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Log in sign up about these ads encyclopedia (browse by topic or system) add article patient cases (browse by topic or system) add case quiz mode (diagnose from case presentations) this site is targeted at medical and radiology professionals, contains user contributed content, and material that may be confusing to a lay audience. Use of this site implies acceptance of our terms of use. Edit article neurofibromatosis type 2 dr jeremy jones and dr james g. Smirniotopoulos (md) et al. View revision history neurofibromatosis type 2â (nf2) is a rare autosomal dominant neurocutaneous disorder (phakomatosis) manifesting as development of multiple cns tumours 1,2. Unlikeâ neurofibromatosis type 1 (nf1), it is not associated with neurofibromas. â  instead, patients with this disease have: intracranial schwannoma(s) : mostly vestibular schwannoma(s) intracranial and spinal meningioma(s)â  intraspinal-intramedullary ependymoma(s). â  these features suggest the mnemonicâ mismeâ which describes multiple inherited schwannomas meningiomas and ependymomas. â  there can also be associated syringohydromyelia with lesions in the spine 1 as well as cataracts 3. â  epidemiology the disease is rare with an estimated prevalence of 1:50000. buy viagra cheap viagra viagra without a doctor prescription buy cheap viagra buy viagra online cheap viagra online viagra for sale buy cheap viagra buy generic viagra buy viagra online overnight shipping The neoplasms usually develop in adult patients - but the predisposition is inherited via a mutational loss of a tumor supressor gene on the long arm of chromosome 22. â  this gene codes for a protein "schwannomin" - also called "merlin". Although meningiomas areâ oftenâ an isolated findings in adults, their presence in a child should raise suspicion regarding nf2. The presence of mulitple and diffrent types spinal tumours also raise high suspicionâ of nf2â 1 radiographic featuresâ  please refer articles on individual lesions â for respective specific imaging features. Meningioma schwannoma ependymoma references 1. Mautner vf, tatagiba m, lindenau m et-al. Spinal tumors in patients with neurofibromatosis type 2: mr imaging study of frequency, multiplicity, and variety. Ajr am j roentgenol. 1995;165 (4): 951-5. Ajr am j roentgenol (abstract) - pubmed citation 2. Evans dg, sainio m, baser me. Neurofibromatosis type 2. J. Med. Genet. 2000;37 (12): 897-904. J. Med. Genet. (link) - free text at pubmed - pubmed citation 3. Patronas nj, courcoutsakis n, bromley cm et-al. Intramedullary and spinal canal tumors in patie. ©2004 - 2017 kateelizabethdesign.com. All rights reserved. Powered by Shoppe Pro.