How Is Neurofibromatosis Diagnosed?
Neurofibromatosis is diagnosed using a number of tests, including: • Physical examination • Medical history • Family history • X-rays • Computerized tomography (CT) scans • Magnetic resonance imaging (MRI) • Biopsy of neurofibromas • Eye tests • Tests for particular symptoms, such as hearing or balance tests • Genetic testing (available for families with documented cases of NF1 and NF2) To receive a diagnosis of NF1, you must have 2 of the following symptoms: • Six or more café au lait spots that are 1.5 cm or larger in post-pubertal individuals or 0.5 cm or larger in pre-pubertal individuals • Two or more neurofibromas (tumor that develops from the cells and tissues that cover nerves) of any type or one or more plexiform neurofibroma (nerve that has become thick and misshapen due to the abnormal growth of cells and tissues that cover the nerve) • Freckling in the armpit or groin • Optic glioma (tumor of the optic pathway) • Two or more Lisch nodules • A distinctive bony lesion, dyspla
