两名 Aicardi-Goutières 综合征（AGS6）患者因 ADAR1（AGS6）基因突变导致双侧纹状体坏死。
Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).
机构信息
Department of Neuroradiology, Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada.
出版信息
Am J Med Genet A. 2014 Mar;164A(3):815-9. doi: 10.1002/ajmg.a.36360. Epub 2013 Dec 20.
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.
Aicardi-Goutières 综合征（AGS）是一种遗传性炎症性疾病。经典的神经放射学表现类似于先天性感染，因为 Aicardi-Goutières 综合征的特征是白质脑病、脑萎缩和颅内钙化。迄今为止，AGS 患者中尚未报道双侧纹状体坏死。我们报告了两例临床诊断为 Aicardi-Goutières 综合征的患者，其脑 MRI 和 CT 扫描显示双侧纹状体坏死。在最近发现 ADAR1（AGS6）基因突变可能导致 Aicardi-Goutières 综合征后，这两名患者的 Aicardi-Goutières 综合征的诊断得到了基因确认。这是首例与 Aicardi-Goutières 综合征相关的双侧纹状体坏死的报告。这些结果扩展了 Aicardi-Goutières 综合征的神经放射学表型。
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