Neurofibromatosis

Diagnosis

Your doctor will begin by performing a physical examination and reviewing your personal and family medical history.

To identify NF1, your doctor will examine your skin for cafe au lait spots.

Your doctor might suggest the following if more tests are required to diagnose NF1, NF2, or schwannomatosis:

• Eye exam. Lisch nodules, cataracts, and visual impairment can all be found by an eye doctor.
• Hearing and balance tests. A hearing test (audiometry), an examination that records your eye movements with electrodes (electronystagmography), and a test that measures the electrical signals that travel from the inner ear to the brain (brainstem auditory evoked response) can all be used to evaluate hearing and balance issues in NF2 patients.
• Diagnostic imaging. Bone anomalies, brain or spinal cord tumors, and small tumors can all be found using X-rays, CT scans, or MRIs. Optic gliomas could be identified with an MRI. Monitoring for NF2 and schwannomatosis frequently also involves imaging studies.
• Genetic tests. It is possible to perform NF1 and NF2 testing throughout pregnancy, prior to delivery. Inquire about genetic counseling with your doctor. Due to the possibility that schwannomatosis is caused by additional, undiscovered genes, genetic tests may occasionally miss the condition. Before having children, some women opt to have their SMARCB1 and LZTR1 genes tested.

A minimum of two signs of NF1 are required for a diagnosis. If your child just exhibits one sign and there is no family history of NF1, your doctor will probably keep an eye out for the emergence of any new signs. By the age of 4, NF1 is typically diagnosed. The diagnosis may be confirmed through genetic testing.

Treatment

There is currently no known cure for neurofibromatosis, but the signs and symptoms can be managed. The prognosis for individuals with this condition is generally better when they receive care from a healthcare provider experienced in treating neurofibromatosis at an earlier stage.

Monitoring

The following age-appropriate checkups should be recommended by your doctor if your kid has NF1:

• Examine your child’s skin for any changes in or new neurofibromas.
• Observe for high blood pressure signs
• Perform a comprehensive eye test
• Evaluate your child’s academic achievement and growth.
• Note any signs of puberty at an early age
• Look for any changes or abnormalities in your child’s bone.

If your signs or symptoms change between visits, call your doctor right away. If therapy is started as soon as possible, many NF1 problems can be adequately managed.

Medication

The drug selumetinib is used to treat pediatric plexiform neurofibroma. Similar medications are now undergoing pediatric and adult clinical trials.

Surgical intervention and other treatments

To treat neurofibromatosis-related problems or severe symptoms, your doctor may advise surgery or other treatments.

• Tumor removal surgery. Tumors that are compressing neighboring tissue or harming organs can be completely or partially removed to relieve symptoms. Your doctor may advise surgery to remove any problematic acoustic neuromas if you have NF2 and have experienced hearing loss, brainstem compression, or tumor growth. In those with schwannomatosis, complete excision of schwannomas can significantly reduce discomfort.
• Stereotactic radiosurgery. This treatment doesn’t require an incision and properly targets radiation to your tumor. If you have NF2, stereotactic radiosurgery may be an option to eliminate acoustic neuromas. Your hearing may be preserved with stereotactic radiosurgery.
• Auditory brainstem implants and cochlear implants. If you have NF2 and hearing loss, these gadgets might be able to help.

Cancer treatment

Standard cancer therapies, such as surgery, chemotherapy, and radiation therapy, are used to treat malignant tumors and other cancers linked to neurofibromatosis. The key components of a successful outcome are early diagnosis and therapy.

Medications for pain

An essential component of treating schwannomatosis is pain management. Your physician might advise:

• Painkiller medications such pregabalin or gabapentin
• Tricyclic antidepressants such as amitriptyline
• Serotonin and norepinephrine reuptake inhibitors, including duloxetine
• Drugs used to treat epilepsy, such as topiramate or carbamazepine

Potential treatments in the future

Gene therapies for NF1 are being tested by researchers. To restore neurofibromin function, novel treatments may involve replacing the NF1 gene.