Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke
Journal
Journal of the Neurological Sciences
Journal Volume
243
Journal Issue
44198
Pages
53-55
Date Issued
2006
Author(s)
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. 2409 + 2T > G that resulted in a splicing aberration. ? 2005 Elsevier B.V. All rights reserved.
SDGs
Other Subjects
adult; anamnesis; artery occlusion; article; case report; cerebellum; cerebral artery disease; cerebrovascular accident; cerebrovascular disease; clinical feature; donor site; echography; female; gene mutation; genetic analysis; human; laboratory test; neurofibromatosis; nuclear magnetic resonance imaging; priority journal; protein processing; Adult; Alternative Splicing; Arrhythmia; Brain; Brain Ischemia; Cerebral Arteries; Diagnosis, Differential; Disease Progression; DNA Mutational Analysis; Early Diagnosis; Fatal Outcome; Female; Humans; Hypotension; Infarction, Middle Cerebral Artery; Magnetic Resonance Imaging; Mutation; Neurofibromatosis 1; Neurofibromin 1; RNA Splice Sites
Type
journal article