Bilateral Vestibular Schwannoma In Nf2: Case Report And Review Of Literature

Résumé

Neurofibromatosis type 2 is a rare autosomal dominant disorder characterized by the development of multiple meningiomas and schwannomas.  This is due to mutations on chromosome 22q12.2 which results in the inactivation of merlin, a tumor suppressor gene. The hallmark of NF2 is bilateral vestibular schwannomas which is extremely rare and occurs in only about 5% of patients with NF2.  Majority of patients present with hearing loss while nausea, vomiting and vertigo are more evident in late stage disease. Management options include observation with serial imaging, surgery and stereotactic radiosurgery. However, none of these modalities have shown improvement in hearing in the presence of severe sensorineural hearing loss. Current studies are looking into the use of bevacizumab which has been shown to be effective in suppressing tumor growth and improving hearing. In this report, we look at a case of a young male presenting with severe sensorineural hearing loss and subsequent bilateral vestibular schwannomas on MRI.