Moya-Moya syndrome and Down syndrome – a case report

Objective: Moya-Moya syndrome is a rare cerebrovascular disease with progressive stenosis or occlusion of the distal segment of the internal carotid artery. Its etiology remains undetermined. It affects all ethnic groups, although cases are much more frequently encountered in Japan. There is no causal therapy. We show that radiologic MRI characteristics like bilateral insult-like defects in association with typical striking features guide the diagnosis of Moya-Moya syndrome.

Methods: We present a child with Down Syndrome and acute infarction of right a. cerebri media.

Results: The cerebral MRI showed a cerebrovascular disorder with a new infarction of right a. cerebri media, as well as an identical defect on the left side corresponding to an older infarction on this side. In addition there is a stenosis of the arteries of the circle of Willis. Secondarily, small collateral vessels arise distal to stenosed or occluded ones. All these features guide to the diagnosis of Moya-Moya Syndrome. A possible relationship of children with Down Syndrome with Moya-Moya Syndrome has already been reported.

Conclusion: In case of sudden neurologic deficits in children with Down syndrome an association with Moya-Moya syndrome should be considered.

Keywords: Moya-Moya syndrome, Down syndrome, a. stenosis