title: Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.
abstract: Noonan syndrome is a common autosomal dominant neurodevelopmental disorder caused by gain-of-function germline mutations affecting components of the Ras-MAPK pathway. The authors present the case of a 6-year-old male with Noonan syndrome, Chiari malformation type I, shunted benign external hydrocephalus in infancy, and unique cerebrovascular changes. A de novo heterozygous change in the RAF1 gene was identified. The patient underwent brain magnetic resonance imaging, computed tomography angiography, and magnetic resonance angiography to further clarify the nature of his abnormal brain vasculature. The authors compared his findings to the few cases of Noonan syndrome reported with cerebrovascular pathology.
authors.affiliation: Section of Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR, USA yazarate@uams.edu.
authors.forename: Yuri A
authors.initials: YA
authors.lastname: Zarate
authors.affiliation: Greenwood Genetic Center, Greenwood, SC, USA.
authors.forename: Angie W
authors.initials: AW
authors.lastname: Lichty
authors.affiliation: Greenwood Genetic Center, Greenwood, SC, USA.
authors.forename: Kristen J
authors.initials: KJ
authors.lastname: Champion
authors.affiliation: Greenwood Genetic Center, Greenwood, SC, USA.
authors.forename: L Kate
authors.initials: LK
authors.lastname: Clarkson
authors.affiliation: Greenwood Genetic Center, Greenwood, SC, USA Medical University of South Carolina, Charleston, SC, USA.
authors.forename: Kenton R
authors.initials: KR
authors.lastname: Holden
authors.affiliation: Medical University of South Carolina, Charleston, SC, USA.
authors.forename: M Gisele
authors.initials: MG
authors.lastname: Matheus
mesh_terms: D001921:Brain / Q000473:pathology; D002561:Cerebrovascular Disorders / Q000209:etiology* / Q000235:genetics; D002648:Child; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D009634:Noonan Syndrome / Q000150:complications* / Q000235:genetics*; D015898:Tomography Scanners, X-Ray Computed; D048490:raf Kinases / Q000235:genetics*
chemical_list: D048490:raf Kinases
keywords: Noonan syndrome; cerebrovascular circulation; mutation