How Is Neurofibromatosis Diagnosed?


Quick Answer

To diagnose neurofibromatosis, the condition associated with neurofibromas, a doctor may perform an eye exam, an ear exam and imaging tests such as CT scans and X-rays, as stated by Mayo Clinic. The doctor also looks at the patient's symptoms, personal medical history and family history.

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The doctor may shine a special light on the skin to check for characteristic spots to diagnose neurofibromatosis 1, and he may check for abnormal hearing as well as small bumps on the iris when diagnosing neurofibromatosis 2, according to Mayo Clinic. Balance and hearing tests may include brainstem auditory evoked response, electronystagmography and audiometry. Although imaging tests are not required for a neurofibromatosis diagnosis, MRIs can reveal optic pathway gliomas in the eye, while other tests can assist in the identification of brain and spinal cord tumors. For parents attempting to diagnose neurofibromatosis in the fetus, prenatal genetic tests are available for both types of the condition.

When diagnosing neurofibromatosis, the doctor also takes an inventory of the patient's symptoms, as confirmed by Mayo Clinic. In neurofibromatosis 1, symptoms may include soft bumps under the skin, small bumps on the iris, freckling, light-colored brown spots on the skin, bone deformities and an abnormally large head size. Symptoms of neurofibromatosis 2 may include hearing loss, difficulty balancing and ringing in the ears.

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