neurofibromatosis (central) type 2

Epidemiology

• the most common such syndrome with multiple schwannomas

Pathology

• bilateral acoustic neuromas (vestibular schwannomas)
• schwannomas of other cranial & peripheral nerves, meningiomas, & ependymomas
• dermal (peripheral nerve) schwannomas may precede vestibular tumors in affected children
• few neurofibromas
• no Lisch nodules
• tumors are histologically benign; however, their anatomic location makes management difficult, & patients suffer great morbidity & mortality

Genetics

• chromosome 22q12 mutation
• autosomal dominant with full penetrance
• associated with defects in NF2

Clinical manifestations

• affected individuals generally develop symptoms of cranial nerve 8 dysfunction in early adulthood, including deafness & balance disorder
• gradually progressive bilateral hearing loss, tinnitus
• visual changes, bilateral cataracts
• peripheral neuropathy
• few cafe-au-lait spots

Laboratory

PCR/southern blot

Radiology

• MRI evidence of bilateral vestibular schwannomas

More general terms

• neurofibromatosis (von Recklinghausen's disease)

Additional terms

• merlin; moesin-ezrin-radixin-like protein; neurofibromin-2; schwannomin; schwannomerlin (NF2, SCH)
• neurofibromatosis-2 genotyping
• schwannomatosis (congenital cutaneous neurilemmomatosis)

Patient information

neurofibromatosis type-2 patient information

Database

• OMIM: https://mirror.omim.org/entry/101000