neurofibromatosis (central) type 2

Epidemiology: - the most common such syndrome with multiple schwannomas Pathology: 1) bilateral acoustic neuromas (vestibular schwannomas) 2) schwannomas of other cranial & peripheral nerves, meningiomas, & ependymomas 3) dermal (peripheral nerve) schwannomas may precede vestibular tumors in affected children 4) few neurofibromas 5) no Lisch nodules 6) 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: 1) affected individuals generally develop symptoms of cranial nerve 8 dysfunction in early adulthood, including deafness & balance disorder 2) few cafe-au-lait spots Laboratory: PCR/southern blot

Related

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

Properties

ASSOCIATED-NEOPLASM[S]: meningioma schwannoma schwannoma :QUALITIES bilateral :SITE 8TH_CRANIAL_NERVE glial neoplasm (glioma)