伴瘙痒症状的Heidenhain变异型克雅氏病3例报告并文献复习

Three cases of Heidenhain variant of Creutzfelt-Jakob disease with pruritus: clinical analysis and literature review

目的分析Heidenhain变异型克雅氏病的临床、实验室、电生理和影像学特点。方法收集3例患者的临床资料、实验室检验结果、电生理和影像学资料。结果 3例患者以视觉快速下降起病,伴难治性瘙痒。PRNP全基因测序一例为E200K点突变,另两例无突变。3例脑脊液14-3-3蛋白阳性,脑电图为广泛慢波背景上后头部三相尖波发放,视觉诱发电位P100未引出,头颅MRI DWI序列上双侧枕叶皮层"缎带征"。PET/CT为从枕叶发展至广泛大脑皮层的葡萄糖低代谢。结论以视觉障碍起病,伴认知功能快速下降、共济失调和锥外体征的老年患者需要与Heidenhain变异型克雅氏病鉴别,建议行头颅MRI和EEG检查。难治性瘙痒更提示克雅氏病的可能。

Objective To analyze features of clinical manifestation, laboratory tests, electrophysiology and imagol- ogy of Heidenhain＇ s variant of Crentzfeh-Jakob disease （CJD）. Methods Clinical data, laboratory and electrophysiologi- cal results as well as medical images were collected from 3 patients with Heidenhain variant of CJD. Results Three pa- tients presented with rapid visual impairment at onset and refractory pruritus. Whole gene sequencing indicated that one patient had point mutation at E200K whereas the other two did not the mutation. All the cases had positive 14-3-3 pro- tein in CSF. Patients had three phases sharp waves burst at posterior part of cerebral cortices with slow waves back- ground in EEG, no evoked P100 in visual evoked potential test, ＇cortical ribbon sign＇ at bilateral occipital lobe in DWI sequence of head MRI and hypometaholism of glucose from occipital cortex spreading to extensive cerebral cortices in PET/CT. Conclusion Head MRI and EEG should be conducted in old patients with visual disturbance as the onset symptom, followed by rapid cognitive impairment, ataxia and extrapyramidal symptom to rule out Heidenhain variant of CJD. Refractory pruritus indicates a high likelihood of CJD.