Abstract：
A 54-year-old man with a university degree was admitted to our hospital because of a two-year history of progressive dementia. He had familial sensorineural hearing loss and had been treated for epilepsy since his 30s. On admission, he showed severe dementia and parkinsonism without fever or skin rash. Systemic inflammation was evident, and the CSF cell count and IL-6 level were elevated to 53/μl and 307 pg/ml, respectively. Brain MRI demonstrated diffuse brain atrophy. More detailed anamnesis revealed a history of rheumatoid arthritis in childhood and aseptic meningitis in his 20s. Genetic examination for autoinflammatory diseases demonstrated compound heterozygotic mutations in the NLRP3 gene, causing cryopyrin-associated periodic fever syndrome (CAPS). This case was atypical CAPS presenting as early-onset progressive dementia, without recurrent fever or urticaria-like eruption which are usually seen in this disease.
摘要：
一名54岁的具有大学学位的男子因两年的进行性痴呆病史而入院。他患有家族性感觉神经性听力损失，自30多岁以来一直接受癫痫治疗。一入场,他表现出严重的痴呆和帕金森病，没有发烧或皮疹。全身炎症很明显，CSF细胞计数和IL-6水平分别升高至53/μl和307pg/ml，分别。脑MRI显示弥漫性脑萎缩。更详细的回忆显示，儿童时期有类风湿性关节炎，20多岁时有无菌性脑膜炎。自身炎性疾病的基因检查显示NLRP3基因的复合杂合突变，引起低温吡啶相关的周期性发热综合征（CAPS）。该病例为非典型CAPS，表现为早发性进行性痴呆，没有这种疾病中常见的反复发热或荨麻疹样爆发。
