Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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May 20, 2013
Neurofibromatosis 2 with MISME Syndrome
- Neurofibromatosis 2 (NF2) is a neurocutaenous syndrome inherited in an dominant manner, resulting from a mutation of chromosome 22.
- MISME: Pneumonic for Multiple Inherited Schwannomas Meningiomas and Ependymomas
- Criteria for diagnosis include: Presence of bilateral acoustic schwannomas or first-degree relative with NF2, and either a unilateral acoustic schwannoma or two of the following: meningioma, neurofibroma, schwannoma, glioma, juvenile posterior subcapsular lenticular opacity
- Key Diagnostic Features: Bilateral acoustic schwannomas are diagnostic of NF2. Other tumors include schwannomas involving other nerves, meningiomas, and ependymomas.
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