视网膜血管病伴脑白质脑病:中枢神经系统血管炎的罕见模拟病例。

IF 2.4 Q2 CLINICAL NEUROLOGY
Andrew J Martin
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引用次数: 0

摘要

视网膜血管病变伴脑白质脑病是一种罕见的常染色体显性遗传疾病,是由于TREX1基因突变所致,表现为中枢神经系统(CNS)和其他器官功能障碍。根据影像学特征,该病常被误诊为脱髓鞘或血管炎,往往会不必要地接受可能有害的免疫治疗。本报告描述了两个患有进行性偏瘫、视网膜血管病变和肝功能异常的姐妹,其中一人最初被误诊为脑血管炎并接受了治疗。影像学检查显示白质病变广泛且不对称,伴有持续性弥散受限和对比度增强。广泛的自身免疫和感染检查均无异常。这两名患者的 TREX1 基因都出现了新的杂合变异,因此被诊断为视网膜血管病伴脑白质病变。临床医生在发现疑似脱髓鞘或中枢神经系统血管炎的非典型表现时应考虑这种情况。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Retinal vasculopathy with cerebral leukoencephalopathy: a rare mimic of CNS vasculitis.

Retinal vasculopathy with cerebral leukoencephalopathy is a rare autosomal dominant genetic disorder due to mutation in the TREX1 gene and presents with both central nervous system (CNS) and other organ dysfunction. It is often misdiagnosed as demyelination or vasculitis based on imaging features, often with potentially harmful immunotherapy given unnecessarily. This report describes two sisters with progressive hemiparesis, retinal vasculopathy and hepatic dysfunction, one of whom was initially misdiagnosed and treated for cerebral vasculitis. Imaging showed extensive and asymmetric white matter lesions with persistent diffusion restriction and contrast enhancement. Extensive autoimmune and infectious investigations were unremarkable. Both patients had a novel heterozygous variant in the TREX1 gene, giving a diagnosis of retinal vasculopathy with cerebral leukoencephalopathy. Clinicians should consider this condition in atypical presentations of suspected demyelination or CNS vasculitis.

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来源期刊
PRACTICAL NEUROLOGY
PRACTICAL NEUROLOGY Medicine-Neurology (clinical)
CiteScore
3.70
自引率
3.60%
发文量
113
期刊介绍: The essential point of Practical Neurology is that it is practical in the sense of being useful for everyone who sees neurological patients and who wants to keep up to date, and safe, in managing them. In other words this is a journal for jobbing neurologists - which most of us are for at least part of our time - who plough through the tension headaches and funny turns week in and week out. Primary research literature potentially relevant to routine clinical practice is far too much for any neurologist to read, let alone understand, critically appraise and assimilate. Therefore, if research is to influence clinical practice appropriately and quickly it has to be digested and provided to neurologists in an informative and convenient way.
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