Ischemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndrome

J Pediatr. 1995 Jun;126(6):945-8. doi: 10.1016/s0022-3476(95)70217-2.


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.

Publication types

  • Case Reports

MeSH terms

  • 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


  • Elastin