1. Diagnostic challenge of rapidly progressing sporadic Creutzfeldt-Jakob disease
- Author
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Min Sung Kwon and Gi Tae Kwon
- Subjects
0301 basic medicine ,Male ,medicine.medical_specialty ,Pediatrics ,Neurology ,Ataxia ,Autopsy ,Physical examination ,Neuroimaging ,Creutzfeldt-Jakob Syndrome ,Diagnosis, Differential ,03 medical and health sciences ,0302 clinical medicine ,Fatal Outcome ,Rare Disease ,Aphasia ,Infection (neurology) ,Medicine ,Humans ,Cognitive decline ,Medical diagnosis ,Aged ,Cerebral atrophy ,Memory Disorders ,medicine.diagnostic_test ,business.industry ,General Medicine ,medicine.disease ,030104 developmental biology ,Diffusion Magnetic Resonance Imaging ,Dementia ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
Antemortem assessment of sporadic Creutzfeldt-Jakob disease (sCJD) can be significantly hampered due to its rarity, low index of clinical suspicion and its non-specific clinical features. We present an atypical case of definitive sCJD. The patient died within 5 weeks of the disease onset. This unusually short duration of disease presented a significant diagnostic dilemma. The patient presented with 2-week history of sudden-onset cognitive decline, memory loss, aphasia and ataxia. MRI Diffusion-weighted sequences revealed cortical ribboning sign without cerebral atrophy. Protein 14-3-3 from cerebrospinal fluid (CSF) was detected, and postmortem brain autopsy confirmed the diagnosis of sCJD. This case underscores the importance of considering CJD as a potential diagnosis for rapidly progressive dementia. Serology tests, EEG, MRI and CSF study are invaluable diagnostic tools when assessing for sCJD. Appropriate use of those diagnostic tests, along with a detailed clinical examination, can successfully and promptly exclude other differential diagnoses and confirm sCJD.
- Published
- 2019