Rare dual diagnoses in an infant: Aicardi-Goutieres and Moyamoya Syndromes

Aicardi-Goutières syndrome (AGS) is a severe subacute pediatric encephalopathy, genetically determined and associated with autoimmune manifestations. Described for the first time in 1984, more than a hundred forty cases have since been reported in the literature. However, its difficult diagnosis and confirmation, as well as its clinical polymorphism, involve many different skills: from radiological diagnosis to ultra-specialized genetic confirmation. First described in 1957, Moyamoya vasculopathy is characterized by progressive stenosis of the intracranial internal carotid arteries and their proximal branches. This restraint in blood flow of the brain results in strokes and fractional development of collateral small vessels. On neuroimaging, the appearance of these abnormal lenticulostriate collateral vessels is commonly described as a “puff of smoke,” which is translated to Moyamoya in Japanese.The association of these two rare conditions, has only been little described. Herein, we describe a unique case of a 2-month-old infant with ischemic stroke found to have Moyamoya syndrome and AGS in the context of rare dual genetic diagnoses occurring in the same child, contributing to her cerebrovascular pathology.
Keywords: Moyamoya, Aicardi Goutieres