Stroke in a child with neurofibromatosis type 2.
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.
Ng
Joanne
J
Department of Paediatric Neurology, Sheffield Children's Hospital, Western Bank, Sheffield, UK. drjoanneng@doctors.org.uk
Mordekar
Santosh R
SR
Connolly
Daniel J A
DJ
Baxter
Peter
P
D000293:Adolescent; D001933:Brain Stem / Q000473:pathology*; D005158:Facial Paralysis / Q000209:etiology / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D016518:Neurofibromatosis 2 / Q000150:complications / Q000235:genetics / Q000473:pathology*; D025581:Neurofibromin 2 / Q000235:genetics; D009759:Nystagmus, Pathologic / Q000209:etiology / Q000473:pathology; D010291:Paresis / Q000209:etiology / Q000473:pathology; D017354:Point Mutation; D020521:Stroke / Q000150:complications / Q000473:pathology*
D025581:Neurofibromin 2