Neurofibro­matosis in Children

Neurofibromatosis affects your child’s skin and nervous system. Cells grow too quickly and cause tumors to grow all over their body, particularly on nerve tissue. This can affect their skin, organs, bones and more. There are two main types of this condition.

Types of neurofibromatosis

Neurofibromatosis type 1 (NF1), also called von Recklinghausen disease, is the most common type. Neurofibromatosis type 1 produces different types of benign tumors on the skin, internal organs and nerves. This includes the eyes, brain, spine and small intestine, along with other areas in the body. Besides tumors, other symptoms may include:

• Flat, brown patches on the skin (café-au-lait spots).
• Benign eye growths (Lisch nodules).
• An unusually large head (macrocephaly).
• Curved spine (scoliosis).
• Bow legs.
• Learning conditions.
• Speech conditions.
• Seizures.
• Attention-deficit/hyperactivity disorder (ADHD).

NF2-related schwannomatosis (NF2) is less common. It was previously known as neurofibromatosis type 2. This type can affect the brain, spine, hearing nerves (auditory nerves) and skin. Signs of NF2 may include:

• Dizziness.
• Hearing loss.
• Ringing in the ears (tinnitus).
• Headaches.
• Weakness in the arms, legs and face.

Your child may have been diagnosed with neurofibromatosis soon after birth. Other times, symptoms start showing up later, even into their teens. But no matter when your child starts showing signs of neurofibromatosis, we have an experienced pediatric team ready to help them manage their condition.

What to expect at your first visit

Learning your child has a chronic health condition can be stressful and leave you with a lot of worries. Your Cleveland Clinic Children’s providers understand that. That’s why we ease you and your child into this at your first appointment. We’ll start off by getting to know each other, answering your questions — and listening to your child’s story.

Their provider will ask a lot of questions so they can get a better idea of what’s happening, like:

• What symptoms are they having?
• When did you first notice these symptoms?
• Have the symptoms been getting worse?
• How are the symptoms affecting your child’s life?
• Does anyone else in your family have neurofibromatosis?

During this visit, your child will also have a physical exam. Their provider will look for visible signs of NF1 or NF2 like tumors, skin symptoms, high blood pressure, vision, hearing and bone conditions and more. They’ll also order tests to help confirm a diagnosis. Neurofibromatosis tests may include:

• Genetic testing.
• Hearing tests.
• Vision tests.
• Eye exams.
• MRI.
• Biopsy.

Meet Our Neurofibromatosis in Children Team

When you come to Cleveland Clinic Children’s, your child will benefit from our team-based approach to care. This means they’ll have a team of pediatric providers from different specialties. These specialists will work together to build a treatment plan based on your child’s needs and diagnosis. Your child’s team may include:

• Pediatric neurologists.
• Pediatric ophthalmologists.
• Pediatric dermatologists.
• Pediatric orthopaedists.
• Pediatric otolaryngologists.
• Pediatric cardiologists.
• Pediatric gastroenterologists.
• Pediatric neurosurgeons.
• Pediatric plastic surgeons.
• Pediatric radiologists.
• Pediatric speech therapists.
• Pediatric physical therapists.
• Pediatric occupational therapists.
• Genetic counselors.
• Child psychologists.
• Child life specialists.
• Social workers.

There are many treatments for neurofibromatosis in children. Your child’s care team will work with your child and your family to find the best ways to manage their NF1 or NF2 symptoms.

Surgery

Surgery is a common treatment for neurofibromatosis in children. We use surgery to remove tumors that have formed on nerves in your child’s brain, spine and other areas of their body. The type of surgery depends on where the tumor is and how big it is.

Stereotactic radiosurgery

We may recommend Gamma Knife^® surgery for some kids who develop brain tumors or schwannomas from NF1 or NF2. Gamma Knife surgery is a form of stereotactic radiosurgery. It uses highly focused doses of powerful radiation to shrink tumors.

Other treatments

Sometimes, your child may get a combination of chemotherapy, radiation therapy or molecular targeted therapy. This typically happens if surgery isn’t an option, or we need to shrink the tumor before surgery. Depending on your child’s symptoms, other treatments for NF1 and NF2 may include:

• Auditory brainstem implants or cochlear implants.
• Hearing rehabilitation, including hearing aids.
• Pain management.
• Pediatric physical therapy.
• Pediatric occupational therapy.
• Pediatric speech therapy.
• Regular eye exams.
• Regular physical exams.
• Pediatric behavioral therapy.
• Palliative care.

We also make sure your child gets the emotional and mental support they need through counseling, art and music therapy, our Canine Caring program and more. And our social workers are here to help your family navigate this journey, every step of the way.

Follow-Up Care

Just because your child becomes an adult doesn’t mean we end their care. Cleveland Clinic Children’s recognizes that neurofibromatosis is a lifelong condition and needs long-term management. While some symptoms show up early in childhood, others may not appear until your child is a teenager or young adult. As your child grows up, we’ll help them seamlessly transition to our adult neurofibromatosis providers for follow-up care, testing and more.

Taking the Next Step

From the moment your child is diagnosed with neurofibromatosis, you’ll be by their side as they learn to manage this lifelong condition. So will Cleveland Clinic Children’s. We’ll build a highly personalized care plan that takes them through childhood and adolescence to adulthood. One that will keep evolving, thanks to ongoing research and clinical trials focused on improving care for complex genetic diseases like this. Our expert pediatric team is here for your child and your family — with the support, care and treatment they need for life.