Neurofibromatosis type 2 is an autosomal dominant genetic disease that stems from mutations in the NF2 gene located on chromosome 22. The hallmark of this condition is a predisposition to various tumors of the nervous system and the skin, with symptoms usually starting in adolescence and early adulthood. Bilateral schwannomas of vestibular nerves producing bilateral hearing loss are a highly specific finding, whereas meningiomas and ependymomas of the spine, neuropathies, and ocular disturbances from cataracts or retinal hamartomas are other typical features. The diagnosis rests on clinical criteria and genetic studies.
The clinical presentation of neurofibromatosis type 2 is comprised of several crucial elements      :
The diagnostic workup of patients must include a thorough patient history and a detailed physical examination. The physician should obtain as much information as possible regarding the onset of complaints, their progression, as well as severity, while a complete neurological and skin examination is crucial for raising clinical suspicion  . The findings of bilateral hearing loss in adolescence with cutaneous lesions and neuropathy can be sufficient to make a presumptive diagnosis based on clinical grounds. Despite the fact that autosomal dominant pattern of inheritance is established (meaning that a proper family history is of great benefit) , up to 50% of cases develop de novo mutations  . For this reason, the presence of a bilateral vestibular schwannoma (regardless of the family history) is considered to be the main criteria for neurofibromatosis type 2  . Alternatively, a clinical diagnosis is reached when unilateral vestibular tumors or two lesions typically associated with this condition are supported by either a positive family history or the appearance of multiple meningiomas  . To confirm central nervous system tumors, magnetic resonance imaging (MRI) is the cornerstone and high-resolution T1 weighted, contrast-enhanced images are optimal for visualizing vestibular schwannomas . By using mutational analysis of the NF2 gene located on chromosome 22, genetic studies can be employed to make a definitive diagnosis .