PDF(Pubmed)
Abstract：
BACKGROUND: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
背景：伴有脑白质脑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的系统性微血管疾病，归因于TREX1（三主修复核酸外切酶-1）基因突变，经常被误诊。
方法：我们报道了一例由于TREX1基因突变导致的RVCL-S与系统性红斑狼疮共存的病例。这项研究提供了以前记录的与TREX1突变或RVCL-S相关的病例的总结和讨论。
结果：一名39岁女性患者因进行性记忆丧失和言语困难而就诊。磁共振成像结果显示两个大脑半球的call体萎缩和多个皮质下钙化。基因检测显示TREX1基因突变（c.294dupA）。免疫抑制治疗2个月可改善沟通和流动性。我们还总结了以前报道的病例，提供了TREX1基因突变或RCVL-S的概述。
结论：我们的案例为未来的RVCL-S诊断和治疗范例建立了令人信服的基础。值得注意的是,在RVCL-S患者中进行全身免疫筛查已成为防止潜在诊断失误的战略方法.
方法：我们报道了一例由于TREX1基因突变导致的RVCL-S与系统性红斑狼疮共存的病例。这项研究提供了以前记录的与TREX1突变或RVCL-S相关的病例的总结和讨论。
结果：一名39岁女性患者因进行性记忆丧失和言语困难而就诊。磁共振成像结果显示两个大脑半球的call体萎缩和多个皮质下钙化。基因检测显示TREX1基因突变（c.294dupA）。免疫抑制治疗2个月可改善沟通和流动性。我们还总结了以前报道的病例，提供了TREX1基因突变或RCVL-S的概述。
结论：我们的案例为未来的RVCL-S诊断和治疗范例建立了令人信服的基础。值得注意的是,在RVCL-S患者中进行全身免疫筛查已成为防止潜在诊断失误的战略方法.
