title: Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).
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.
authors.affiliation: Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
authors.forename: Roberta
authors.initials: R
authors.lastname: La Piana
authors.forename: Carla
authors.initials: C
authors.lastname: Uggetti
authors.forename: Ivana
authors.initials: I
authors.lastname: Olivieri
authors.forename: Davide
authors.initials: D
authors.lastname: Tonduti
authors.forename: Umberto
authors.initials: U
authors.lastname: Balottin
authors.forename: Elisa
authors.initials: E
authors.lastname: Fazzi
authors.forename: Simona
authors.initials: S
authors.lastname: Orcesi
mesh_terms: D000243:Adenosine Deaminase / Q000235:genetics*; D020274:Autoimmune Diseases of the Nervous System / Q000175:diagnosis* / Q000235:genetics*; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D003342:Corpus Striatum / Q000473:pathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D009336:Necrosis; D009421:Nervous System Malformations / Q000175:diagnosis* / Q000235:genetics*; D016601:RNA-Binding Proteins; D014057:Tomography, X-Ray Computed
chemical_list: D016601:RNA-Binding Proteins; C567955:ADARB1 protein, human; D000243:Adenosine Deaminase
keywords: ADAR1; Aicardi-Goutières syndrome; infantile bilateral striatal necrosis