Clinical characterization of seven cases of sporadic Creutzfeldt-Jakob disease
10.3760/cma.j.cn112866-20241101-00157
- VernacularTitle:7例散发性克雅病临床特征分析
- Author:
Pankui LI
1
;
Le CHANG
;
Tingting YANG
;
Jing ZHOU
;
Yixin GU
;
Zhenhai WANG
Author Information
1. 宁夏医科大学＋第一临床医学院，银川 750000
- Publication Type:Journal Article
- Keywords:
Sporadic Creutzfeldt-Jakob disease;
Rapidly progressive dementia;
Cerebrospinal fluid 14-3-3 protein;
PRNP sequence
- From:
Chinese Journal of Experimental and Clinical Virology
2025;39(3):366-369
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical data of seven patients with a clinical diagnosis of likely sporadic Creutzfeldt-Jakob disease (sCJD) in order to improve the understanding and diagnosis of sporadic Creutzfeldt-Jakob disease.Methods:The clinical data of 7 sCJD patients admitted to the Department of Neurology of Our Hospital from 2021 to 2023 were retrospectively analyzed.Results:All seven patients had a subacute onset of disease, and the main clinical features included rapidly progressive dementia (RPD), cerebellar symptoms, pyramidal signs, myoclonus and akinetic mutism. Magnetic resonance diffusion-weighted imaging (DWI) reveals widespread asymmetrical lace-like high signal distributed along the cortex and a basal curved ball-and-stick sign. Electroencephalography (EEG) shows diffuse spiking and spiking slow waves, and periodic triphasic waves in advanced stages of the disease. Cerebrospinal fluid 14-3-3 protein testing was performed in 6 of the 7 patients, and 4 were positive. Four patients died within six months of onset of illness.Conclusions:The disease is prevalent in middle-aged and elderly patients, with a non-significant male-to-female ratio, and is dominated by the presence of Rapidly Progressive Dementia (RPD), especially the presence of cortical high signals in the DWI sequences and diffuse sharp and slow wave issuance in the electroencephalograph (EEG), which need to be alerted to the occurrence of Creutzfeldt-Jakob Disease. Dynamic review of MRI, EEG, cerebrospinal fluid 14-3-3 protein, prion protein gene (PRNP) sequence analysis and cerebrospinal fluid prion real-time vibration-induced protein amplification (RT-QuIC) monitoring whenever possible to avoid misdiagnosis, under-diagnosis, and under-recognition.
