title: Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndrome.
abstract: We describe an otherwise healthy 2-year-old patient with Williams syndrome who had a stroke as a result of intracranial multivessel focal and segmental stenotic disease. The diagnosis of Williams syndrome was confirmed by elastin gene deletion testing. Combined magnetic resonance imaging and magnetic resonance angiography, and transcranial Doppler flow studies, were used in diagnosing and monitoring the course of the disease.
authors.affiliation: Department of Genetics, Yale University School of Medicine, New Haven, CT 06520-8005, USA.
authors.forename: R
authors.initials: R
authors.lastname: Soper
authors.forename: J C
authors.initials: JC
authors.lastname: Chaloupka
authors.forename: P B
authors.initials: PB
authors.lastname: Fayad
authors.forename: J M
authors.initials: JM
authors.lastname: Greally
authors.forename: B A
authors.initials: BA
authors.lastname: Shaywitz
authors.forename: I A
authors.initials: IA
authors.lastname: Awad
authors.forename: B R
authors.initials: BR
authors.lastname: Pober
mesh_terms: D002545:Brain Ischemia / Q000209:etiology*; D002539:Cerebral Arterial Diseases / Q000209:etiology*; D003251:Constriction, Pathologic; D004549:Elastin / Q000235:genetics; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D017585:Ultrasonography, Doppler, Transcranial; D014652:Vascular Diseases / Q000150:complications* / Q000151:congenital* / Q000175:diagnosis
chemical_list: D004549:Elastin