Journal article
Neurofibromatosis Type 2: Presentation, Major Complications, and Management, with a Focus on the Pediatric Age Group
S Ardern-Holmes, G Fisher, K North
Journal of Child Neurology | SAGE PUBLICATIONS INC | Published : 2017
Abstract
Neurofibromatosis type 2 (NF2) is a rare autosomal dominant disorder (incidence 1:33 000-40 000) characterized by formation of central nervous system tumors, due to mutation in the NF2 gene on chromosome 22q12. Vestibular schwannomas are the hallmark lesion, affecting 95% of individuals and typically occur bilaterally. Schwannomas commonly occur on other nerves intracranially and in the spinal compartment, along with meningiomas, ependymomas, and gliomas. Although histologically benign, tumors are associated with significant morbidity due to multiple problems including hearing and vision loss, gait abnormalities, paralysis, pain, and seizures. Risk of early mortality from brainstem compressi..
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Funding Acknowledgements
The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported by funding from the Children's Tumour Foundation, Australia.