Moyamoya disease and Down syndrome: case report and review of the literature

Acta Neurol Belg. 2002 Jun;102(2):63-6.


We present the case of a 29-year-old woman with Down syndrome who developed bilateral frontal ischemic stroke. Cerebral angiography demonstrated an occlusion of the both supraclinoid internal carotid arteries associated with dilated collateral vessels, consistent with moyamoya disease. We review the clinical and radiological features of moyamoya disease associated with Down syndrome and discuss a few major physiopathologic hypotheses to explain this association.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Carotid Stenosis / diagnostic imaging
  • Cerebral Angiography / statistics & numerical data
  • Down Syndrome / complications*
  • Down Syndrome / diagnostic imaging
  • Female
  • Humans
  • Moyamoya Disease / complications*
  • Moyamoya Disease / diagnostic imaging