背景散发性克雅氏病(CJD),人类朊病毒病最常见的形式,是这个类别中的原型诊断。然而,可能的诊断范围很广,包括各种可治疗的条件。缺乏标准化的诊断标准以及选择进行脑活检和临床尸检的趋势可能是达成结论性诊断的限制因素。目的本研究旨在回顾性分析转诊至神经科专科门诊的快速进行性痴呆患者的临床和调查结果。根据2018年CDC散发性CJD标准,这些患者最终被诊断为可能的散发性克雅氏病(CJD)。材料与方法本研究包括根据临床诊断的CJD病例,电生理学,以及2016年至2020年印度三级医院的影像学参数。CDC(疾病控制和预防中心)提出的诊断标准用于将患者分类为明确的,可能,或可能的CJD病例。所有患者均接受MRI(磁共振成像)成像和EEG(脑电图)记录,而由于未获得近亲的同意,没有进行诊断性脑活检。结果这项观察性描述性研究包括四名诊断为可能散发性CJD(sCJD)的患者,他们都是女性。患者在发病时的年龄范围为57至75岁,平均发病年龄为67.5岁。不幸的是,所有患者在发病后6个月内死于该疾病。快速进展性痴呆是所有病例的常见症状。此外,患者1和患者4显示肌阵鸣和肌张力障碍,患者2表现出肌阵鸣和运动障碍,病人三有肌阵挛症,舞蹈病,和共济失调.MR脑成像,包括T2序列,FLAIR序列,和DWI/ADC映射,对所有患者进行了手术,同时显示皮质灰质和深灰质(基底神经节)T2/FLAIR高强度,并限制DWI。在所有情况下都观察到皮质的带状模式。EEG结果表明,三名患者具有三相复合物的广义δ慢波,而患者3单独显示周期性的锐波复合物,频率为每1-1.5秒1。结论MRI结合DWI和ADC脑成像技术对于临床表现提示sCJD的患者是最有价值的诊断工具。在这项研究中,所有患者均表现为弥散受限,如ADC映射所证实。遗憾的是,在皮质中扩散受限的sCJD的特征,丘脑,和基底神经节通常可能会被专业中心以外的放射科医生发现,导致诊断延迟。相反,当基底神经节或皮质信号异常与实质肿胀一起被检测到时,应考虑其他诊断,如脑炎或淋巴瘤,因为实质肿胀不是MRI显示的sCJD的典型特征。
Background Sporadic Creutzfeldt-Jakob disease (CJD), the most common form of human prion disease, is the archetypal diagnosis in this category. However, the spectrum of possible diagnoses is wide, encompassing various treatable conditions. A lack of standardized diagnostic criteria and a tendency to opt for brain biopsies and clinical autopsies can be limiting factors in reaching a conclusive diagnosis. Objective This
study aims to retrospectively analyze clinical and investigative findings in patients referred to a specialized neurology clinic exhibiting rapidly progressive dementia. These patients were ultimately diagnosed with Probable sporadic Creutzfeldt-Jakob disease (CJD) based on the 2018 CDC criteria for sporadic CJD. Materials and Methods This
study included cases of CJD diagnosed based on clinical, electrophysiological, and imaging parameters at a tertiary care hospital in India from 2016 to 2020. The diagnostic criteria proposed by the CDC (Centers for Disease Control and Prevention) were employed to categorize patients as definite, probable, or possible CJD cases. All patients underwent MRI (magnetic resonance imaging) imaging and EEG ( electroencephalography) recording, while diagnostic brain biopsies were not conducted due to a lack of consent from close relatives. Results This observational descriptive
study comprised four patients diagnosed with Probable sporadic CJD (sCJD), all of whom were female. The patients exhibited an age range of 57 to 75 years at the onset of the disease, with a mean age of onset at 67.5 years. Unfortunately, all patients succumbed to the disease within 6 months of its onset. Rapidly progressive dementia was a common symptom in all cases. Additionally, patient one and patient four displayed myoclonus and dystonia, patient two exhibited myoclonus and akinetic mutism, and patient three had myoclonus, chorea, and ataxia. MR brain imaging, including T2 sequence, FLAIR sequence, and DWI/ADC mapping, was performed on all patients, revealing both cortical gray matter and deep gray matter (basal ganglia) T2/FLAIR hyperintensities with DWI restriction. A cortical ribboning pattern was observed in all cases. EEG results indicated generalized delta slow waves with triphasic complexes in three patients, while patient three alone displayed periodic sharp wave complexes at a frequency of 1 per 1 - 1.5 seconds. Conclusion MRI with DWI and ADC brain mapping emerges as the most valuable diagnostic tool for patients with clinical presentations suggesting sCJD. In this
study, all patients displayed restricted diffusion, as confirmed by ADC mapping. Regrettably, the characteristic features of sCJD with restricted diffusion in the cortex, thalamus, and basal ganglia may often elude detection by radiologists outside specialized centers, resulting in diagnostic delays. Conversely, when basal ganglia or cortical signal abnormalities are detected in conjunction with parenchymal swelling, alternative diagnoses such as encephalitis or lymphoma should be considered, as parenchymal swelling is not a typical feature of sCJD as revealed by MRI.