Department of Pathology, Danish Reference Center for Prion Diseases, Copenhagen University Hospital, 2100 Copenhagen, Denmark.
IRCCS Istituto delle Scienze Neurologiche di Bologna, Ospedale Bellaria, 40123 Bologna, Italy.
Viruses. 2021 Oct 14;13(10):2061. doi: 10.3390/v13102061.
In the present manuscript, we report the clinical presentation and challenging diagnostic work-up of a sporadic Creutzfeldt-Jakob disease patient with confirmed VV1 subtype and heterozygous 1-octapeptide repeat deletion in the prion protein gene. The described patient was a 58-year-old woman. Interestingly, most of the reported patients with the VV1 subtype to date are men with an average age of 44 years at disease onset. The patient was observed clinically from symptoms onset until her death 22 months later. This report describes the patient's insidious clinical evolution and the paraclinical examinations and pathology reports gathered at different time points of disease progression. Unfortunately, the absence of typical clinical and paraclinical features of classic sporadic Creutzfeldt-Jakob disease made the brain biopsy surgery necessary. This case report illustrates the diagnostic difficulties posed by the phenotypic heterogeneity of sporadic Creutzfeldt-Jakob disease and urges clinicians to consider this diagnosis even in patients who do not fulfil the typical clinical disease criteria. Furthermore, it highlights the need for real-time quaking-induced conversion method adaptation for detection of rare sporadic Creutzfeldt-Jakob disease subtypes with certain prion protein gene variants.
在本手稿中，我们报告了一例散发性克雅氏病患者的临床表现和具有挑战性的诊断过程，该患者经证实为 VV1 亚型，朊蛋白基因中存在杂合的 1 个八肽重复缺失。所描述的患者是一位 58 岁女性。有趣的是，迄今为止报告的大多数 VV1 亚型患者均为男性，发病时的平均年龄为 44 岁。该患者从症状出现开始接受临床观察，直至 22 个月后死亡。本报告描述了患者隐匿的临床演变以及在疾病进展的不同时间点收集的临床和病理学检查结果。不幸的是，由于缺乏经典散发性克雅氏病的典型临床和临床特征，有必要进行脑部活检手术。该病例报告说明了散发性克雅氏病表型异质性带来的诊断困难，并敦促临床医生即使在不符合典型临床疾病标准的患者中也考虑该诊断。此外，它还强调了需要针对具有特定朊蛋白基因突变的罕见散发性克雅氏病亚型进行实时震颤诱导转化方法的适应性调整。
