Neurofibromatosis Type II (NF2)

Neurofibromatosis Type II (NF2) is a genetic disorder that primarily affects the nervous system, especially the nerves responsible for hearing and balance. It causes the growth of benign tumors called schwannomas, most commonly on the vestibulocochlear nerve, which can lead to hearing loss, tinnitus, and balance problems. People with NF2 may also develop other tumors on the brain and spinal cord, which can cause various neurological symptoms. The condition is inherited in an autosomal dominant pattern, meaning it can be passed from parent to child. Early symptoms often involve changes in hearing or balance, but the disease can affect multiple parts of the nervous system over time.

Neurofibromatosis Type II (NF2) is a hereditary tumor predisposition syndrome caused by mutations in the NF2 gene, which encodes the tumor suppressor protein merlin. Loss of merlin function leads to uncontrolled proliferation of Schwann cells, resulting in multiple bilateral vestibular schwannomas and other central nervous system tumors such as meningiomas and ependymomas. The hallmark of NF2 is the development of bilateral vestibular schwannomas, which cause progressive sensorineural hearing loss, tinnitus, and balance dysfunction. Additional features include spinal schwannomas, meningiomas, and cataracts. The disease typically presents in adolescence or early adulthood and is inherited in an autosomal dominant manner with high penetrance. NF2 is clinically significant due to its impact on hearing, neurological function, and potential for life-threatening complications from tumor growth.