Stroke in a child with neurofibromatosis type 2

Joanne Ng; Santosh R Mordekar; Daniel J A Connolly; Peter Baxter

doi:10.1016/j.ejpn.2008.02.007

Stroke in a child with neurofibromatosis type 2

Eur J Paediatr Neurol. 2009 Jan;13(1):77-9. doi: 10.1016/j.ejpn.2008.02.007. Epub 2008 Apr 11.

Authors

Joanne Ng¹, Santosh R Mordekar, Daniel J A Connolly, Peter Baxter

Affiliation

¹ Department of Paediatric Neurology, Sheffield Children's Hospital, Western Bank, Sheffield, UK. drjoanneng@doctors.org.uk

PMID: 18406647
DOI: 10.1016/j.ejpn.2008.02.007

Abstract

Neurofibromatosis types 1 (NF1) and 2 (NF2) are genetically distinct conditions caused by mutations in tumour suppressor genes that share a number of phenotypic features. Childhood stroke and vasculopathy have been associated with NF1, but not with NF2. We describe a case of brainstem stroke in a child with NF2.

Publication types

Case Reports

MeSH terms

Adolescent
Brain Stem / pathology*
Facial Paralysis / etiology
Facial Paralysis / pathology
Humans
Magnetic Resonance Imaging / methods
Male
Neurofibromatosis 2 / complications
Neurofibromatosis 2 / genetics
Neurofibromatosis 2 / pathology*
Neurofibromin 2 / genetics
Nystagmus, Pathologic / etiology
Nystagmus, Pathologic / pathology
Paresis / etiology
Paresis / pathology
Point Mutation
Stroke / complications
Stroke / pathology*

Substances

Neurofibromin 2