白静孙云闯孙葳吕鹤

伴瘙痒症状的Heidenhain变异型克雅氏病3例报告并文献复习

白静*孙云闯*孙葳*吕鹤*

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。

Heidenhain变异型克雅氏病瘙痒

【Abstract】Objective To analyze features of clinical manifestation，laboratory tests，electrophysiology and imagology of Heidenhain’s variant of Creutzfelt-Jakob disease（CJD）.Methods Clinical data，laboratory and electrophysiological results as well as medical images were collected from 3 patients with Heidenhain variant of CJD.Results Three patients 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 protein in CSF.Patients had three phases sharp waves burst at posterior part of cerebral cortices with slow waves background in EEG，no evoked P100 in visual evoked potential test，‘cortical ribbon sign’at bilateral occipital lobe in DWI sequence of head MRI and hypometabolism 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.

【Key words】Heidenhain variant of Creutzfelt-Jakob disease Pruritus

克雅氏病（Creutzfelt-Jakob disease，CJD）是最常见的人类朊蛋白病。Creutzfelt和Jakob分别于1920年和1921年报告此病。1929年，Heidenhain描述了以视觉障碍为首发症状，主要在顶叶和枕叶皮层出现海绵状改变的CJD患者［1］。1954年，MEYER等［2］将此型命名为Heidenhain变异型CJD。下面分别报告在我院收治的3例Heidenhain变异型CJD病例。

1　临床资料

1.1临床表现 例1男，67岁，山西人。主因双眼视物模糊伴走路不稳1个月余，在2012年9月21日由门诊入院。患者1个月余前双眼视物模糊，逐渐加重至看不清路。眼科检查：双眼视力下降，眼压和眼底正常，无复视和白内障。随后出现头晕、走路不稳，反应迟钝、表情减少。全身瘙痒明显，服用“开瑞坦、扑尔敏”治疗无效。记忆力快速下降，情绪低落，言语缓慢不清。……