Schwannomatosis

Diagnosis

Schwannomatosis is diagnosed through a combination of personal and family medical history, physical examination, and specialized tests. Diagnosis may focus on identifying NF2-related schwannomatosis (NF2) or SMARCB1- and LZTR1-related schwannomatosis.

Other diagnostic tests may include:

• Eye exam — Can reveal cataracts or other vision changes associated with the condition.

• Hearing and balance exams — Tests may include audiometry to measure hearing, electronystagmography to assess balance via eye movements, and brain stem auditory evoked response to evaluate how sound signals travel from the inner ear to the brain.

• Imaging tests — X-rays, CT scans, and MRIs can identify tumors in the brain or spinal cord, detect bone changes, and monitor tumor growth over time.

• Genetic tests — May help identify NF2 or SMARCB1- and LZTR1-related schwannomatosis, though some cases involve genes that are not yet known. Genetic testing is sometimes considered by those planning to have children.

Treatment

There is no cure for schwannomatosis, but treatment focuses on managing symptoms, reducing tumor-related complications, and preserving quality of life.

Surgery and other procedures
Surgery may be required to treat significant symptoms or complications:

• Tumor removal — Surgical removal of tumors can relieve pain and address complications such as hearing loss or brain stem compression in NF2-related schwannomatosis.

• Stereotactic radiosurgery — Delivers targeted radiation to tumors without conventional surgery, helping preserve hearing while treating acoustic neuromas.

• Auditory brain stem implants and cochlear implants — May improve hearing in people with NF2 who have experienced hearing loss.

Cancer treatment
If schwannomas become malignant, standard cancer treatments such as surgery, chemotherapy, or radiation therapy are used. Early detection and intervention improve outcomes.

Pain management
Managing nerve pain is an important part of treating SMARCB1- and LZTR1-related schwannomatosis. Medicines may include:

• Gabapentin or pregabalin for nerve pain

• Tricyclic antidepressants such as amitriptyline

• Serotonin and norepinephrine reuptake inhibitors such as duloxetine

• Epilepsy medications such as topiramate or carbamazepine

Researchers continue to study medicines that may shrink noncancerous tumors affecting the hearing and balance nerves.

Regular follow-up with a healthcare professional is essential to monitor tumor growth, manage symptoms, and adjust treatment as needed.