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Cerebral artery stenoses in Williams syndrome cause strokes in childhood

P Kaplan1, M Levinson, B S Kaplan

  • 1Children's Hospital of Philadelphia, PA 19104-4399, USA.

Insights

Cerebral artery narrowing caused strokes and brain damage in children with Williams syndrome. These arterial stenoses are not exclusive to the aorta or pulmonary arteries in affected individuals.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Williams syndrome is a genetic disorder associated with cardiovascular abnormalities.
  • Cerebral artery stenosis is a less commonly recognized feature in Williams syndrome.

Observation:

  • Two children with Williams syndrome presented with neurological deficits.
  • Initial symptoms included irritability, loss of consciousness, and seizures.

Findings:

  • Extensive narrowing of cerebral artery lumens was identified in both patients.
  • This cerebrovascular stenosis led to strokes, brain damage, and chronic hemiparesis.
  • The arterial stenoses extended beyond the aorta and pulmonary arteries.

Implications:

  • Highlights the potential for cerebrovascular complications in Williams syndrome.
  • Suggests the need for vigilant neurological monitoring in pediatric patients with Williams syndrome.
  • Broadens the understanding of vascular manifestations in Williams syndrome beyond typical supravalvular aortic stenosis.

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