A case of bilateral Moyamoya disease associated with Williams syndrome
- Author:
Hyung-Suk Lee
;
Dong-Ick Shin
;
Eun-Ja Lee
;
Sung-Choon Park
;
Sang-Hoon Cha
;
Jang Soo Hong
;
Heon-Seok Han
;
Byeong Cheol Rim
;
Sung-Hyun Lee
;
Sang-Soo Lee
- Publication Type:Case Reports
- From:Neurology Asia
2010;15(2):173-177
- CountryMalaysia
- Language:English
-
Abstract:
Bilateral Moyamoya disease manifesting as ischemic stroke in a patient with Williams syndrome
has not been previously reported. Williams syndrome is a genetic disorder characterized by infantile
hypercalcemia, elfi n facial features, an outgoing personality, and cardiovascular abnormalities. It
has been found to be related to elastin gene defect. Cerebrovascular abnormalities with associated
strokes in Williams syndrome have been described only recently and rarely. Moyamoya disease is a
cerebrovascular disorder characterized by progressive occlusion of the supraclinoid internal carotid
artery. The pathogenesis of Moyamoya disease is unclear. Only a single report of Moyamoya disease
associated with Williams syndrome manifesting as an intracerebral hemorrhage has been published.
We report the fi rst case of bilateral Moyamoya disease manifesting as ischemic stroke in a patient
with Williams syndrome. We propose that inherited moyamoya disease is also related to elastin gene
defect.
- Full text:P020150902405324265602.pdf
