Moon Jangsup
Rare Disease Center, Departments of Genomic Medicine and Neurology, Seoul National University Hospital, Seoul, Korea.
Encephalitis. 2022 Apr;2(2):29-35. doi: 10.47936/encephalitis.2021.00164. Epub 2022 Feb 10.
Differential diagnosis of meningitis and encephalitis is often very challenging because it cannot be determined based on symptoms, and the diseases have various causes. This article explains rare genetic causes of meningitis and encephalitis. Autoinflammatory disorders include cryopyrin-associated periodic syndromes, familial Mediterranean fever, and tumor necrosis factor receptor-associated periodic syndrome. Furthermore, other genetic disorders, such as complement factor I deficiency, phosphatidylinositol glycan anchor biosynthesis class T mutation, and neuronal intranuclear inclusion disease, can present as meningitis and encephalitis.
脑膜炎和脑炎的鉴别诊断通常极具挑战性,因为无法依据症状来确定,且这些疾病有多种病因。本文阐述了脑膜炎和脑炎罕见的遗传病因。自身炎症性疾病包括冷吡啉相关周期性综合征、家族性地中海热以及肿瘤坏死因子受体相关周期性综合征。此外,其他遗传疾病,如补体因子I缺乏症、磷脂酰肌醇聚糖锚定生物合成T类突变以及神经元核内包涵体病,也可能表现为脑膜炎和脑炎。