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Neurofibromatosis (NF) is a neurocutaneous syndrome that can affect many parts of the body, including the brain, spinal cord, nerves, skin, and other body systems. Neurofibromatosis can cause growth of non-cancerous tumors on nerve tissue, producing skin and bone abnormalities.
Effects of neurofibromatosis vary widely – some children live almost unaffected by it; rarely, others can be severely disabled.
There's no specific cure for neurofibromatosis, but tumors usually can be removed and complications treated. Because learning disabilities occur in about half the children with neurofibromatosis, some might need extra help in the classroom.
Our neurofibromatosis clinic is open to any child 0-18 years of age with previously diagnosed neurofibromatosis.
There are two types of neurofibromatosis, NF1 and NF2. Tests like magnetic resonance imaging (MRI) and X-rays may be used to screen for tumors or evidence of skeletal problems typically seen in NF1. A child's head circumference will be measured, as kids with symptoms of NF1 can have a circumference that's larger than normal for their age. Blood pressure will be monitored and doctors also take a detailed personal history, looking for signs of learning difficulties.
To diagnose NF2, doctors will check for any evidence of hearing loss. They'll order audiometry (hearing tests) as well as imaging tests to look for tumors in the nerves of the ears, spinal cord, or brain. They'll also determine if there's a family history of NF2.
Of the two types of neurofibromatosis – NF1 and NF2 – NF1 is more common, occurring in 1 of every 2,500-3,000 births and affecting an estimated 100,000 Americans. It is also known as von Recklinghausen disease.
NF2 is characterized by the presence of bilateral acoustic neurofibroma-like tumors and is rarer, seen in 1 in 25,000 births. People with NF2 usually develop benign tumors on the nerves in their ears, causing hearing loss, eventual deafness, and problems with balance.
Treatment for NF1 includes:
Rarely, neurofibromatosis can become cancerous (3%-5% of cases). In these occurrences, surgery, chemotherapy, or radiation therapy may be necessary.
Because neurofibromatosis can involve different parts of the body, your child's team will likely include specialties from across the Cook Children's system, which may include, but isn't limited to:
Neurofibromatosis clinic patients are typically seen yearly, but some individuals may be seen more often depending on their needs. Neurofibromatosis clinic patients are generally referred to our clinic by one of the specialists listed above and will be scheduled in our comprehensive clinic once a Neurofibromatosis diagnosis is confirmed.
If your child has been diagnosed, you probably have lots of questions. We can help. If you would like to schedule an appointment, refer a patient or speak to our staff, please call our offices at 682-885-2500.