原发性进行性失语伴局灶性周期性锐波综合征:克雅氏病的异常表现

IF 2 Q3 NEUROSCIENCES
Amayak Broutian, Yuliya Shpilyukova, Alexandra Belyakova-Bodina, Anna Abramova, Olga Korepina, Rodion Konovalov
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引用次数: 0

摘要

背景克雅氏病(CJD)是一种破坏性脑退化性疾病,由一种细胞糖蛋白(即朊病毒蛋白)的异常异构体引起。CJD 的诊断通常基于特定的临床症状、脑电图和磁共振成像结果,以及脑脊液中 14-3-3 蛋白的存在。尽管终末期 CJD 通常有典型的临床表现,但早期症状可能会有变化。我们介绍了一例不常见的 CJD 病例,该病例表现为原发性进行性失语,导致被误诊为额颞叶痴呆。症状出现八个月后进行的脑电图检查发现了局灶性周期性锐波复合波,后来演变成具有 CJD 特征的弥漫性脑电图异常。脑部核磁共振成像也提示了 CJD 的诊断。后来,患者出现了快速进展性痴呆、视觉症状、共济失调、锥体外系症状,继而出现吞咽困难和缄默症,并在发病 34 个月后死亡。我们的病例之所以引人注目,还因为我们能够在失语是唯一临床表现的 CJD 阶段捕捉到局灶性周期性锐波复合体。我们的研究表明,脑核磁共振成像和清醒与睡眠脑电图都应成为原发性进行性失语患者的必备诊断检查项目。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Primary progressive aphasia with focal periodic sharp wave complexes: An unusual manifestation of Creutzfeldt-Jakob disease

Background

Creutzfeldt-Jakob disease (CJD) is a devastating degenerative brain disorder caused by an abnormal isoform of a cellular glycoprotein which is known as the prion protein. A diagnosis of CJD is usually based on specific clinical signs, EEG and MRI findings, as well as the presence of the 14–3-3 protein in the cerebrospinal fluid. Although end-stage CJD usually has a typical clinical presentation, early symptoms may be variable.

Case presentation

We present an uncommon case of CJD which manifested with primary progressive aphasia, leading to an incorrect diagnosis of frontotemporal dementia. EEG performed eight months after symptom onset revealed focal periodic sharp wave complexes that later evolved into diffuse EEG abnormalities characteristic of CJD. Brain MRI also suggested the diagnosis of CJD. Later, the patient developed rapidly progressive dementia, visual symptoms, ataxia, extrapyramidal symptoms, followed by dysphagia and mutism, and died 34 months after disease onset.

Discussion and conclusion

PPA is a relatively uncommon first manifestation of CJD, occurring only in about 1% of all CJD cases. Our case is also remarkable because we were able to capture focal periodic sharp wave complexes at the stage of the CJD when aphasia was the only clinical manifestation. We demonstrate that both brain MRI and wake and sleep EEG should be a mandatory part of the diagnostic workup for patients presenting with primary progressive aphasia.

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来源期刊
CiteScore
3.90
自引率
0.00%
发文量
47
审稿时长
71 days
期刊介绍: Clinical Neurophysiology Practice (CNP) is a new Open Access journal that focuses on clinical practice issues in clinical neurophysiology including relevant new research, case reports or clinical series, normal values and didactic reviews. It is an official journal of the International Federation of Clinical Neurophysiology and complements Clinical Neurophysiology which focuses on innovative research in the specialty. It has a role in supporting established clinical practice, and an educational role for trainees, technicians and practitioners.
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