Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndrome

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 magneti...

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Published in:The Journal of pediatrics 1995-06, Vol.126 (6), p.945-948
Main Authors: Soper, R, Chaloupka, J C, Fayad, P B, Greally, J M, Shaywitz, B A, Awad, I A, Pober, B R
Format: Article
Language:English
Subjects:
Brain Ischemia - etiology
Cerebral Arterial Diseases - etiology
Constriction, Pathologic
Elastin - genetics
Gene Deletion
Humans
Infant
Infant, Newborn
Magnetic Resonance Angiography
Magnetic Resonance Imaging
Male
Ultrasonography, Doppler, Transcranial
Vascular Diseases - complications
Vascular Diseases - congenital
Vascular Diseases - diagnosis
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container_end_page 948
container_issue 6
container_start_page 945
container_title The Journal of pediatrics
container_volume 126
creator Soper, R
Chaloupka, J C
Fayad, P B
Greally, J M
Shaywitz, B A
Awad, I A
Pober, B R
description 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.
doi_str_mv 10.1016/S0022-3476(95)70217-2
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source ScienceDirect Journals
subjects Brain Ischemia - etiology
Cerebral Arterial Diseases - etiology
Constriction, Pathologic
Elastin - genetics
Gene Deletion
Humans
Infant
Infant, Newborn
Magnetic Resonance Angiography
Magnetic Resonance Imaging
Male
Ultrasonography, Doppler, Transcranial
Vascular Diseases - complications
Vascular Diseases - congenital
Vascular Diseases - diagnosis
title Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndrome
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