Are the strokes in moyamoya syndrome associated with Down syndrome due to protein C deficiency?
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.
Gururaj
A
A
Department of Paediatrics, Faculty of Medicine, UAE University and Tawam Hospital, Al Ain, United Arab Emirates. gururaja@uaeu.ac.ae
Hardy
D
D
Al-Gazali
L I
LI
Sztriha
L
L
Roos
A
A
Nork
M
M
D002675:Child, Preschool; D004314:Down Syndrome / Q000097:blood / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008297:Male; D009072:Moyamoya Disease / Q000097:blood / Q000150:complications* / Q000175:diagnosis; D020151:Protein C Deficiency / Q000097:blood / Q000150:complications*; D020127:Recovery of Function; D020521:Stroke / Q000097:blood / Q000175:diagnosis / Q000209:etiology*