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.
MeSH terms
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Adult
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Alternative Splicing / genetics
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Arrhythmias, Cardiac / etiology
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Arrhythmias, Cardiac / physiopathology
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Brain / blood supply
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Brain / pathology
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Brain / physiopathology
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Brain Ischemia / genetics*
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Brain Ischemia / pathology
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Brain Ischemia / physiopathology
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Cerebral Arteries / pathology
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Cerebral Arteries / physiopathology*
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DNA Mutational Analysis
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Diagnosis, Differential
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Disease Progression
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Early Diagnosis
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Fatal Outcome
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Female
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Humans
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Hypotension / etiology
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Hypotension / physiopathology
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Infarction, Middle Cerebral Artery / genetics*
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Infarction, Middle Cerebral Artery / pathology
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Infarction, Middle Cerebral Artery / physiopathology
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Magnetic Resonance Imaging
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Mutation / genetics*
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Neurofibromatosis 1 / complications*
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Neurofibromatosis 1 / genetics*
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Neurofibromatosis 1 / physiopathology
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Neurofibromin 1 / genetics
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RNA Splice Sites / genetics
Substances
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Neurofibromin 1
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RNA Splice Sites