Neurological Spine Disorders

Neurofibromatosis

What is neurofibromatosis?

Neurofibromatosis is a disorder in which tumors grow on nerve tissue. In addition to resulting in brain, spine and peripheral nerve tumors, neurofibromatosis can also cause painful skin lesions.

What are the types of neurofibromatosis?

Neurofibromatosis type 1

Neurofibromatosis 1, also called NF1, is a condition that causes brown spots and tumors on the skin. Freckling in skin areas not exposed to the sun, as well as tumors on the nerves, may result in developmental changes in the nervous system, muscles, bone and skin.

Neurofibromatosis type 2

A condition in which tumors form on the nerves, often in the inner ear, causing potential loss of hearing and balance. Tumors may also occur in the brain and on nerves in the skull and spinal cord and cause loss of speech and eye movement, and an inability to swallow. Neurofibromatosis type 2 is also called acoustic neurofibromatosis or NF2.

What are the symptoms of neurofibromatosis?

How is neurofibromatosis diagnosed?

A doctor will usually perform a neurologic exam to diagnose neurofibromatosis, looking for the following signs:

These tests may help your doctor see the tumor and learn more about it:

How is neurofibromatosis treated and managed?

There is no known cure for neurofibromatosis but treatments are aimed at reducing or eliminating symptoms. Treatment is different for everyone and depends on tumor type, its location and your overall health. Treatment options include:

Surgical treatment may be needed if the patient experiences persistent neurologic symptoms or conservative therapies have been unsuccessful.

After treatment, patients often receive ongoing follow up care. Lifetime monitoring may be recommended to guard against tumor recurrence. Goals of care include maintaining a healthy weight, avoiding heavy, excessive lifting and smoking cessation.

How can neurofibromatosis be prevented?

There is no known way to prevent neurofibromatosis. However, neurofibromatosis can be genetically linked and may be passed on from parent to child. Genetic counseling may be considered for guidance before deciding to have a child.

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