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Schwannomatosis in a child – or early neurofibromatosis type 2

Published online by Cambridge University Press:  08 March 2006

A. M. Shaida ,
D. G. O’Donovan  and
D. A. Moffat
A. M. Shaida
Affiliation:
Department of Otoneurological and Skull Base Surgery, Addenbrooke’s Hospital, Cambridge, UK.
D. G. O’Donovan
Affiliation:
Department of Otoneurological and Skull Base Surgery, Addenbrooke’s Hospital, Cambridge, UK.
D. A. Moffat
Affiliation:
Department of Otoneurological and Skull Base Surgery, Addenbrooke’s Hospital, Cambridge, UK.
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Abstract

A case of multiple cervical schwannomas in a five-year-old boy, without other evidence of neurofibromatosis type 2, is described. Schwannomatosis is a disorder characterized by the presence of multiple schwannomas in the absence of neurofibromatosis type 2 that has only been recognized in the last 15 years. The clinical and genetic features of neurofibromatosis types 1 and 2 and schwannomatosis are compared and contrasted. This patient with possible schwannomatosis is presented to illustrate the potential pitfalls of making this diagnosis in the paediatric age group and to increase awareness of the debate on whether this is a distinct entity or a form fruste of neurofibromatosis type 2.

Keywords

NeurilemmomaNeurofibromatosis 2Child
Type
Research Article
Information
The Journal of Laryngology & Otology , Volume 116 , Issue 7 , July 2002 , pp. 551 - 555
Copyright
© Royal Society of Medicine Press Limited 2002

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