Neurofibromatosis

What Causes Neurofibromatosis?

NF1, NF2 and SWN are genetic, which means they can be passed on in families from parent to child. The conditions are caused by a problem with a specific gene (the NF1 gene) in the body. Half or more of all children with neurofibromatosis type 1 inherit it from a parent with the condition. These cases have a change (genetic mutation) in the NF1 gene. Each child of a parent with the mutation has a 50% chance of having the condition.

The remaining cases happen on their own, by chance. This is called a spontaneous mutation. It does not come from either parent. Once a person has the mutation, it can be passed on to their children.

What Are the Signs and Symptoms of Neurofibromatosis?

Signs and symptoms of neurofibromatosis type 1 can change over time. They also vary from person to person. Common signs include:

• Six or more “café au lait” spots on the skin. These are flat, pale brown spots, or birthmarks. They may be there at birth, or they may show up in the first few years of life. They must be about 5 millimeters across or more — about the size of the eraser on a pencil.
• Two or more bumps on or just under the skin. These are normally soft and the size of a green pea. They are called cutaneous (skin) neurofibromas. In some cases, children don’t have these bumps. They may have a bump that is bigger and affects multiple nerves other than the spinal cord and brain. This is called a plexiform neurofibroma.
• Freckles in the groin or armpits. These are small spots that look a lot like café-au-lait spots, just smaller. They usually show up by the time a child is 5 years.
• Two or more eye bumps. These do not affect vision. They are just little growths on the colored part (iris) of the eye.
• An optic pathway tumor. This slow-growing tumor, called a glioma, most often affects younger children with neurofibromatosis. Most of the time these do not affect vision.
• Bone deformities. Some children have problems with the growth of the eye socket or the shin bone.

There are other signs and symptoms that are linked to neurofibromatosis type 1, although they are not usually the first problems leading to a diagnosis. These can include:

• Curved spine (scoliosis)
• Short height, with a big head for their size
• Problems with how a person relates visual information to the space around them (visuospatial skills or behavior)
• Heart and blood vessel problems, such as heart defects, high blood pressure or damaged blood vessels
• Headaches, seizures and pain
• Cancerous (malignant) tumors

Low-grade/slow-growing tumors elsewhere in the brain, in the spine, starting in nerves exiting spinal cord, or in skin and soft tissue.

See a doctor right away if your child has:

• Seizures
• A headache or other pain that won’t go away
• Vision, hearing or balance problems
• Weakness or numbness
• Changes in abilities (not being able to do something they used to know how to do)
• A bump that is interfering with daily life
• Trouble catching their breath
• Any other health change that worries you

You know your child best. Always talk to a doctor if you think your child needs help, or if you are worried about their health. If you seek care from a new doctor, always tell them about your child’s diagnosis so they know how to treat your child.

How Is Neurofibromatosis Diagnosed?

Children with this condition are sometimes diagnosed because a family member is diagnosed first. In some cases, genetic testing, done with a blood sample, is all that may be needed for a diagnosis. For most patients, the doctor will ask about your child’s health history and do a physical exam.

Your child will likely need imaging tests, especially if they have neurologic symptoms or vision changes. Magnetic resonance imaging (MRI) can help find any tumors on the brain or spinal cord. Extra imaging may be done on certain tumors to get more information. If a tumor is found, doctors will decide whether to perform a biopsy or surgery based on where the tumor is located, how it looks in imaging scans, any changes over time, and symptoms.

How Is Neurofibromatosis Treated?

Many people with neurofibromatosis type 1 do not need treatment. Many of the tumors can be monitored over time, without treatment, if they are not causing symptoms or growing rapidly. If a tumor causes pain, trouble with vision, other neurology deficits, or other problems, it may require treatment. This might include surgery, conventional chemotherapy or oral targeted (MEK inhibitor) therapy.

Children who have optic pathway gliomas (tumors involving the visual pathway between the eye and brain) may be treated with chemotherapy or oral targeted therapy if the child's vision worsens. This type of tumor is often hard to reach through surgery.

Some issues can be stopped before they begin, or made less serious by getting care early. Children with neurofibromatosis can be checked over time for problems with behavior, learning or social problems. The neurofibromatosis care team can work with parents, schools and other experts to come up with a plan to give your child the best chance at healthy development.

Other symptoms are managed as they come up. These can include the use of a brace for a curved spine, or medicine to treat high blood pressure or headaches, for example.

What to Expect with Fibromatosis

Life with neurofibromatosis is fairly normal for most children. For others, it may vary depending on burden of disease, symptoms related to tumors, and potential cognitive changes (neurocognitive deficits). Your child’s care plan will depend on their symptoms, as well as the size and location of any tumors. The care plan will change over time. Although your child may not often need treatment, it will be important to have regular visits with a care team that understands your child’s condition.

This health condition is always changing. In most cases, the new changes are managed when they come up, and then life returns to normal.

Making sure your child sees a specialist for ongoing monitoring is the most important thing you can do to protect your child’s health. This allows for early care if tumors or other symptoms start to cause problems.

Why Choose Nationwide Children's?

The Neuro-Oncology Program at Nationwide Children’s Hospital offers clinical excellence in treating children, adolescents, and young adults with brain and spine tumors. Your child will have access to doctors who are experts in different types of medical care. We call this multidisciplinary care. Depending on the specific tumor diagnosis and treatment plan, your team may include oncologists, neurosurgeons, radiation oncologists, clinical psychologists, rehabilitation medicine doctors, neurologists, endocrinologists, ophthalmologists, therapists (physical, occupational, speech, art, music), social workers, dietitians and/or pharmacists. These team members all work together with the family to provide the best care for the patient.

Cancer Clinical Research

Nationwide Children’s is a national leader in oncology research and clinical trials. There are many ongoing research studies aimed at improving outcomes for children and young adults with brain/spine tumors—understanding why these tumors develop and how to appropriately target them. We are members of all major pediatric brain tumor clinical trial consortia including Pediatric Brain Tumor Consortium (PBTC), Collaborative Network of Neuro-oncology Clinical Trials (CONNECT), Pacific Neuro-oncology Consortium (PNOC) and the Children’s Oncology Group (COG). We have many open clinical trials testing new drugs in difficult-to-treat tumors.

Clinical Research and Trials at Nationwide Children's

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