Moyamoya Syndrome Associated with Down Syndrome
OBJECTIVES
To review the basic pathophysiology of moyamoya disease.
To review clinical characteristics of moyamoya disease.
To discuss ancillary diagnostic tests in moyamoya disease.
To review management principles in moyamoya disease.
VIGNETTE
At the age of 18, this boy experienced transient right upper extremity weakness associated with dysarthria and right facial weakness.
CASE SUMMARY
Our patient had specific facial features, brachiocephaly, up-slanted and narrow palpebral fissures, shortened digits, hypotonia, and joint hyperextensibility, characteristic of trisomy 21 or Down syndrome. He also had hypothyroidism and sleep apnea but no underlying congenital heart disease. His stroke was due to moyamoya syndrome.