| 伍晓慧,李向荣,黄诗琴.3例Aicardi-Goutières综合征颅脑影像学表现及文献复习[J].中国医学影像技术,2022,38(9):1312~1315 |
| 3例Aicardi-Goutières综合征颅脑影像学表现及文献复习 |
| Brain imaging manifestations of Aicardi-Goutières syndrome and literature review:Report of 3 cases |
| 投稿时间：2022-04-09 修订日期：2022-06-13 |
| DOI：10.13929/j.issn.1003-3289.2022.09.007 |
| 中文关键词: 遗传性疾病,先天性 中枢神经系统 诊断显像 Aicardi-Goutières综合征 |
| 英文关键词:genetic diseases, inborn central nervous system diagnostic imaging Aicardi-Goutières syndrome |
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| 中文摘要: |
| 目的 结合文献回顾观察Aicardi-Goutières综合征(AGS)影像学表现。方法 回顾性分析3例经基因检测证实的AGS患儿，患儿月龄分别为3、5、8个月，均接受颅脑MR检查，其中1例(病例3)接受颅脑CT检查，结合文献分析其颅脑MRI及CT表现。结果 颅脑MRI显示，病例1双侧侧脑室、双侧额颞部脑外间隙增宽；病例2未见明显异常；病例3脑萎缩，双侧侧脑室前角旁异常呈T1WI等信号、T2WI及T2-液体衰减翻转恢复(T2-FLAIR)序列呈稍高信号。颅脑CT显示病例3脑萎缩，双侧基底核区、双侧侧脑室前角旁钙化，双侧侧脑室前角旁低密度灶。结论 颅内钙化、脑萎缩和脑白质营养不良为AGS常见影像学表现。 |
| 英文摘要: |
| Objective To observe brain imaging manifestations of Aicardi-Goutières syndrome (AGS) combining with literature review. Methods Data of 3 children aged 3, 5 and 8 months with AGS confirmed by genetic testing were retrospectively analyzed. All 3 cases underwent brain MR examination, while 1 case (No.3) underwent brain CT. MRI and CT manifestations of AGS were analyzed in combination with literature. Results Brain MRI showed bilateral lateral ventricles and bilateral frontotemporal extracranial space widening in No.1 case, no obvious abnormality in No.2 case, but brain atrophy, abnormal signal at the anterior corner of bilateral lateral ventricles, iso T1WI signals, slightly high T2WI and T2-fluid attenuated inversion recovery (T2-FLAIR) signals in No.3. Brain CT showed cerebral atrophy, calcification in bilateral basal ganglia and the anterior corner of bilateral lateral ventricles, and low density lesions were found in the anterior corner of bilateral lateral ventricles in No.3 case. Conclusion Intracranial calcifications, brain atrophy and leukodystrophy were the common imaging manifestations of AGS. |
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