A case of bilateral Moyamoya disease associated with Williams syndrome

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.