Abstract

Background

Prion diseases are rapidly progressive fatal conditions caused by abnormally shaped proteins. Sporadic Creutzfeldt - Jakob disease (sCJD) is the most common human prion disorder accounting for 85–90 % of cases. Clinical manifestations include rapidly evolving dementia in conjunction with neurological symptoms such as ataxia, myoclonus, pyramidal and extrapyramidal signs. However, the early symptoms of the disease are often non-specific and mental disorder is delayed, making the diagnostic process difficult and challenging.

Patients and methods

We present 3 cases with atypical early symptoms and late onset of cognitive decline. The first case presented with isolated visual symptoms (Heidenhain variant), the second patient had isolated anomic aphasia and the third one non-convulsive status epilepticus. A review of the past literature concerning the atypical and rare early clinical features of the sCJD was conducted.

Results

The following manifestations were found: psychiatric and visual symptoms, which are relatively common, epileptic seizures, otologic symptoms and presentation of sCJD as an acute vascular event. Moreover, language, communication and writing impairments, movement disorders, symptoms from the peripheral nervous system and bulbar signs were reported as well.

Conclusion

Increased clinical suspicion, along with the aid of existing diagnostic methods and the development of novel techniques could contribute to a better understanding of the disease’s pathophysiology, early and accurate diagnosis and improvement of patient management.

中文翻译：

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散发性克雅氏病的非典型和早期症状：病例系列和文献复习

摘要

背景

朊病毒病是由异常形状的蛋白质引起的快速进展的致命疾病。散发性克雅氏病 (sCJD) 是最常见的人类朊病毒疾病，占病例的 85-90%。临床表现包括快速发展的痴呆症以及神经系统症状，例如共济失调、肌阵挛、锥体和锥体外系体征。然而，该疾病的早期症状往往是非特异性的，并且精神障碍被延迟，使诊断过程变得困难和具有挑战性。

患者和方法

我们提出了 3 例早期症状不典型和认知能力下降迟发的病例。第一个病例出现孤立的视觉症状（Heidenhain 变体），第二个患者有孤立性失语症，第三个患者出现非惊厥性癫痫持续状态。对过去有关 sCJD 的非典型和罕见早期临床特征的文献进行了回顾。

结果

发现了以下表现：相对常见的精神和视觉症状、癫痫发作、耳科症状和 sCJD 作为急性血管事件的表现。此外，还报告了语言、交流和书写障碍、运动障碍、周围神经系统症状和延髓征象。

结论

临床怀疑的增加，以及现有诊断方法的帮助和新技术的发展，可以有助于更好地了解疾病的病理生理学、早期和准确的诊断以及改善患者管理。