What is involved in the diagnosis of neurofibomatosis?

tests and tests used to confirm the diagnosis of neurofibomatosis vary depending on the type of suspect disorder. For example, neurofibromatosis 1 (NF1) causes physical symptoms obvious to the naked eye, such as the Au Lait stains, while neurofibromatosis 2 (NF2) affects balance and hearing. The rareer schwannomatosis is usually manifested as chronic pain. The examining physician can order eye and ears as well as complete physical tests and imaging tests such as X -rays. Genetic testing can also be required and can be performed in a prenatal stage.

In the diagnosis of NF1, the examining physician usually focuses on the most common physical features of the disease. The patient's skin should be found at least six au lait places and also on the area of ​​the weakness. There may also be at least two press nodes and neurofibromas. Some patients may have bony lesions or optical tumor. Many NF1 patients will also have a first -degree relative with disorder and are steal with sentenceswidth than an average head. There is also prenatal genetic testing for NF1, confirming the presence or absence of NF1 mutation before birth. Further testing usually includes eye tests and displaying, such as X -rays and computer tomographic scanning, which help find bony lesions and tumors.

NF2 is a rare type of this failure and is inherited in approximately half of the cases. It is characterized by tumors on acoustic and vestibular nerve branches. As a result, the patient is likely to have balance problems, ringing in the ears and even hearing loss. Cataracts may also be present. The diagnosis of neurofibomatosis of this type usually includes an ear test or auditory test and a family history of disorder.

The most precious form of this disorder is schwannomatosis.Pacienti with this type usually develop Schwannomas all over or in a particular part of the body, but not on the vestibular nervevu. Chronic pain is a characteristic symptom, although some patients also experience armor and numbness. When confirming the diagnosis of neurofibromatosis of this type, the attending physician will look for schwannomas. Prenatal testing on NF2 is available, but with a degree of accuracy of approximately 65 percent, while there is no genetic testing for schwannomatosis.

Any neurofibromatosis may be difficult for the patient because it is a progressive disorder that usually deteriorates over time. In most cases, NF1 is mild and the patient will have a normal life expectancy. Those with NF2 are likely to experience deteriorating balance and hearing. Surgical options can remove large and malignant tumors and provide some relief. Most patients with neurofibromatosis lead normal lives, which only requires monitoring.