Are the strokes in moyamoya syndrome associated with Down syndrome due to protein C deficiency?

Brain Dev. 2002 Oct;24(7):719-22. doi: 10.1016/s0387-7604(02)00075-x.


Moyamoya syndrome has occasionally been seen in association with Down syndrome. We report a child with moyamoya syndrome and Down syndrome who was admitted with repeated episodes of strokes; his magnetic resonance imaging and magnetic resonance angiography findings confirmed the presence of occlusive cerebrovascular disease with basal collateral vessels. His protein C levels were significantly decreased during the stroke. Complete clinical recovery was seen during follow-up. This raises the possibility of a link between protein C deficiency and Down syndrome with moyamoya syndrome.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Down Syndrome / blood
  • Down Syndrome / complications*
  • Down Syndrome / diagnosis
  • Humans
  • Magnetic Resonance Angiography
  • Magnetic Resonance Imaging
  • Male
  • Moyamoya Disease / blood
  • Moyamoya Disease / complications*
  • Moyamoya Disease / diagnosis
  • Protein C Deficiency / blood
  • Protein C Deficiency / complications*
  • Recovery of Function
  • Stroke / blood
  • Stroke / diagnosis
  • Stroke / etiology*