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Case report
Diagnostic challenge of rapidly progressing sporadic Creutzfeldt-Jakob disease
  1. Gi Tae Kwon1 and
  2. Min Sung Kwon2
  1. 1 The Canberra Hospital, ACT Health, Canberra, Australian Capital Territory, Australia
  2. 2 Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia
  1. Correspondence to Dr Gi Tae Kwon, Gitae.kwon{at}act.gov.au

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.

  • Neurology
  • Infection (neurology)
  • Memory Disorders
  • Neuroimaging

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

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Footnotes

  • Contributors GTK: took history, examined the patient, collected data (including images) and wrote up the abstract, background, case presentation sections as well as the discussion sections. MSK: wrote up the discussion section of the case report and edited the case report.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Next of kin consent obtained.

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