Neurofibromatosis type II

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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W8MD medical weight loss NYC and sleep center NYC

Neurofibromatosis type II
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Hearing loss, tinnitus, balance problems, cataracts, muscle weakness
Complications	Deafness, paralysis, vision loss
Onset	Typically in adolescence or early adulthood
Duration	Chronic
Types	N/A
Causes	Genetic mutation in the NF2 gene
Risks	Family history
Diagnosis	MRI, genetic testing
Differential diagnosis	Neurofibromatosis type I, schwannomatosis
Prevention	N/A
Treatment	Surgery, radiation therapy, auditory brainstem implant
Medication	Bevacizumab
Prognosis	N/A
Frequency	1 in 25,000 to 1 in 40,000
Deaths	Rare, but complications can be serious

Autosomal Dominant Pedigree Chart

Schwannoma - Antoni A and B - very high magnification

Vestibular Schwannoma

Neurofibromatosis type II

Neurofibromatosis type II locus

Neurofibromatosis type II (NF2) is a genetic disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with NF2 are vestibular schwannomas, which grow on the nerves responsible for balance and hearing leading to the inner ear.

Symptoms

The symptoms of NF2 can vary widely among individuals. The most common symptoms include hearing loss, ringing in the ears (tinnitus), and problems with balance. Other symptoms can include weakness or numbness in the arms or legs, pain, and vision problems.

Causes

NF2 is caused by mutations in the NF2 gene, which provides instructions for making a protein called merlin. Merlin acts as a tumor suppressor, which means it regulates cell growth and prevents cells from dividing too rapidly or in an uncontrolled way. Mutations in the NF2 gene lead to the production of an abnormal version of the merlin protein that cannot regulate cell growth and division. As a result, tumors (particularly vestibular schwannomas) develop.

Diagnosis

Diagnosis of NF2 is based on clinical criteria. These include the presence of bilateral vestibular schwannomas, or a first-degree relative with NF2 and either a unilateral vestibular schwannoma or two of the following: meningioma, glioma, schwannoma, or juvenile posterior subcapsular lenticular opacity.

Treatment

Treatment for NF2 varies depending on the size and location of the tumors and the severity of symptoms. Options include surgery, radiation therapy, and medication. Regular monitoring is necessary to track the growth of tumors and manage symptoms.

Prognosis

The prognosis for individuals with NF2 varies. Some people live normal, productive lives, while others may become severely disabled. The severity of the disease can vary even among members of the same family.

See also

• Neurofibromatosis
• Genetic disorder
• Tumor suppressor

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