Stroke in a child with neurofibromatosis type 2

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 strok...

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Veröffentlicht in:	European journal of paediatric neurology 2009-01, Vol.13 (1), p.77-79
Hauptverfasser:	Ng, Joanne, Mordekar, Santosh R, Connolly, Daniel J.A, Baxter, Peter
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Brain Stem - pathology Facial Paralysis - etiology Facial Paralysis - pathology Humans Magnetic Resonance Imaging - methods Male Moya–moya disease Neurofibromatosis 2 - complications Neurofibromatosis 2 - genetics Neurofibromatosis 2 - pathology Neurofibromatosis type 1 Neurofibromatosis type 2 Neurofibromin 2 - genetics Neurology Nystagmus, Pathologic - etiology Nystagmus, Pathologic - pathology Paresis - etiology Paresis - pathology Pediatrics Point Mutation Stroke Stroke - complications Stroke - pathology Vasculopathy
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Zusammenfassung:	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.
ISSN:	1090-3798 1532-2130
DOI:	10.1016/j.ejpn.2008.02.007