Neurofibromatosis

Medical Tests & Diagnosis Methods/Tools

A diagnosis of Neurofibromatosis is done based on family history, physical examination and Magnetic Resonance Imaging (MRI).

Physical Examination:

• Appearance of six or more tan or dark colored spots with hyperpigmentation (café au lait spots) usually at 2 years of age and the number increasing over time is a symptomatic cum diagnostic sign of the disease.

• Freckling of skin not exposed to sunlight such as armpit (axilla) and the groin.

• Buttonholing or cutaneous tumors caused by NF often can be pressed into the skin manually, leaving a vacant space under the skin that may remain for some time.

• An ophthalmologist can detect Lisch nodules or benign lesions on the iris caused due to optic glioma with the help of a slit-lamp microscope.

Magnetic Resonance Imaging (MRI Scan)

An MRI scan of the brain and spine can help detect tumors caused by Neurofibromatosis such as optic gliomas, vestibulocochlear nerve tumors, tumors of the spinal canal and Schwannomas. Multiple Schwannomas are detected with the help of high quality MRI and rule out type 2 NF.

Audiometry tests are helpful in detecting tumors of vestibulocochlear nerve by evaluating hearing to determine nerve function and detect tumor changes such as growth of tumor (10).

Article by Kona Vishnu, MS
Medical Writer,
OmniMedicalSearch.com

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