Medicine and Health Sciences Commons^™

Moyamoya Syndrome In An Infant With Aicardi-Goutières And Williams Syndromes: A Case Report, Jagraj S. Brar, Rahul Verma, Mohammed Al-Omari, Victoria M. Siu, Andrea V. Andrade, Michael T. Jurkiewicz, Saptharishi Lalgudi Ganesan

Paediatrics Publications

Stroke in infancy is a rare phenomenon but can lead to significant long-term disability. We present the story of a 6-month-old Old Order Amish infant with underlying Williams syndrome, a rare neurodevelopmental disorder caused by a microdeletion, encompassing the elastin gene that produces abnormalities in elastic fibers of the lungs and vessels. This infant presented with lethargy, irritability, and a new-onset generalized tonic-clonic seizure. Brain magnetic resonance imaging (MRI) was consistent with ischemic stroke in the supratentorial regions. MR angiogram demonstrated bilateral narrowing of the internal carotid arteries with ivy sign, suggestive of Moyamoya. Moyamoya disease/syndrome is a cerebrovascular condition …