Neurofibromatosis type 2 (NF2) is an autosomal dominant heritable neoplasia syndrome. It is a genetic disorder that leads to development of tumors at any site of the nervous system ie the brain spinal cord and nerves. There are three types of neurofibromatosis: neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2) and schwannomatosis. NF1 is usually diagnosed in childhood, while NF2 and schwannomatosis are usually diagnosed in early adulthood.
What does Neurofibromatosis have to do with Speech and hearing????
These tumors can cause hearing loss, learning impairment, heart and blood vessel (cardiovascular) problems, loss of vision, and severe pain.
According to Evans et al , NF has an incidence of 1 in 25,000 persons and a penetrance of nearly 100% by age 60 years.
Evans et al , reported that One of the hallmark clinical manifestation of NF2 is the development of bilateral cochleovestibular schwannomas (CVSs). CVSs are benign tumors but are responsible for hearing loss in both ears. The hearing loss is caused due to direct compression and stretching of the cochlear nerve by the tumour.
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