Bilateral Striatal Necrosis in Two Subjects With Aicardi-Goutieres Syndrome due to Mutations in ADAR1 (AGS6)

Aicardi-Goutieres syndrome (AGS) is a genetic inflammatory disease. The classic neuroradiological picture mimics that of congenital infections in that Aicardi-Goutieres syndrome is characterized by leukoencephalopathy, brain atrophy and intracranial calcifications. To date, bilateral striatal necrosis has not been reported in patients with AGS. We report on two patients with clinical diagnosis of Aicardi-Goutieres syndrome in which brain MRI and CT scans demonstrated bilateral striatal necrosis. The diagnosis of Aicardi-Goutieres syndrome in these two patients was genetically confirmed after the recent discovery that mutations in the ADAR1 (AGS6) gene may cause Aicardi-Goutieres syndrome. This is the first report of bilateral striatal necrosis in association with Aicardi-Goutieres syndrome. These results expand the neuroradiological phenotype of Aicardi-Goutieres syndrome.