背景:单基因自身炎症性疾病会导致成人出现多种神经系统症状,经常导致诊断延迟。尽管早期发现对有效治疗具有重要意义,这些疾病的神经系统表现仍未得到充分的认识。
方法:我们进行了系统综述,Embase和Scopus与成人发病的单基因自身炎症性疾病的神经系统表现相关的病例报告和病例系列。选择标准集中在四种最相关的成人发作的自身炎性疾病-脱氨酶2(DADA2)缺乏,肿瘤坏死因子受体相关的周期性发热综合征(TRAPS),cryopyrin相关的周期性发热综合征(CAPS),和家族性地中海热(FMF)。我们提取了临床,实验室和放射学特征,以提出最常见的神经系统表型。
结果:来自276条记录,共包括28篇文章。患者年龄中位数为38岁,中位疾病持续时间为5年后出现神经系统症状。头痛,颅神经功能障碍,癫痫发作,局灶性神经功能缺损很普遍。主要表型包括DADA2患者的卒中,FMF的脱髓鞘病变和脑膜炎,和CAPS的脑膜炎。TRAPS没有足够的数据来进行充分的表型表征。
结论:神经科医师应积极诊断年轻人的单基因自身炎症性疾病,显示出炎症的临床和实验室适应症。特别是当症状与复发性或慢性脑膜炎一致时,小血管病中风,和脱髓鞘病变。
BACKGROUND: Monogenic autoinflammatory disorders result in a diverse range of neurological symptoms in adults, often leading to diagnostic delays. Despite the significance of early detection for effective treatment, the neurological manifestations of these disorders remain inadequately recognized.
METHODS: We conducted a systematic review searching Pubmed, Embase and Scopus for case reports and case series related to neurological manifestations in adult-onset monogenic autoinflammatory diseases. Selection criteria focused on the four most relevant adult-onset autoinflammatory diseases-deficiency of deaminase 2 (DADA2), tumor necrosis factor receptor associated periodic fever syndrome (TRAPS), cryopyrin associated periodic fever syndrome (CAPS), and familial mediterranean fever (FMF). We extracted clinical, laboratory and radiological features to propose the most common neurological phenotypes.
RESULTS: From 276 records, 28 articles were included. The median patient age was 38, with neurological symptoms appearing after a median disease duration of 5 years. Headaches, cranial nerve dysfunction, seizures, and focal neurological deficits were prevalent. Predominant phenotypes included stroke for DADA2 patients, demyelinating lesions and meningitis for FMF, and meningitis for CAPS. TRAPS had insufficient data for adequate phenotype characterization.
CONCLUSIONS: Neurologists should be proactive in diagnosing monogenic autoinflammatory diseases in young adults showcasing clinical and laboratory indications of inflammation, especially when symptoms align with recurrent or chronic meningitis, small vessel disease strokes, and demyelinating lesions.