How is Neurofibromatosis Diagnosed?
DiagnosisTo confirm a diagnosis of neurofibromatosis, a doctor and a genetic counselor do a comprehensive personal and family medical history review and a thorough neurologic and physical exam.
Tests to diagnose NF1, NF2, or schwannomatosis include:
- Genetic tests. These are done to identify NF1 and NF2 and schwannomatosis mutations. If a parent has neurofibromatosis, genetic testing and counseling can be done during pregnancy.
- Imaging tests. X-rays, CT, or MRIs scans can help identify tumors in the brain, spinal cord, and ears and show bone abnormalities. Imaging tests are also used to monitor changes over time in NF2 and schwannomatosis.
- Eye exam. Eye doctors can assess for Lisch nodules, visual loss, and cataracts.
In addition to imaging and genetic tests, additional tests may be done specifically for each type. Diagnosis of each type of neurofibromatosis includes:
NF1 diagnosis
A diagnosis of NF1 is usually made by age 4. A child should have at least two of the following signs of NF1 for a diagnosis. If a child has one sign and no first-degree relative with NF1, the doctor will monitor the child to see if additional signs are developed. The signs are:
- Family history of NF1
- Six or more café-au-lait spots on the skin
- Freckling under the arms or in the groin area
- Neurofibromas bump on or under the skin
- Swollen areas on or under the skin
- Lisch nodules, pigmented bumps on the eye’s iris
- Skeletal abnormalities, such as scoliosis, bowing of the legs, and thinning of the shin bone
- Tumor on the optic nerve that may interfere with vision
NF2 diagnosis
- Hearing and balance exams include tests that measure hearing (audiometry), eye movements (ENG -electronystagmography), and a brainstem auditory evoked response test to evaluate hearing and balance problems typical to NF2.
Schwannomatosis diagnosis
A diagnosis of schwannomatosis is based on ruling out NF2 and includes:
- A confirmed schwannoma and a first-degree relative (parents or siblings) who have schwannomatosis
- MRI images that do not show vestibular tumors in the ears, as in NF2
- No known NF2 mutation in the genetic test
How is Neurofibromatosis Treated?
TreatmentsThere is no known cure for neurofibromatosis. Many children may not require treatment other than regular evaluation by a specialist to monitor changes. Some people may need medication to reduce pain, surgery to remove tumors, and other treatments for complications.
Medication
- NF1. Selumetinib is used to treat NF1 in children 2 years of age and older who have plexiform neurofibromas — tumors that form in the tissue that covers and protects the nerves — that cannot be removed by surgery.
- Schwannomatosis. Managing pain is an important part of schwannomatosis treatment. Medications to treat pain may include:
- Drugs for nerve pain
- Tricyclic antidepressants
- Serotonin and norepinephrine reuptake inhibitors
- Epilepsy medications
Surgery
- Surgery may be recommended to treat symptoms and complications of neurofibromatosis . Surgery to remove tumors can help relieve symptoms by removing all or part of the tumors in different parts of the body.
- NF1: The surgical removal of painful or disfiguring tumors can relieve discomfort and improve quality of life.
- NF2: Surgery to remove the acoustic tumors may be recommended to patients with NF2 who experience hearing loss, brainstem compression, or tumor growth.
- Schwannomatosis: Surgical removal of schwannomas may help reduce pain.
- Stereotactic radiosurgery. Radiation can be delivered directly to tumors and may be recommended to remove acoustic tumors in people with NF2, which may preserve hearing.
- Auditory brainstem implants and cochlear implants may help improve hearing in patients with NF2 who experience hearing loss.
Cancer treatment
If benign tumors become cancerous (malignant), treatment of the cancerous tumors follows standard cancer care that may include surgery to remove the tumor, chemotherapy, and radiation therapy.
Trust NewYork-Presbyterian for Neurofibromatosis Treatment
NewYork-Presbyterian’s neurofibromatosis clinics provide comprehensive care, support, and guidance for patients and families while evaluating and treating these disorders. Learn more about the symptoms of neurofibromatosis and other pediatric neurological diseases and disorders. Contact us to make an appointment.