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Neurofibromatosis Causes, Symptoms, Types, and Treatment

 Neurofibromatosis (NF) is an inherited disorder that causes tumors to grow in the brain, spinal cord, and nerves, often as a result of a genetic defect.


Types of neurofibromatosis

There are two types of this tumor, both of which cause the tumor to grow in different areas of the body:

  • Neurofibromatosis type 1: is more common than neurofibromatosis type 2. It causes tumors to form in different tissues and organs of the body. It also causes skin problems and bone deformities.
  • Neurofibromatosis type 2: It causes tumors to develop in the brain and spinal nerves.

Neurofibromatosis type 2

This type of tumor causes noncancerous tumors to grow on the nerves of the brain and spinal cord. Unlike type 1, a type 2 tumor usually shows no visible symptoms and is rare in children.

Tumors caused by NF2 are usually in the eighth cranial nerve, which connects the inner ear to the brain. These tumors are also called acoustic neuromas. It can cause hearing loss and balance problems.

Schwannoma is another type of tumor that can occur in people with this type of neuroma. These tumors arise from Schwann cells, which protect neurons and neurotransmitters. Schwannomas of the spinal cord are common in people with this type of tumor. If left untreated, it can cause paralysis.

Causes of a tumor

Often the cause is genetics, especially the second type. But according to statistics provided by health organizations, 30-50% of cases are caused by a random genetic mutation. Once the mutation occurs, the condition can be passed from one generation to the next.

Symptoms

Symptoms vary according to the location and size of the tumor, but common symptoms of this type of tumor include:

  • ringing in the ears;
  • Balance problems.
  • Glaucoma (an eye disease that damages the optic nerve).
  • hearing loss.
  • double vision;
  • Numbness or weakness in the arms and legs.
  • seizures;

Diagnosis

The doctor will perform a comprehensive medical examination as well as some diagnostic tests, such as:

  • Audiometry: To check for hearing impairment.
  • CT scan.
  • Magnetic resonance imaging.
  • Balance tests.
  • vision tests.
  • Genetic tests.

treatment

Although there is no cure for neurofibromatosis, symptoms can be controlled with treatment. Regular checkups and monitoring also help detect and treat any potential complications early. Patients should also have physical examinations, neurological exams, and a hearing test at least once a year.

Surgery may be recommended if the tumor has grown, increased in size, or caused sensory impairment. The surgeon removes the tumor safely without causing damage to the surrounding areas. Stereotactic radiosurgery may be an option to treat some tumors. This technique also uses targeted beams of radiation to attack and shrink tumors.

Depending on the type and location of tumors, chemotherapy may also be recommended to reduce the size of the tumor, making it easier to remove with surgery or radiation therapy.

Your doctor will likely develop a treatment plan that best suits your overall health and tumor.

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