Neuroimmunology Group, Division of Neurology, Hospital das Clinicas (HCFMUSP), Faculdade de Medicina, Universidade de Sao Paulo, São Paulo, Brazil.
Faculdade de Medicina, Universidade de Sao Paulo, São Paulo, Brazil.
BMC Neurol. 2024 Apr 17;24(1):130. doi: 10.1186/s12883-024-03621-3.
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.
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.
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.
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.
单基因自身炎症性疾病可导致成人出现多种神经系统症状，常导致诊断延迟。尽管早期发现对有效治疗很重要，但这些疾病的神经系统表现仍未得到充分认识。
我们对 Pubmed、Embase 和 Scopus 进行了系统检索，以查找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。选择标准主要集中在四种最相关的成人发病自身炎症性疾病——脱氨酶 2 缺乏症（DADA2）、肿瘤坏死因子受体相关周期性发热综合征（TRAPS）、冷球蛋白血症相关周期性发热综合征（CAPS）和家族性地中海热（FMF）。我们提取了临床、实验室和影像学特征，以提出最常见的神经系统表型。
从 276 条记录中，纳入了 28 篇文章。患者的中位年龄为 38 岁，神经系统症状出现在中位疾病病程 5 年后。头痛、颅神经功能障碍、癫痫发作和局灶性神经功能缺损较为常见。主要表型包括 DADA2 患者的中风、FMF 患者的脱髓鞘病变和脑膜炎以及 CAPS 患者的脑膜炎。TRAPS 数据不足，无法充分描述其表型。
神经科医生应积极诊断表现出炎症的临床和实验室指征的年轻成年患者中的单基因自身炎症性疾病，尤其是当症状与复发性或慢性脑膜炎、小血管疾病中风和脱髓鞘病变一致时。
