国内散发性克雅病的临床特征分析

Clinical characteristics of sporadic Creutzfeldt-Jakob disease in China

目的探讨国内散发性克雅病(sCJD)的临床特征。方法在回顾性报道广州红十字会医院2019年10月诊治的1例临床很可能sCJD患者病历资料的基础上,结合中国生物医学文献数据库、中国知网及万方数据库检索获得的2009~2019年国内核心期刊公开报道的且符合2009年新版MRI-sCJD联合标准的82例临床很可能或确诊sCJD患者的个案资料进行汇总分析。结果83例患者中,78例为临床很可能sCJD,5例为确诊sCJD;男性45例,女性38例;中位年龄63(58,68)岁;有病程记录者56例,发病至死亡时间为4.3(2.9,7.0)个月;首发症状和主要症状体征呈较高的异质性和非特异性,但以进行性认知障碍、肌阵挛、共济失调、视觉障碍和无动性缄默等多见。与≤65岁的非老年患者相比,小脑症状和视觉障碍的发生率在>65岁的老年患者中明显更高,差异均有统计学意义(P<0.05)。92.4%(73/79)的患者弥散加权成像(DWI)中检出皮层和(或)基底节和(或)丘脑高信号,其中基底节受累患者比基底节未受累患者更易出现无动性缄默症状(62.5%vs.25.8%),差异有统计学意义(P<0.05)。1例患者在首发症状出现前7个月检出DWI上皮层异常高信号,4例经动态随访而临床确诊的患者显示出与临床症状和体征高对应性的脑区DWI信号变化。结论sCJD好发于中老年人,其临床症状体征、病程和DWI异常均具有较高的异质性,且后颅窝受累症状更易出现于老年患者中;DWI上的基底节受累征象可能是疾病恶化的预警信号,动态DWI随访有助于早期识别及客观反映患者的脑内病变。

Objective To analyze the clinical characteristics of domestic sporadic Creutzfeldt-Jakob disease(sCJD).Methods One patient diagnosed with probable sCJD in our hospital in October 2019 was firstly reported;the clinical data of this patient were retrospectively analyzed combining with those of 82 patients publicly reported in domestic core journals on China Biology Medicine disc,CNKI and WANFANG databases from 2009 to 2019 and met with MRI-CJD consortium criteria for sCJD.Results Of the total 83 patients,78 were diagnosed as clinically probable sCJD and other 5 as definite sCJD.There were 45 males and 38 females;the median age was 63(58,68)years.The course of disease was recorded in 56 patients,and the time from onset to death was 4.3(2.9,7.0)months.The onset and main symptoms were diverse and non-specific,however,progressive cognitive impairments,myoclonus,ataxia,visual dysfunction,akinetic mutism frequently occurred during the whole disease course.As compared with those in patients less than or equal to 65 years old,cerebellar symptoms and visual impairment occurred more frequently in patients over 65 years old(P<0.05).High diffusion weighted imaging(DWI)signals were detected on the cortex and/or the basal ganglia and/or the thalamus of 92.4%patients(73/79).Meanwhile,akinetic mutism was more likely to appear in patients with basal ganglia involvements than the unaffected ones(62.5%vs.25.8%,P<0.05).Abnormal cortical DWI high signals in one patient were detected 7 months before the appearance of first symptom,and four patients who were clinically confirmed by dynamic follow-up DWI presented clinical symptoms highly corresponding to changes in DWI signals in brain regions.Conclusions The sCJD tends to occur in the middle-aged and elderly patients,with high heterogeneity in clinical symptoms,durations and abnormal DWI signals,and symptoms caused by damage in posterior cranial fossa occur more frequently in patients over 65 years old;the DWI lesions in basal segment might be seen as a sign for deterioration of disease.Dynamic DWI follow-up may be helpful for early detection and objective reflection of sCJD intracerebral lesions.