Vascular dysplasia in Down syndrome: a possible relationship to moyamoya disease

Brain Dev. 1992 Jul;14(4):248-51. doi: 10.1016/s0387-7604(12)80239-7.


The brain of a child with Down syndrome (DS) and vascular abnormalities is described. Neuropathological examination showed a large cerebral infarction. In the circle of Willis there was hypoplasia of the left middle and posterior communicating cerebral arteries, and microscopically there was thickening of intima and focal disruption of internal elastica in some areas of the circle of Willis. Several reports suggest that the incidence of moyamoya disease is higher in children with DS than in other children. The high incidence of congenital heart disease in DS suggests an abnormality of vascular development that may manifest intracranially as a structural vascular defect, creating a vulnerability to unknown factors important in the pathogenesis of the moyamoya abnormality.

Publication types

  • Case Reports

MeSH terms

  • Blood Vessels / abnormalities*
  • Brain / pathology
  • Circle of Willis / abnormalities
  • Circle of Willis / physiopathology
  • Down Syndrome / pathology
  • Down Syndrome / physiopathology*
  • Female
  • Heart Defects, Congenital / pathology
  • Humans
  • Infant
  • Moyamoya Disease / pathology
  • Moyamoya Disease / physiopathology*