Characteristics of Creutzfeldt-Jakob disease at Siriraj Hospital, Thailand: Case series and literature review

Abstract

Introduction: Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, fatal, neurodegenerative disease classified as prion diseases. There are many subtypes of this disease, but information about clinical presentation and investigation findings in Thailand is scarce. Objective: To describe the clinical presentation, radiological and electroencephalographic characteristics of CJD encountered at Siriraj hospital in the past 10 years (between January 1, 2006 and December 31, 2015). Materials and Methods: This was descriptive epidemiological data (retrospective, observational study). Patients with rapidly progressive dementia who met the diagnostic criteria for sporadic CJD (sCJD) and variant CJD (vCJD) were included. All were investigated in detail to find any other possible treatable cause including brain magnetic resonance imaging (MRI), electroencephalography (EEG), and cerebrospinal fluid (CSF) analysis. Results: Of the 18 cases, they were classified as sCJD 15 cases and possible vCJD 3 cases. The mean age of the patients was 60.72 years (range: 24‐77) and 10 patients were male. The main clinical manifestations were cognitive disturbance (100 %) and myoclonus (14 out of 18 cases, 77 %). Brain imaging abnormalities were observed in 17 patients: Hyperintensities in diffusion weight imaging (DWI) in the cortical regions (temporal, parietal, and occipital) were observed in 94 % of the patients. Classical EEG of periodic epileptiform discharges were observed in 83.33 % of patients. Conclusions: CJD is a rare but fatal disease that needs to be considered in the patient with cognitive, neuropsychiatric, and movement disorders. Findings of specific abnormalities on brain imaging and/or EEG can support the diagnosis in suspicious cases.