Neurofibromatosis

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For families who have a child with neurofibromatosis, life can feel unpredictable. At Advocate Children’s Hospital, we’re here to restore some calm. Our pediatric neurosurgery team has the training and experience to manage neurofibromatosis, with treatments that relieve symptoms and help your child feel their best.

What is neurofibromatosis?

Neurofibromatosis is a genetic disorder that affects the nervous system – the brain, spinal cord and nerves throughout the body. The disorder causes tumors that begin in cells that support nerves and form the myelin sheath, the protective membrane surrounding nerves.

Most neurofibromatosis tumors are noncancerous (benign) but can become cancerous (malignant). Depending on which nerves are affected, neurofibromatosis can cause a wide range of symptoms.

Types of neurofibromatosis

Three types of neurofibromatosis affect children and teens:

Neurofibromatosis 1 (NF1): Type 1 involves light brown spots on the skin, tumors under the skin, excess bone growth and scoliosis.
Neurofibromatosis 2 (NF2): This type involves tumors on spinal and cranial nerves. It particularly affects the auditory nerves, which send sound signals from the inner ear to the brain.
Schwannomatosis: This rare type causes schwannomas, or tumors in the Schwann cells that help form the nerve sheath. Despite the similarities in name, these tumors don’t include vestibular schwannomas, also known as acoustic neuromas.

What causes neurofibromatosis?

The causes of neurofibromatosis are not yet completely understood. Scientists are looking at mutations (changes) in genes that control cell production in the nervous system. The mutations may allow cells to multiply uncontrollably.

Up to half of neurofibromatosis cases result from a spontaneous gene mutation, which means doctors don’t know what caused the mutation. In the rest of the cases, people inherited the gene mutations from their parents.

Neurofibromatosis symptoms and signs

The signs and symptoms of neurofibromatosis depend on whether your child has NF1 or NF2.

Most signs of NF1 appear by age 10, with some noticeable at birth:

Abnormal bone development in the lower legs, skull or spine
Café au lait spots (flat, coffee-colored patches of skin)
Freckles in the armpits or groin
Larger tumors that involve multiple nerves, on or under the skin (plexiform neurofibromas)
Noncancerous growths on the eye (Lisch nodules)
Rubbery, pea-sized tumors under or on the skin (nodular neurofibromas)
Tumors on the optic nerve (optic glioma)

The most common tumors in NF2 are vestibular schwannomas, a type of brain tumor. These tumors grow on the nerves that transmit sound and balance signals from the inner ear to the brain. Signs and symptoms of vestibular schwannomas include:

Balance and walking problems
Gradual hearing loss
Headaches
Ringing and other noises in the ears

When schwannomas grow in other areas, they may cause:

Pain
Vision changes, such as cataracts at a young age
Weakness and numbness in the arms or legs
Weakness of facial muscles

Neurofibromatosis diagnosis

In our diagnostic process, your doctor asks about your child’s symptoms and medical history. They also ask if any family members have been diagnosed with a form of neurofibromatosis. The doctor then does a physical exam. Read about what to expect during your visit.

Our specialists may use other tests to confirm a diagnosis:

Magnetic resonance imaging (MRI): We create detailed images of the brain with powerful magnets and radio waves to look for tumors and bone problems. We offer fast MRI, with technology that corrects for movement so your child doesn’t need anesthesia.
Genetic testing: If the doctor suspects neurofibromatosis, genetic testing can help confirm or rule out a genetic change. Learn more about our genetics program.
Eye exam: Our ophthalmology specialists have expertise in working with children. An eye exam can show Lisch nodules, cataracts, or other eye or vision problems.

To treat symptoms and problems caused by neurofibromatosis, your child might need other tests, such as:

Balance and hearing tests: Specialists in our Audiology and Hearing Instrument Program offer testing to evaluate hearing and balance problems.
Biopsy: We take a small tissue sample from a café au lait spot or a tumor to examine under a microscope for signs of cancer.

Neurofibromatosis treatment options

Although neurofibromatosis is a lifelong condition without a cure, neurofibromatosis treatment options can help. Our options focus on relieving symptoms, monitoring your child’s health and treating tumors that begin to cause problems:

Monitoring: Our neurologists recommend annual checkups for your child to monitor their overall health. We check for new or changed skin tumors and can remove any that cause pain or may have become cancerous. We also recommend a set schedule for scans to check for new or changed tumors inside the body.
Medications: We treat symptoms such as headaches with pain medications. In 2020, selumetinib (Koselugo™) was federally approved to treat children age 2 and older who have NF1. The drug helps prevent tumor growth.
Hearing implants: If your child experiences hearing loss with NF2, cochlear implants and auditory brainstem implants can help. Find out about our pediatric ear, nose and throat specialists and their services.
Treatment for vestibular schwannomas: We usually monitor these tumors unless they cause hearing loss or press on nearby structures. If so, we can remove them surgically or treat them with radiation, whether or not they’re cancerous.
Treatment for other tumors: If your child has tumors in other areas that cause pain or cosmetic issues, our board-certified surgeons offer the latest techniques to remove them. Learn more about our teams in general surgery and plastic surgery.
Cancer treatment: For malignant tumors, our board-certified neurosurgeons and cancer specialists coordinate your child’s care. Find out more about our neurosurgery program and cancer care.
Rehabilitation therapy: We may refer your child to our rehabilitation and development team for physical and occupational therapy. Our skilled therapists guide your child through exercises to improve strength, flexibility and other abilities to help them stay active. We provide both inpatient and outpatient services.