Department of Geriatrics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, China.
Innovation Center for Neurological Disorders, Department of Neurology, Xuanwu Hospital, Capital Medical University, National Center for Neurological Disorders, Beijing, China.
Immun Inflamm Dis. 2024 Aug;12(8):e1367. doi: 10.1002/iid3.1367.
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare autosomal dominant systemic microvascular disorder attributed to TREX1 (three-prime repair exonuclease-1) gene mutations, often proned to misdiagnosed.
We reported a case of RVCL-S coexisting with systemic lupus erythematosus due to a mutation in the TREX1 gene. This study provided a summary and discussion of previously documented cases related to TREX1 mutations or RVCL-S.
A 39-year-old female patient visited the clinic due to progressive memory loss and speech difficulties. Magnetic resonance imaging results showed corpus callosum atrophy and multiple subcortical calcifications in both brain hemispheres. Genetic testing revealed a TREX1 gene mutation (c.294dupA). Treatment with immunosuppressive therapy for 2 months led to improvements in communication and mobility. We also summarized previously reported cases providing an overview of TREX1 gene mutation or RCVL-S.
Our case establishes a compelling foundation for future RVCL-S diagnosis and treatment paradigms. Notably, conducting systemic immunity screening in patients with RVCL-S emerges as a strategic approach to prevent potential diagnostic oversights.
伴有脑白质病和全身表现的视网膜血管病变（RVCL-S）是一种罕见的常染色体显性遗传性全身微血管疾病，归因于 TREX1（三末端修复外切核酸酶-1）基因突变，常易误诊。
我们报告了一例因 TREX1 基因突变导致 RVCL-S 合并系统性红斑狼疮的病例。本研究对以前与 TREX1 突变或 RVCL-S 相关的病例进行了总结和讨论。
一名 39 岁女性患者因进行性记忆力减退和言语困难就诊。磁共振成像结果显示胼胝体萎缩和双侧大脑半球多个皮质下钙化。基因检测显示 TREX1 基因突变（c.294dupA）。接受 2 个月的免疫抑制治疗后，沟通和活动能力有所改善。我们还总结了以前报告的病例，概述了 TREX1 基因突变或 RVCL-S。
我们的病例为未来的 RVCL-S 诊断和治疗模式奠定了坚实的基础。值得注意的是，对 RVCL-S 患者进行系统性免疫筛查是预防潜在诊断遗漏的一种策略。
