Cerebrovascular stenoses with cerebral infarction in a child with Williams syndrome

Am J Med Genet. 1994 Jul 1;51(3):200-2. doi: 10.1002/ajmg.1320510305.


We report on a patient with Williams syndrome who suffered a cerebrovascular accident. Clinical evaluation demonstrated the presence of carotid and cerebral arterial stenoses. We believe these lesions led to acute cerebrovascular ischemia and a non-hemorrhagic cerebral infarction. It is possible the stenoses were exacerbated by a vasculitis. The stenoses were identified by both invasive and noninvasive imaging studies. These studies may have a role in the evaluation of persons with Williams syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Brain Ischemia / etiology
  • Carotid Artery, Internal
  • Carotid Stenosis / complications*
  • Carotid Stenosis / diagnostic imaging
  • Cerebral Angiography
  • Cerebral Arterial Diseases / complications*
  • Cerebral Arterial Diseases / diagnostic imaging
  • Cerebral Infarction / etiology*
  • Child, Preschool
  • Facial Expression
  • Growth Disorders / complications
  • Heart Defects, Congenital / complications
  • Humans
  • Intellectual Disability / complications
  • Male
  • Syndrome