Neurofibromatosis type 2-related schwannomatosis (NF2-SWN) is characterized by bilateral vestibular schwannomas in addition to meningiomas, gliomas, ependymomas, other schwannomas, cataracts, and characteristic skin findings.1 This disorder, previously called neurofibromatosis type 2 or central neurofibromatosis, was first documented in 1822 by the Scottish surgeon Wishart, who detailed a case of bilateral acoustic tumors and multiple meningeal tumors. While over the past 200 years there have been multiple reports of a disease characterized by acoustic tumors with meningiomas and skin lesions, NF2-SWN was only defined as an entity distinct from NF1 in the 1980s.1 The gene variants responsible for these diseases were mapped to separate chromosomes in 1987: Neurofibromatosis type 1 (NF1) is associated with variants in 17q11.2 and the NF2-SWN is associated with variants in 22q.12.2.

The pooled global incidence of NF2-SWN is approximately 1 in every 50,000 births, with a reported incidence between 1:32,829 and 1:65,019 births in individual population studies. The prevalence is about 1 in 60,000 people as reported in a UK-based population study.2 Few population studies evaluating NF2-SWN have been performed outside of Europe, and more research on the incidence and prevalence of this disorder in other areas of the world is needed.3