Aicardi-Goutières syndrome (AGS) is a genetic interferonopathy characterized by upregulation of type I interferon response. It is associated with increased mortality and severe disabilities. Janus Kinase (JAK) inhibitors have shown effectiveness in treatment of AGS through blocking the downstream effects of interferon activation. We illustrate post-mortem histopathologic findings in a patient with AGS who received baricitinib treatment for a duration of over 4 years, initiating at a remarkably young age of 2 months. We observed global cerebral atrophy, markedly diminished white matter, abundant calcifications involving supratentorial white matter, basal ganglia, dentate nuclei, and brainstem. This study showed profound central nervous system (CNS) sequelae despite early initiation of treatment. Our findings highlight the potential necessity for therapeutic options with enhanced CNS bioavailability.

Aicardi-Goutières 综合征 (AGS) 是一种遗传性干扰素病，其特征是 I 型干扰素反应上调。它与死亡率增加和严重残疾有关。Janus 激酶 (JAK) 抑制剂通过阻断干扰素激活的下游效应，显示出治疗 AGS 的有效性。我们展示了一名 AGS 患者的尸检组织病理学结果，该患者在 2 个月大时就开始接受巴瑞替尼治疗超过 4 年。我们观察到全脑萎缩，白质明显减少，幕上白质、基底神经节、齿状核和脑干有大量钙化。这项研究显示，尽管早期开始治疗，但仍存在严重的中枢神经系统（CNS）后遗症。我们的研究结果强调了具有增强中枢神经系统生物利用度的治疗选择的潜在必要性。