on the skin