Neurofibromatosis type 1 is a genetic disorder that causes tumors to form on your child's nerve tissue. These tumors can develop anywhere in the nervous system, including the brain, spinal cord and nerves.
The tumors are usually not cancer, and your child's symptoms might be mild. However, it is extremely important to bring your child to a physician to monitor them for complications that can develop as they grow, including hearing loss, learning impairment, heart and blood vessel problems, loss of vision and severe pain.
Neurofibromatosis occurs in about one in 3000 people. Around half of children with neurofibromatosis inherited it from a parent. The other half has it due to a new genetic change.
Shriners Children's physicians have experience helping children with neurofibromatosis. Diagnosing the condition starts with a detailed review of your child's medical and family history. Genetic testing may help pinpoint the issue and assist other family members who may be affected.
Our physicians typically see neurofibromatosis in children ages 3 to 16, though more severe cases often arise in infants. We focus on treating kids with neurofibromatosis by encouraging healthy growth and development early on and managing complications should they appear.
Specific treatments and services may vary by location. Please contact a specific location for more information.
Neurofibromatosis is caused by a genetic mutation that is either passed on by a parent or occurs at conception.
Approximately 50% of children with neurofibromatosis inherited an altered copy of the nf1 gene from a parent who also has neurofibromatosis. In the remaining 50% of children, neurofibromatosis came from the development of a new mutation in the nf1 gene in the father’s sperm, mother’s eggs or in a cell of the developing baby. In these cases, the child will be the first one in their family to carry this genetic change.
People who carry an altered nf1 gene in their cells have a 1-in-2 chance of passing the condition on to their children. Kids who inherit the altered gene copy will have neurofibromatosis and will be at risk of developing complications.
The most common signs and symptoms of neurofibromatosis include:
The most common treatment options for neurofibromatosis include:
Neurofibromatosis complications can vary widely, even within the same family. Generally, problems come from tumors that affect nerve tissue or press on organs.
Complications children experience may include:
Almost all children with neurofibromatosis eventually develop neurofibromas. These non-cancerous tumors form along nerves on the skin, or elsewhere in the body. Shriners Children's skilled surgeons may opt to remove these tumors.
In some cases, however, the tumors and those called “plexiform neurofibromas” may behave like cancers. Up to 10% of people with neurofibromatosis may develop cancerous neurofibromas, also called malignant peripheral nerve sheath tumors.
Brain tumors are the second most common tumor that occurs with neurofibromatosis. Most occur along the optic pathway, though do not affect vision. They typically occur before your child turns 6.
Approximately half of children with neurofibromatosis have a learning issue that can affect their performance in school. Many children with neurofibromatosis have memory, attention or fine motor skill impairments. Children with developmental delays or who are struggling in school should be evaluated for learning issues.
If your child has a learning disability, one of the most important things to do is get early intervention. A Shriners Children's social worker can help you work with your child’s school. If your child isn’t in school yet, you can help your child get started on the right foot.
Your Shriners Children's physician may recommend that your child have genetic testing to confirm on a molecular level that they have neurofibromatosis.
Neurofibromatosis genetic test results also can provide important information for other family members. If a mutation responsible for neurofibromatosis is identified, relatives can be tested for the same change.
Almost half the children born with tibial pseudarthrosis, a condition in which the tibia bone of the leg breaks repeatedly, have neurofibromatosis. In these situations, your child might also have a limb deformity or length discrepancy. Our skilled physicians will work with you and the rest of our in-house team to provide compassionate care aimed at giving your child the best possible future.
The people at Shriners Children's are amazing. Every single nurse and doctor I have encountered is a really good person. It's such a kind environment.
