Diagnosis and Treatment – Mayo Clinic

by Curavital | Dec 9, 2025 | Healthcare, Parkinsonism

Diagnosis

To diagnose neurofibromatosis type 1 (NF1), a healthcare professional begins with a review of your personal and family medical history and a physical examination.

Your child’s skin will be checked for cafe au lait spots, which can help diagnose NF1.

If other tests are needed to diagnose NF1, your child may need:

Eye examination. An eye exam can reveal Lisch nodules, cataracts and vision loss.
Imaging tests. X-rays, CT scans, or MRIs can help identify bone changes, brain or spinal cord tumors, and very small tumors. An MRI can be used to diagnose optic gliomas.
Genetic tests. Genetic testing for NF1 can help support the diagnosis. Genetic testing can also be done during pregnancy before a baby is born. Ask a member of your health care team about genetic counseling.

For a diagnosis of NF1, there must be at least two symptoms of the condition. A child who has only one symptom and no family history of NF1 will likely be monitored for other symptoms. A diagnosis of NF1 is usually made at the age of 4.

Treatment

There is no cure for neurofibromatosis type 1 (NF1), but symptoms can be managed. In general, the sooner someone is treated by a specialist trained in the treatment of NF1, the better the outcome.

Supervision

If your child has NF1, annual age-appropriate checks are often recommended to:

Check your child’s skin for new neurofibromas or changes in existing ones.
Check for signs of high blood pressure.
Check your child’s growth and development. This includes measuring height, weight and head circumference to compare with growth charts for children who have NF1.
Look for signs of early puberty.
Look for any skeletal changes.
Check your child’s learning development and progress at school.
Get a complete eye exam.

Contact your healthcare team immediately if you notice any changes in symptoms between visits. Many complications of NF1 can be treated effectively if treatment is started early.

Medicine

Selumetinib (Koselugo) is a treatment approved by the US Food and Drug Administration for plexiform neurofibroma in children. The medicine can shrink the size of a tumor. Clinical trials are currently being conducted with similar drugs for children and adults.

Surgery and other procedures

Surgery to remove tumors may be needed to treat severe symptoms or complications of NF1. Symptoms can be relieved by removing all or part of tumors that compress nearby tissues or damage organs.

Cancer treatment

Cancers related to NF1 are treated with standard cancer treatments, such as surgery, chemotherapy, and radiation therapy. Early diagnosis and treatment are the most important factors for a good outcome.

Potential future treatments

Researchers are testing gene therapies for neurofibromatosis type 1 (NF1). Potential new treatments could include replacing the NF1 gene to restore neurofibromin function.

Coping and support

Caring for a child with a condition like neurofibromatosis type 1 (NF1) can be challenging. But many children with NF1 grow up to live healthy lives with few, if any, complications.

To help you cope:

Find a healthcare professional you can trust and who can coordinate your child’s care with other specialists. The Children’s Tumor Foundation has an online tool to help you find a specialist in your area.
Join a support group for parents caring for children who have NF1, ADHD, special needs or lifelong illness.
Accept help with daily needs such as cooking, cleaning or looking after your other children or simply to take a needed break.
Seek academic support for children with learning disabilities.

Preparation for your appointment

You may be referred to a doctor who specializes in brain and nervous system conditions, known as a neurologist.

It is a good idea to be well prepared for your appointment. Here is some information to help you get ready and know what to expect.

What you can do

Write down a list of concerns, to note when you first noticed them.
Bring a complete medical and family history with you if your healthcare professional does not already have it.
Write down important personal information, including major stresses or recent life changes.
Make a list of all medicines, vitamins or supplements that you or your child take.
Bring photos of any family members – alive or dead – who may have had similar symptoms.
Write down questions to ask your healthcare professional.

Your time under your appointment is limited. Making a list of questions can help you make the most of your time. List your questions from most important to least important if time is running out. For neurofibromatosis, some basic questions to ask include:

Do you suspect neurofibromatosis type 1?
What tests do you recommend?
What treatments are available?
How should the condition be monitored for changes?

In addition to the questions you have prepared, do not hesitate to ask any other questions that occur to you.

What you can expect from your doctor

You will probably be asked a series of questions. Being ready to answer them can free up time later to cover other points you want to address. Your healthcare professional may ask: