Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutieres syndrome: Diagnostic and disease-monitoring implications
Spontaneous MRI improvement and absence of cerebral calcification in Aicardi-Goutieres syndrome: Diagnostic and disease-monitoring implications
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DOI：
10.1016/j.ymgme.2019.02.006
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发表时间：
2019-04-01
影响因子：
3.8
通讯作者：
Parazzini, Cecilia
中科院分区：
文献类型：
--
作者：
Tonduti, Davide;Izzo, Giana;Parazzini, Cecilia
背景：Aicardi-Goutieres综合征（AGS）是一种罕见的遗传性白质脑病，与I型干扰素的不当激活有关。神经放射学表现的典型特征是白色物质异常、脑萎缩和脑钙化。这种疾病通常在生命的第一年表现为最初的“脑炎样”阶段，随后是神经系统体征稳定的慢性阶段。最近，新的治疗策略已被提出，旨在阻止异常激活的干扰素cascades.Materials和方法：我们回顾了临床和MRI结果在三个年轻的RNASEH 2B突变的患者研究了一系列的CT和MRI study.Results：所有三名患者的临床和MRI特征与AGS一致，但非常意外，改善神经放射学过程。在患者1中，在高剂量类固醇和IVIg治疗后几个月注意到MRI改善;在患者2和3中，其自发发生。患者2没有显示脑钙化CT images.Conclusions：我们的系列突出了自发神经放射学改善AGS 2患者的可能性，以及可能性的情况下，脑钙化AGS。该研究强调了在针对这种疾病的治疗试验中使用MRI作为结局指标时需要极其谨慎。MRI随访研究在更大的系列是必要的，以描述AGS的自然过程。
Background: Aicardi-Goutieres syndrome (AGS) is a rare genetic leukoencephalopathy related to inappropriate activation of type I interferon. Neuroradiological findings are typically characterized by white matter abnormalities, cerebral atrophy and cerebral calcification. The disease usually manifests itself during the first year of life in the form of an initial "encephalitic-like" phase followed by a chronic phase of stabilization of the neurological signs. Recently new therapeutic strategies have been proposed aimed at blocking the abnormal activation of the interferon cascade.Materials and methods: We reviewed clinical and MRI findings in three young RNASEH2B-mutated patients studied with serial CT and MRI studies.Results: All three patients presented clinical and MRI features consistent with AGS but, very unexpectedly, an improving neuroradiological course. In patient 1, the MRI improvement was noted some months after treatment with high-dose steroid and IVIg treatment; in patients 2 and 3 it occurred spontaneously. Patient 2 did not show cerebral calcification on CT images.Conclusions: Our series highlights the possibility of spontaneous neuroradiological improvement in AGS2 patients, as well as the possibility of absence of cerebral calcification in AGS. The study underlines the need for extreme caution when using MRI as an outcome measure in therapeutic trials specific for this disease. MRI follow-up studies in larger series are necessary to describe the natural course of AGS.