ABSTRACT

Multiple sclerosis (MS) is an inflammatory neurodegenerative disorder manifesting as gradual or progressive loss of neurological functions. Most patients present with relapsing-remitting disease courses. Extensive research over recent decades has expounded our insights into the presentations and diagnostic features of MS. Groups of genetic diseases, CADASIL and leukodystrophies, for example, have been frequently misdiagnosed with MS due to some overlapping clinical and radiological features. The delayed identification of these diseases in late adulthood can lead to severe neurological complications. Herein we discuss genetic diseases that have the potential to mimic multiple sclerosis, with highlights on clinical identification and practicing pearls that may aid physicians in recognizing MS-mimics with genetic background in clinical settings.

摘要

多发性硬化症 (MS) 是一种炎症性神经退行性疾病，表现为神经功能逐渐或进行性丧失。大多数患者表现为复发-缓解病程。近几十年来的广泛研究阐述了我们对 MS 的表现和诊断特征的见解。例如，由于某些重叠的临床和放射学特征，遗传疾病组、CADASIL 和脑白质营养不良经常被误诊为 MS。在成年后期延迟识别这些疾病会导致严重的神经系统并发症。在此，我们讨论了可能模仿多发性硬化症的遗传疾病，重点介绍了临床鉴定和实践珍珠，这些珍珠可能有助于医生在临床环境中识别具有遗传背景的 MS 模拟物。