Neurofibromatosis type 2 (NF2) is a rare autosomal dominant neurocutaneous disorder (phakomatosis) manifesting as development of multiple CNS tumours 1-2. Unlike neurofibromatosis type 1 (NF1), it is not associated with neurofibromas. Instead, patients with this disease have:
- intracranial schwannoma(s) - mostly vestibular schwannoma(s)
- intracranial and spinal meningioma(s)
- intraspinal-intramedullary ependymoma(s).
These features suggest the mnemonic MISME which describes Multiple Inherited Schwannomas Meningiomas and Ependymomas 4. In fact, labeling this disorder neurofibromatosis type 2 is a misnomer, because neurofibromas are not a part of its constellation of abnormalities.5
There can also be associated syringohydromyelia with lesions in the spine 1 as well as cataracts 3.
The disease is rare with an estimated prevalence of 1:50000.
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. This gene codes for a protein pNF2 or "schwannomin" - also called "merlin".
Although meningiomas are often 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 suspicion of NF2 1
Please refer articles on individual lesions for respective specific imaging features.
- 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 patients with neurofibromatosis 2: MR imaging findings and correlation with genotype. Radiology. 2001;218 (2): 434-42. Radiology (full text) - Pubmed citation
- 4. Smirniotopoulos JG, Murphy FM. The phakomatoses. AJNR Am J Neuroradiol. 13 (2): 725-46. AJNR Am J Neuroradiol (citation) - Pubmed citation
- 5. Haaga JR, Boll D. CT and MRI of the whole body. Mosby. (2009) ISBN:0323053750. Read it at Google Books - Find it at Amazon
Synonyms & Alternative Spellings
|Synonyms or Alternative Spelling||Include in Listings?|
|MISME (Neurofibromatosis) Type 2||✗|
|MISME Neurofibromatosis Type 2||✗|
|Neurofibromatosis type II||✗|
|NF type 2||✗|