Diagnosis and Management of Neurofibromatosis Type-2

Rate this item
(0 votes)

Abstract

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.

Additional Info

Read 1420 times Last modified on Tuesday, 10 December 2013 12:20

Leave a comment

Make sure you enter the (*) required information where indicated. HTML code is not allowed.

Search

Member Login

          Forgot login? | Register

BBC News Feed

Get in touch

Tel:
+44 207 637 3544

Email:
This email address is being protected from spambots. You need JavaScript enabled to view it.

Address:
The Otorhinolaryngologist,
73 Newman Street, London
W1T 3EJ, 
UK

 

Rila Publications Ltd Ethics Policy