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- W2124292015 abstract "Aicardi-Goutières syndrome (AGS) is a genetic inflammatory disease. The classic neuroradiological picture mimics that of congenital infections in that Aicardi-Goutières 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-Goutières syndrome in which brain MRI and CT scans demonstrated bilateral striatal necrosis. The diagnosis of Aicardi-Goutières syndrome in these two patients was genetically confirmed after the recent discovery that mutations in the ADAR1 (AGS6) gene may cause Aicardi-Goutières syndrome. This is the first report of bilateral striatal necrosis in association with Aicardi-Goutières syndrome. These results expand the neuroradiological phenotype of Aicardi-Goutières syndrome." @default.
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- W2124292015 date "2013-12-20" @default.
- W2124292015 modified "2023-10-06" @default.
- W2124292015 title "Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in<i>ADAR1</i>(<i>AGS6</i>)" @default.
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- W2124292015 doi "https://doi.org/10.1002/ajmg.a.36360" @default.
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