SAMHD1 is one of seven known genes responsible for Aicardi-Goutières syndrome. It has the particularity to associate to this rare pediatric encephalopathy with autoimmune manifestations, a cerebral vasculopathy type Moyamoya. This condition has only been recently reported, less than fifty times in the literature. Our clinical case is a 11 year old boy from an inbred union whose clinical diagnosis confirmed genetically and followed by a review of current data determined an ad hoc management, presently described. He underwent indirect neurosurgical revascularization by a multiple burr hole technique. Through this clinical case, we tried taking stock of what we know -clinical, physiopathological and therapeutical aspects- given the rarity of this disease, first on the syndrome as such, then on the peculiarities of the gene mutations of interest.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.