Neurofibromatosis: types, causes, symptoms, diagnosis

What is neurofibromatosis?

- Neurofibromatosis is a genetic disorder of the nervous system or it can happen because of a mutation (change) in your genes.
- It mainly affects how nerve cells form and grow and it causes tumors to form on nerve tissue.
- These tumors can develop anywhere in your body including your brain, spinal cord and nerves.
- The tumors are usually non-cancerous (Benign), but sometime can become cancerous (malignant).

Types: 

There are three types of neurofibromatosis:

1- NF type 1 (von recklinghausen NF or peripheral NF)
2- NF type 2 ( bilateral acoustic NF (BNA),
3- Schwannomatosis.

Causes:

Neurofibromatosis is mostly inherited ( passed on by family members through our genes), but about 50% of people newly diagnosed, which can arise spontaneously through a mutation (change) in the genes.

Symptoms:

These are some symptoms include:

- Hearing loss
- Loss of vision
- Bone deformities
- Light brown spots on the skin
- Poor balance
- Loss of muscle

Diagnosis:

There are some test include:

- Physical examination
- Family history
- X- rays
- Computerized tomography (CT) scans
- Magnetic resonance imaging (MRI)
- Biopsy of neurofibromas
- Eye tests
- Test for particular symptoms such as, hearing or balance tests.


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