Snapshot A 23-year-old man presents to the emergency department for worsening hearing loss and headaches. Medical history is otherwise noncontributory. Family history is notable for his mother having a meningioma and progressive hearing loss. Physical examination is notable for papilledema and bilateral sensorineural hearing loss. An MRI brain with and without contrast demonstrates bilateral enhancing lesions by the internal acoustic meatus and an extra-axial mass arising from the dura. Introduction Overview a genetic disorder characterized by bilateral vestibular schwannomas meningiomas ependymomas juvenile cataracts Epidemiology Risk factors family history ETIOLOGY Pathophysiology neurofibromatosis type 2 gene encodes merlin (also known as schwannomin), a tumor suppressor loss of merlin leads to abnormal cellular growth and proliferation Genetics autosomal dominant mutation in the neurofibromatosis type 2 gene on chromosome 22 Presentation Symptoms hearing loss tinnitus vertigo issues with balance Physical exam sensorineural hearing loss Imaging MRI of brain and spine with and without gadolinium indication imaging study of choice findings bilateral vestibular schwannoma meningioma spina ependymoma Studies Genetic testing indication confirms the diagnosis Differential Neurofibromatosis type 1 differentiating factors many café-au-lait macules freckling in axillary or inguinal areas iris hamartomas (Lisch nodules) neurofibromas Treatment Surgical resection indication preferred treatment option for resection of the vestibular schwannoma radiation therapy is an alternative; however, there is a risk of malignancy transformation or development of a new primary tumor Complications Hearing loss Seizures and brainstem compression Cataracts Peripheral neuropathy