Division of Neurointervention Clinic, Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Department of Diagnostic and Interventional Radiology, Imam Abdulrahman Bin Faisal University, King Fahd Hospital of the University, Al-Khobar City, Eastern Province, Saudi Arabia.
Korean J Radiol. 2021 Aug;22(8):1379-1396. doi: 10.3348/kjr.2020.1171. Epub 2021 May 20.
Rare neurovascular diseases (RNVDs) have not been well-recognized in Korea. They involve the central nervous system and greatly affect the patients' lives. However, these diseases are difficult to diagnose and treat due to their rarity and incurability. We established a list of RNVDs by referring to the previous literature and databases worldwide to better understand the diseases and their current management status. We categorized 68 RNVDs based on their pathophysiology and clinical manifestations and estimated the prevalence of each disease in Korea. Recent advances in genetic, molecular, and developmental research have enabled further understanding of these RNVDs. Herein, we review each disease, while considering its classification based on updated pathologic mechanisms, and discuss the management status of RNVD in Korea.
韩国对罕见神经血管疾病（RNVDs）认识不足。这些疾病涉及中枢神经系统，极大地影响了患者的生活。然而，由于这些疾病的罕见性和不可治愈性，诊断和治疗都很困难。我们参考了世界各地的先前文献和数据库，建立了一个 RNVD 清单，以便更好地了解这些疾病及其当前的管理状况。我们根据病理生理学和临床表现对 68 种 RNVD 进行了分类，并估计了每种疾病在韩国的患病率。遗传、分子和发育研究的最新进展使我们能够进一步了解这些 RNVDs。在此，我们对每种疾病进行了综述，同时考虑了根据更新的病理机制进行的分类，并讨论了韩国 RNVD 的管理状况。
