Aicardi–Goutières syndrome (AGS) is a rare and likely underdiagnosed genetic leukoencephalopathy, typically presenting in infancy with encephalopathy and characteristic neuroimaging features, with residual static neurological deficits. We describe a patient who, following an initial presentation at the age of 12 months in keeping with AGS, exhibited a highly atypical relapsing course of neurological symptoms in adulthood with essentially normal neuroimaging. Whole‐exome sequencing confirmed a pathogenic RNASEH2B gene variant consistent with AGS. This case highlights the expanding phenotypes associated with AGS and the potential role of whole‐exome sequencing in facilitating an increase in the rate of diagnosis.

中文翻译：

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复发缓解临床病程扩大了 Aicardi-Goutières 综合征的表型。

Aicardi-Goutières 综合征 (AGS) 是一种罕见且可能未被确诊的遗传性白质脑病，通常在婴儿期出现脑病和特征性神经影像学特征，并伴有残留的静态神经功能缺损。我们描述了一名患者，该患者在 12 个月大时首次出现符合 AGS 的情况后，在成年期表现出高度非典型的神经系统症状复发过程，神经影像学基本正常。全外显子组测序证实了与 AGS 一致的致病性RNASEH2B基因变异。该病例突出了与 AGS 相关的不断扩大的表型以及全外显子组测序在促进诊断率提高方面的潜在作用。