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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) gradually progressive bilateral hearing loss, tinnitus
3) visual changes, bilateral cataracts
4) peripheral neuropathy
5) few cafe-au-lait spots
Laboratory: PCR/southern blot
Radiology:
- MRI evidence of bilateral vestibular schwannomas
Related
merlin; moesin-ezrin-radixin-like protein; neurofibromin-2; schwannomin; schwannomerlin (NF2, SCH)
neurofibromatosis-2 genotyping
schwannomatosis (congenital cutaneous neurilemmomatosis)
General
neurofibromatosis (von Recklinghausen's disease)
Properties
ASSOCIATED-NEOPLASM[S]: meningioma
schwannoma
schwannoma
:QUALITIES bilateral
:SITE 8TH_CRANIAL_NERVE
glial neoplasm (glioma)
Database Correlations
OMIM 101000
References
- Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed)
Lippincott-Raven, Philadelphia, 1998, pg 175
- UniProt :accession P35240
- Medical Knowledge Self Assessment Program (MKSAP) 20
American College of Physicians, Philadelphia 2025
- Coy S, Rashid R, Stemmer-Rachamimov A, et al.
An update on the CNS manifestations of neurofibromatosis type 2.
Acta Neuropathol. 2020;139:643-665.
PMID: 31161239