Neurofibromatosis diagnosis - Search
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  2. One or more of these tests may be recommended by your medical provider.
    Diagnosis involves examination of symptoms and detailed information about family history.

    Common tests & procedures

    X-ray: X-ray of bone is taken to detect bone abnormalities or tumors in the brain.

    CT scan: Identify bone abnormalities, tumors in the brain or spinal cord.

    Magnetic resonance imaging (MRI): To detect bone abnormalities, tumors in the brain or spinal cord. MRI provides more details than X-Ray or CT Scan.

    Genetic test: To get the detailed information about NF1 and NF2 genes.

    Biopsy: To check if it is cancerous.

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    Treatment

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    The condition cannot be cured, but symptoms can be reduced with the following treatments. It includes surgery, chemotherapy and radiation to cure or remove cancerous tumors.

    Medication

    Anticonvulsants: Have nerve-calming qualities that help relieve nerve pain.

    Gabapentin . Pregabalin . Topiramate . Carbamazepine

    Tricyclic antidepressants: Help in treating neuropathic pain.

    Amitriptyline

    Serotonin and norepinephrine reuptake inhibitors (SNRIs): Are a class of anti-depressant drugs. Some drugs, however, are used to treat nerve pain.

    Duloxetine . Tramadol

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    Specialist

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    Neurologist : Specializes in treating diseases of the nervous system, which includes the brain, the spinal cord, and the nerves.

    Neuroradiologist : Specializes in the use of radioactive substances, x-rays and scanning devices for the diagnosis and treatment of diseases of the nervous system.

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    Complications

    Verified Expert

    Complications of NF1

    • Neurological Problems
    • Skeletal Problems
    • Vision Problems
    • Cardiovascular Problems
    • Hypertension
    • Short stature
    • Large head
    • Breathing Problems
    • Cancer
    • Benign adrenal gland tumor

    Complications of NF2

    • Partial or total deafness
    • Facial nerve damage
    • Vision problems
    • Small benign skin tumors
    • Weakness or numbness in the extremities
    • Multiple benign tumors or spinal tumors

    Complications of Schwannomatosis

    • Debilitating pain requiring surgical treatment

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  2. Neurofibromatosis - National Institute of Neurological Disorders …

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  20. Neurofibromatosis: Symptoms & Causes | NewYork-Presbyterian

  21. Neurofibromatosis type 1 (NF1): Management and prognosis

  22. Neurofibromatosis type 1 - NHS

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