When Your Child Has Neurofibromatosis Type 1 (NF1)
Neurofibromatosis type 1 (NF1) is a condition that involves the abnormal growth of pigment cells in the skin and of nerve cells in the body. NF1 is usually not life-threatening. However, complications, such as seizures, developmental delay, or increased risk of tumors, can happen over time. Your child’s healthcare provider will tell you more about your child’s condition and treatment choices for your child.
What causes NF1?
NF1 is caused by an abnormality (mutation) in genes that affect nerve growth. This mutation can happen by chance. It can also be passed down in families. If a diagnosis is confirmed, parents and siblings should be evaluated for the condition as well.
What are the symptoms of NF1?
Symptoms for NF1 include:
Skin lesions, such as light-brown (called café-au-lait) spots or freckling in the underarms and groin. These skin lesions are not harmful to health. But they may cause a child to feel self-conscious.
Tumors on or under the skin that form along certain nerves, especially the optic (eye) nerve or spinal nerves. Tumors can also form in the brain and other body areas. The tumors are usually benign (noncancerous). But, in certain locations, tumors can cause serious complications that need treatment.
Problems with bone development, especially along the spine. This may cause scoliosis.
Neurologic problems such as headaches or seizures. Developmental delay may also happen including problems with learning, reasoning, or behavior.
Many symptoms are not present in the early years, but will arise by the age of 10. Therefore, it often takes several years to make the diagnosis of NF1.
How is NF1 diagnosed?
Your child will likely see a pediatric neurologist for diagnosis and treatment. This is a healthcare provider who specializes in neurologic problems. If NF1 is suspected, the following may be done:
Neurologic exam to check how well your child’s nervous system is working. During the exam, the healthcare provider checks your child’s muscle strength, balance, coordination, and reflexes. He or she also checks skills, such as memory, vision, hearing, talking, and swallowing. In addition, the healthcare provider checks for any skin lesions or tumors.
Health history to learn more about your child’s symptoms, other health problems, and family medical history.
Imaging tests to check for possible tumors and pinpoint their locations.
Genetic tests to check for the mutation.
To diagnose NF1, a healthcare provider looks for two or more of the following:
Six or more light brown spots on the skin (often called “café-au-lait” spots), measuring more than 5 millimeters in diameter in children or more than 15 millimeters across in adolescents and adults
Two or more neurofibromas, or one plexiform neurofibroma (a neurofibroma that involves many nerves)
Freckling in the area of the armpit or the groin
Two or more growths on the iris of the eye (known as Lisch nodules or iris hamartomas)
A tumor on the optic nerve (called an optic nerve glioma)
Abnormal development of the spine (scoliosis), the temple (sphenoid) bone of the skull, or the tibia (one of the long bones of the shin)
A parent, sibling, or child with NF1.
How is NF1 treated?
Treatment for NF1 varies depending on your child’s needs. Possible treatments include:
Surgery to remove any tumors or correct any skin lesions. In rare cases, tumors become malignant (cancerous). If this happens, other treatments, such as chemotherapy or radiation, may be needed.
Medicines to control other health problems, such as headaches or seizures.
Special educational services to help with any learning problems.
Supportive care, such as speech, physical, or occupational therapy.
What are the long-term concerns?
NF1 is a lifelong condition. But your child can learn ways to manage symptoms and be as active and independent as possible. Regular visits to the healthcare provider are recommended to check your child’s health and to perform routine testing.
Coping with your child’s condition
A positive outlook helps while supporting your child. Encourage your child to be active and to try new things. Consider counseling, which can help you and your child deal with any worries or concerns. And seek help from your friends, community resources, and support groups. The more you learn about your child’s condition and its treatments, the more in control you may feel. For more information about neurofibromatosis, start by contacting the following organizations:
Children’s Tumor Foundation, www.ctf.org
Neurofibromatosis Inc., www.nfinc.org