Intracerebral large artery disease in Aicardi-Goutieres syndrome with TREX1 mutation: a case report

被引：6
作者：
Wu, Chang-Chun [1 ,2 ]
Peng, Steven Shinn-Forng [3 ,4 ]
Lee, Wang-Tso [1 ,5 ,6 ]
机构：
[1] Natl Taiwan Univ Hosp, Dept Pediat, 8 Chung Shan South Rd, Taipei 100, Taiwan
[2] Taipei City Hosp, Dept Pediat, Heping Fuyou Branch, Taipei, Taiwan
[3] Natl Taiwan Univ Hosp, Dept Med Imaging, Taipei, Taiwan
[4] Natl Taiwan Univ, Coll Med, Taipei, Taiwan
[5] Natl Taiwan Univ, Coll Med, Dept Pediat, Taipei, Taiwan
[6] Natl Taiwan Univ, Coll Med, Grad Inst Brain & Mind Sci, Taipei, Taiwan
来源：
NEUROLOGICAL SCIENCES | 2020年 / 41卷 / 11期
关键词：
Aicardi-Goutieres syndrome; Intracerebral large artery disease; TREX1; SAMHD1;
D O I：
10.1007/s10072-020-04516-0
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
We report a patient diagnosed with Aicardi-Goutieres syndrome (AGS) with homozygous TREX1 gene mutation. Her magnetic resonance angiography (MRA) showed intracerebral large artery disease, which was rarely reported in the past in TREX1 AGS patients. Her younger sister also had homozygous TREX1 gene mutation and died of necrotizing enterocolitis. Intracerebral large artery involvement has been seen as a particular feature of SAMHD1-related disease. Our patient also had arthropathy, which is a finding more commonly mentioned in SAMHD1-related diseases. The observations in our case may contribute to our understanding of the pathogenetic mechanism of TREX1 AGS, involving the intracerebral large arteries, arthropathy, and possibly the gastrointestinal tract.
引用
收藏
页码：3353 / 3356
页数：4
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