MJ Smith, A Kulkarni, and C Rustad equally contributed to this work.
Version of Record online: 21 NOV 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 1, pages 215–219, January 2012
How to Cite
Smith, M. J., Kulkarni, A., Rustad, C., Bowers, N. L., Wallace, A. J., Holder, S. E., Heiberg, A., Ramsden, R. T. and Evans, D. G. (2012), Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis. Am. J. Med. Genet., 158A: 215–219. doi: 10.1002/ajmg.a.34376
How to Cite this Article: Smith MJ, Kulkarni A, Rustad C, Bowers NL, Wallace AJ, Holder SE, Heiberg A, Ramsden RT, Evans DG. 2012. Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis. Am J Med Genet Part A 158A:215–219.
- Issue online: 19 DEC 2011
- Version of Record online: 21 NOV 2011
- Manuscript Accepted: 17 OCT 2011
- Manuscript Received: 17 DEC 2010
- NIHR Manchester Biomedical Research Centre
- vestibular schwannoma;
- diagnostic criteria
Schwannomatosis is a recently delineated inherited condition that has clinical overlap with neurofibromatosis type 2 (NF2). Diagnostic criteria have been developed to distinguish schwannomatosis from NF2, but the existence of mosaic NF2, which may closely mimic schwannomatosis, makes even these criteria problematic. In particular, it is not clear why there is a relative sparing of the cranial nerves from schwannomas in schwannomatosis. We have identified two individuals with schwannomatosis and a unilateral vestibular schwannoma (VS), where a diagnosis of NF2 has been excluded. A third case with an identified SMARCB1 mutation was reported by two radiologists to have a VS, but this was later confirmed as a jugular schwannoma. These cases question whether the current exclusion of a VS from the clinical diagnosis of schwannomatosis is justified. © 2011 Wiley Periodicals, Inc.