Neurofibromatosis Type 2

This less common of the neurofibromatoses affects about 1 in 25,000 persons. Neurofibromatosis type 2-related Schwannomatosis (Neurofibromatosis Type 2 -related Schwannomatosis) is characterized by bilateral (occurring on both sides of the body) tumours on the vestibular nerve (responsible for balance), another branch of the eighth cranial nerve near the auditory nerve ( which carries sound information from the inner ear to the brain). The tumours, called vestibular schwannomas for their location and for the type of cells in them, cause pressure damage to neighbouring nerves and leads to tinnitus (ringing in the ears) progressive hearing loss, balance issues and facial nerve effects (by compression). In some cases, the damage to nearby vital structures, such as other cranial nerves, the brainstem and spine and can be life-threatening. Neurofibromatosis Type 2 related cataracts may occur independent of tumour growth, when the mutated Neurofibromatosis Type 2 gene which produces a protein called merlin ( which helps regulate cell growth, structure, stability) doesn’t work properly and causes overgrowth, abnormal protein formation and early degeneration) and leads to cataract formation, often in early childhood or adolescence. Cataracts at a young age is a primary Neurofibromatosis Type 2 feature not caused by tumours and can be a diagnostic clue.

WHAT ARE THE SIGNS AND SYMPTOMS OF NEUROFIBROMATOSIS TYPE 2- Related Schwannomatosis (Neurofibromatosis Type 2- Related schwanomatosis)?

To determine if an individual has Neurofibromatosis Type 2, a physician looks for the following:

1. Bilateral eighth nerve tumors,
2. A parent, sibling, or child with Neurofibromatosis Type 2 and a unilateral eighth nerve tumor, or
3. A parent, sibling, or child with Neurofibromatosis Type 2 and any two of the following:

When do symptoms appear?

Affected individuals may notice hearing loss as early as the teen years. In addition to changes in hearing that may occur in one or both ears, other early symptoms may include tinnitus (ringing noise in the ear) and poor balance. Headache, facial pain, or facial numbness, caused by pressure from the tumors, may also occur.

HOW IS NEUROFIBROMATOSIS TYPE 2 – Related schwannomatosis TREATED?

Treatments for Neurofibromatosis Type 2 are aimed at controlling the symptoms. Improved diagnostic technologies, such as MRI (magnetic resonance imaging), can reveal tumors as small as a few millimeters in diameter, thus allowing early treatment. Surgery to remove tumors completely is one option, but may result in hearing loss. Other options include partial removal of tumors, radiation, and, if the tumors are not progressing rapidly, the conservative approach of watchful waiting.