Neurofibromatosis in Children

What is Neurofibromatosis in Children

Neurofibromatosis is a rare genetic disorder that causes skin and bone changes and the development of nerve tumors.

The tumors vary, depending on the type of neurofibromatosis your child has, but they are usually not cancerous (are usually benign). There are three types of neurofibromatosis:

  • Neurofibromatosis 1 (NF1). This is the most common type.
  • Neurofibromatosis 2 (NF2).
  • Schwannomatosis. This is the least common type.

In most cases, the condition gets worse over time.

What are the causes?

This condition is caused by a change, or mutation, in genes that control the growth of nerve cells. Your child may have neurofibromatosis:

  • At birth. This means that your child inherited mutated genes from his or her parents. Up to half of all cases of NF1 and NF2 are inherited.
  • After birth. This means that your child’s genes mutated after he or she was born. It is not known why this happens. This is the most common cause of schwannomatosis.

What are the signs or symptoms?

Symptoms of this condition depend on the type of neurofibromatosis your child has.

  • Signs and symptoms of NF1 usually begin in childhood. They may include:
    • Coffee-colored skin spots (cafe au lait spots).
    • Freckles in the groin or under the arms.
    • Benign tumors (neurofibromas) attached to one or more nerves.
    • Discolored specks in the colored part of the eye (iris).
    • Curving of the spine or other bone deformities.
    • Short stature.
    • Headaches.
    • Seizures.
    • Learning disabilities.
    • Poor growth.
  • Signs and symptoms of NF2 usually begin in early adulthood. They may include:
    • Benign tumors that develop on a nerve inside the ear (schwannoma).
    • Ringing in the ears.
    • Sudden hearing loss or hearing loss that gets worse over time.
    • Balance problems or dizziness.
    • Headache.
    • Ear pressure or pain.
    • Facial pain on the affected side.
    • Vision changes.
    • Numbness or weakness of the face on the affected side.
  • Signs and symptoms of schwannomatosis usually do not show up until adulthood. They may include:
    • Long-term pain. This is the most common symptom.
    • Development of numerous tumors throughout the body except in the ear.
    • Numbness.
    • Tingling.

How is this diagnosed?

This condition may be diagnosed based on your child’s symptoms and a physical exam. The health care provider may also do tests to help make the diagnosis. These may include:

  • Blood tests.
  • Genetic testing to look for gene mutations.
  • Imaging studies such as an MRI or CT scan.
  • Hearing, vision, and balance tests.
  • Tests for learning disabilities.

It may take many years for your child to be diagnosed with the disease because signs and symptoms may develop slowly.

How is this treated?

There is no cure for this condition, but treatment can help relieve symptoms. Treatment may include:

  • Medicines to control pain or seizures.
  • Physical therapy for disabilities.
  • Screening and close monitoring for complications, such as neurofibromas in the eye and brain.
  • Referral to treat bone and spine problems.
  • Growth hormone for short stature.
  • Surgery to remove tumors that cause symptoms or become disfiguring. There is a small chance that tumors in children with NF1 will become cancerous. Tumors that become cancerous may need to be treated with:
    • Surgery.
    • Radiation.
    • Medicines that kill cancer cells (chemotherapy).
    • Combination of surgery, radiation, or chemotherapy.

Follow these instructions at home:

Medicines

  • Give over-the-counter and prescription medicines only as told by your child’s health care provider.
  • Do not give your child aspirin because of the association with Reye syndrome.
  • Do not let your child drive or use heavy machinery while taking prescription pain medicine.
  • If your child is taking prescription pain medicine, take actions to prevent or treat constipation. Your child’s health care provider may recommend that you:
    • Give enough fluid to keep your child’s urine pale yellow.
    • Give him or her foods that are high in fiber, such as fresh fruits and vegetables, whole grains, and beans.
    • Limit foods that are high in fat and processed sugars, such as fried or sweet foods.
    • Give an over-the-counter or prescription medicine for constipation.

General instructions

  • Do not allow your child to take part in activities that increase his or her risk for injury. This is especially important if your child has dizziness or seizures. Ask your child’s health care provider what activities are safe for your child.
  • Pay attention to any changes in your child’s symptoms. Tell your child’s health care provider about any changes or new symptoms.
  • Keep all follow-up visits as told by your child’s health care provider. This is important. This may include visits for tests, therapy, or counseling.

Contact a health care provider if:

  • Your child develops any new symptoms.
  • Your child’s symptoms get worse.
  • Your child develops learning or behavior problems.

Get help right away if:

  • Your child has a seizure.
  • Your child has a severe headache.
  • Your child has a sudden change in vision, balance, or hearing.

Summary

  • Neurofibromatosis is a rare genetic disorder that causes skin and bone changes and the development of nerve tumors.
  • This condition is caused by a change, or mutation, in genes that control the growth of nerve cells.
  • Your child’s health care provider can diagnose the condition based on your child’s symptoms and a physical exam.
  • There is no cure for this condition. Treatment for your symptoms will be done by a team of health care specialists. It may include medicines, therapy, and surgery.
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