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

被引：30

作者：

La Piana, Roberta ^{[1
]}

Uggetti, Carla ^{[2
]}

Olivieri, Ivana ^{[3
]}

Tonduti, Davide ^{[4
]}

Balottin, Umberto ^{[3
,4
]}

Fazzi, Elisa ^{[5
]}

Orcesi, Simona ^{[3
]}

机构：

[1] McGill Univ, Montreal Neurol Inst & Hosp, Dept Neuroradiol, Montreal, PQ, Canada

[2] San Carlo Borromeo Hosp, Dept Radiol, Unit Neuroradiol, Milan, Italy

[3] Univ Pavia, Neurol Inst C Mondino, Child Neurol & Psychiat Unit, I-27100 Pavia, Italy

[4] Univ Pavia, Unit Child Neurol & Psychiat, Dept Brain & Behav Sci, I-27100 Pavia, Italy

[5] Univ Brescia, Dept Clin & Expt Sci, Brescia, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2014年 / 164卷 / 03期

关键词：

Aicardi-Goutieres syndrome; ADAR1; infantile bilateral striatal necrosis; PROGRESSIVE FAMILIAL ENCEPHALOPATHY; BASAL GANGLIA; DEFICIENCY; INFECTION; DYSFUNCTION; DYSTONIA; MEASLES;

D O I：

10.1002/ajmg.a.36360

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

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. (c) 2013 Wiley Periodicals, Inc.

引用

页码：815 / 819

页数：5

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