Richard Hulej, Pavol Skáčik, Dana Žáková, Monika Koprušáková-Turčanová, Milan Grofik, Egon Kurča
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引用次数: 0
Abstract
Background: Sporadic Creutzfeldt-Jakob disease (sCJD) is a rapidly progressive prion disorder whose heterogeneous manifestations may overlap with potentially treatable neurological conditions. We report an atypical sCJD phenotype dominated by progressive dysarthria and an opsoclonus-myoclonus-ataxia-plus (OMAS-plus) phenotype, highlighting the diagnostic pitfalls relative to treatable mimics.
Case presentation: A 63-year-old man presented with progressive dysarthria and bulbar symptoms suggesting myasthenia gravis, but did not improve on pyridostigmine and progressed to right-predominant hemiataxia, acral polymyoclonus, dystonia, pyramidal signs, facial palsy, and cognitive-behavioural decline. Video-oculography showed opsoclonus, upbeat nystagmus, and abnormal saccades, raising suspicion of an immune-mediated or paraneoplastic OMAS-plus; extensive autoimmune, paraneoplastic, infectious, metabolic, and neuromuscular work-up was unrevealing, and empirical corticosteroids produced no improvement. EEG lacked periodic sharp-wave complexes and CSF 14-3-3 was negative; PRNP sequencing showed a codon 129 methionine-homozygous genotype without pathogenic mutation. Brain MRI showed cortical and basal ganglia DWI/FLAIR hyperintensities, CSF RT-QuIC was positive, and neuropathological examination, together with a type 1 PrP^Sc Western blot profile, confirmed sCJD of the MM1 subtype.
Discussion: An OMAS-plus presentation may occur in sCJD and may initially direct diagnostic reasoning towards potentially treatable disorders. Rapid progression, absent support for alternative diagnoses, characteristic MRI abnormalities, and RT-QuIC positivity should prompt consideration of prion disease even when conventional supportive markers are non-diagnostic.
散发性克雅氏病1例报告，表现为进行性肌萎缩-肌萎缩-共济失调- plus （OMAS-Plus）表型。
背景：散发性克雅氏病（sCJD）是一种快速进展的朊病毒疾病，其异质表现可能与潜在可治疗的神经系统疾病重叠。我们报告了一种以进行性构音障碍为主的非典型sCJD表型和一种负阵挛-肌阵挛-共济失调（OMAS-plus）表型，突出了相对于可治疗的模拟物的诊断缺陷。病例介绍：一名63岁男性，表现为进行性构音障碍和球症状，提示重症肌无力，但吡哆斯的明治疗没有改善，并进展为右侧偏斜、肢端多肌阵挛、肌张力障碍、锥体体征、面瘫和认知行为下降。视像眼底摄影显示眼球斜视、眼球震颤和异常扫视，提示怀疑免疫介导或副肿瘤性OMAS-plus；广泛的自身免疫、副肿瘤、感染性、代谢和神经肌肉检查未发现，经验性皮质类固醇未产生改善。脑电图缺乏周期性锐波复合体，脑脊液14-3-3阴性；PRNP测序显示密码子129为蛋氨酸纯合基因型，无致病性突变。脑MRI显示皮层和基底节区DWI/FLAIR高信号，脑脊液RT-QuIC阳性，神经病理学检查，结合1型PrP^Sc Western blot，证实了MM1亚型的sCJD。讨论：OMAS-plus表现可能出现在sCJD中，并可能最初指导对潜在可治疗疾病的诊断推理。快速进展、缺乏替代诊断支持、特征性MRI异常和RT-QuIC阳性应提示考虑朊病毒疾病，即使传统的支持标记是非诊断性的。
期刊介绍：
Prion is the first international peer-reviewed open access journal to focus exclusively on protein folding and misfolding, protein assembly disorders, protein-based and structural inheritance. The goal is to foster communication and rapid exchange of information through timely publication of important results using traditional as well as electronic formats. The overriding criteria for publication in Prion are originality, scientific merit and general interest.
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