ABSTRACT

Sporadic Creutzfeldt-Jakob Disease: A Case Report with emphasis on diagnostic criteria

H Hewage, (General and Acute Medicine Advanced Trainee), Timothy Ryder(FRACP), Gaurav Singh (Neurology advanced trainee)

Creutzfeldt-Jakob Disease (CJD) is the most common type of human prion disease, (1) although its incidence is not currently monitored in many parts of the world (2). CJD presents with rapidly progressing dementia and a range of neurological symptoms. Death usually occurs within one year of the onset of symptoms (3). The diagnosis is based on the relevant clinical symptoms and signs, atypical electroencephalogram (EEG) findings and the presence of the 14-3-3 protein in the cerebrospinal fluid (CSF). Recently, magnetic resonance imaging (MRI) and certain new bio-markers have played an important role in the diagnosis of CJD. Despite these developments, brain biopsy or examination of the autopsy material remains the gold standard.

We present, a 65-year-old woman of Fijian Indian background presented with rapidly progressing impairment of both cognition and mobility. She quickly progressed to akinetic mutism and was bedbound within 8 weeks. During investigation, the 14-3-3 protein was found in the CSF. Her EEG pattern showed periodic triphasic waves. Her MRI revealed hyper-intense diffusion-weighted images(DWI) as well as fluid-attenuated inversion-recovery(FLAIR) signals in the neocortex and striatum. She passed away 18 months after diagnosis. Final diagnosis was probable sporadic CJD; which fulfilled 1998 WHO criteria and MRI criteria for University of California San Francisco (UCSF) 2005. In the future, in the absence of brain biopsy, the brain MRI criteria and new bio-markers should be included for the definite diagnosis of CJD.