Neurofibromatosis type 2 (NF2) is an autosomal dominant condition caused by mutations in the NF2 gene on chromosome 22. 50-60% of patients represent de novo mutations and as many as 33% of these are mosaic for the underlying disease causing mutation.
Affected individuals develop schwannomas typically involving both vestibular nerves leading to hearing loss and eventual deafness. Schwannomas also occur on other cranial nerves, on spinal nerve roots and peripheral nerves and intracutaneously as plaques. Cranial and spinal meningiomas and spinal ependymomas are other common tumours.
The fundamental aim of management should be to maintain function and therefore quality of life whilst managing the tumour load. Management of NF2 presents a difficult problem with most patients facing substantial morbidity and reduced life expectancy.