散发型克雅氏病1例并文献复习

Sporadic Creutzfeldt-Jakob Disease: A Case Report and Literature Review

摘要: 目的：对散发型克雅氏病的临床表现、诊断、鉴别诊断、治疗及预后进行探讨。方法：回顾性分析三峡大学附属宜昌市中心人民医院收治的1例散发型克雅氏病患者的临床资料，并进行相关文献复习。结果：患者，男性，43岁，主诉“头昏2月余，行走不稳1月余”，就诊于神经内科。患者2月前无明显诱因出现头昏，头部昏沉发胀感，近1月来出现行走不稳，行走时左右摇晃，如喝醉酒状，伴进食后呕吐食物。完善颅脑DWI示双侧额颞顶枕皮层弥散受限，表现出典型“皮层绸带征”。行腰椎穿刺检查，脑脊液送检14-3-3蛋白γ亚型检测阳性。根据患者症状、体征及入院后相关辅助检查结果诊断为：散发型克雅氏病。确诊后予以对症支持等治疗。患者出院30 d后电话随访，患者症状无明显改善，最终死亡。

Abstract: Objective: To investigate the clinical manifestations, diagnosis, differential diagnosis, treatment, and prognosis of sporadic Creutzfeldt-Jakob disease (sCJD). Methods: A retrospective analysis was conducted on the clinical data of a sCJD patient admitted to Yichang Central People’s Hospital affiliated with China Three Gorges University, supplemented by a comprehensive literature review. Results: A 43-year-old male presented to the neurology department with a 2-month history of persistent dizziness and a 1-month progression of gait instability. The patient reported intermittent vertigo with cranial heaviness, followed by worsening disequilibrium characterized by staggering gait resembling alcohol intoxication, accompanied by postprandial emesis 2 months ago. Cranial diffusion-weighted imaging (DWI) revealed bilateral cortical diffusion restriction in frontal, temporal, parietal, and occipital lobes, demonstrating the pathognomonic “cortical ribbon sign”. Subsequent lumbar puncture demonstrated cerebrospinal fluid (CSF) positivity for the 14-3-3 protein gamma isoform. The diagnosis of sCJD was confirmed through integration of clinical symptomatology, neurological examination, and ancillary investigations. Symptomatic and supportive treatment was initiated following diagnosis. Telephone follow-up at 30 days post-discharge revealed no significant symptomatic improvement, with eventual mortality.