散发性Creutzfeldt-Jakob病的临床、病理及影像学研究

Study on clinic, pathology and image of sporadic Creutzfeldt-Jakob disease

目的 探讨散发性Creutzfeldt Jakob病(sCJD)的临床、病理及影像学特点。方法 回顾性分析 12例sCJD患者的临床表现、脑电图(EEG)、影像学特点及病理资料。结果 (1)本组男7例,女5例,平均发 病年龄49岁;3例以视觉缺失急性起病,9例以智能下降,精神、行为异常或共济失调亚急性起病;12例均有 痴呆、肌阵挛和锥体外系体征。(2)9例脑电图(EEG)表现典型的、1例表现不典型的三相波,(3)12例头颅 MRI检查,5例出现双侧基底节区T2加权像WI对称性高信号;8例同时行弥散加权(DWI)扫描,均表现为额 叶或/和枕叶DWI高信号,并有5例伴双侧基底节区对称性DWI高信号。(4)1例尸检及6例脑活检均具备 CJD病理特点。结论 sCJD在具备典型临床表现基础上,动态EEG及头颅MRIDWI扫描可为CJD的早期临 床诊断提供依据。

Objective To investigate the clinical, pathological and imaging features of sporadic Creutzfeldt-Jakob disease (CJD). Methods The clinical, pathological, electroencephalogram (EEG) and imaging data of 12 cases of CJD were analyzed retrospectively.Results (1) 7 cases of the enrolled patients were male and 5 were female. The average onset age of them was 49 years old. 3 cases were acute onset by visual loss and 9 cases were subacute onset by hypophrenia, mental and behavior disorder or cerebellar ataxia. All the cases showed dementia, myoclonus and extrapyramidal sign. (2) 9 cases showed typical triphasic wave on EEG and 1 case presented atypical triphasic wave. (3) 5 cases showed abnormal hyperintense lesions in basal ganglia on T 2-weighted images (T 2WI). 8 cases in occipital and/or frontal cortex showed the abnormal hyperintense lesions on diffusion-weighted images (DWI), and 5 of them accompanied symmetric diffuse hyperintense lesions in basal ganglia. (4) 1 case with postmortem and 6 cases with biopsy of brain showed classic pathological features of CJD.Conclusion On the base of typical clinic manifestations, EEG and DWI examinations are useful in early diagnosis of sporadic CJD.