title: Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke.
abstract: Vascular lesions are infrequently recognized as manifestations of neurofibromatosis 1 (NF1), but they can produce serious complications and contribute to mortality at younger ages. Here we report the case of a young female patient with NF1 who suffered from a fatal middle cerebral artery (MCA) infarct. In addition to the MCA infarct, head MRI also disclosed old infarcts at bilateral cerebella and multiple intracranial arterial steno-occlusions. Stroke related to NF1 cerebral vasculopathy was highly suggested after other diseases were excluded. Additionally, genetic analysis of the patient identified a novel mutation at the splicing donor site, c. 2,409+2T>G that resulted in a splicing aberration.
authors.affiliation: Department of Stroke Center, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
authors.forename: Sung-Chun
authors.initials: SC
authors.lastname: Tang
authors.forename: Ming-Jen
authors.initials: MJ
authors.lastname: Lee
authors.forename: Jiann-Shing
authors.initials: JS
authors.lastname: Jeng
authors.forename: Ping-Keung
authors.initials: PK
authors.lastname: Yip
mesh_terms: D000328:Adult; D017398:Alternative Splicing / Q000235:genetics; D001145:Arrhythmias, Cardiac / Q000209:etiology / Q000503:physiopathology; D001921:Brain / Q000098:blood supply / Q000473:pathology / Q000503:physiopathology; D002545:Brain Ischemia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002536:Cerebral Arteries / Q000473:pathology / Q000503:physiopathology*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D018450:Disease Progression; D042241:Early Diagnosis; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007022:Hypotension / Q000209:etiology / Q000503:physiopathology; D020244:Infarction, Middle Cerebral Artery / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D025542:Neurofibromin 1 / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics
chemical_list: D025542:Neurofibromin 1; D022821:RNA Splice Sites