An Aicardi-Goutières syndrome associated with a quasi-Moyamoya by a biallelic mutation in SAMHD1

Abstract

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.