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Review
. 2013 Apr;72(4):136-9.

Creutzfeldt-Jakob disease: a case report and differential diagnoses

Gotaro Kojima  1 , Brent K Tatsuno, Michiko Inaba, Stephanie Velligas, Kamal Masaki, Kore K Liow
Affiliations
Review

Creutzfeldt-Jakob disease: a case report and differential diagnoses

Gotaro Kojima et al. Hawaii J Med Public Health. 2013 Apr.

Abstract

Sporadic Creutzfeldt-Jakob disease is a rare neurodegenerative disorder of unknown etiology that causes rapidly progressive dementia. This disease is uniformly fatal and most patients die within 12 months. Clinical findings include myoclonus, visual disturbances, and cerebellar and pyramidal/extrapyramidal signs in addition to rapidly progressive cognitive and functional impairment. These findings are all non-specific and it is often difficult and challenging to diagnose premortem because of low awareness and clinical suspicion. We present a 66-year-old woman with a 5-month history of rapidly progressive dementia. After a series of extensive diagnostic examinations and continuous follow-up, she was diagnosed with probable sporadic Creutzfeldt-Jakob disease based on Centers for Disease Control and Prevention (CDC) criteria, with key findings of rapidly progressive dementia, blurry vision, extrapyramidal signs (cogwheel rigidity), and abnormal hyperintensity signals on diffusion-weighted MRI. Her symptoms progressively worsened and she died 7 months after the onset. The postmortem brain autopsy demonstrated the presence of abnormal protease-resistant prion protein by Western Blot analysis. A literature review was performed on differential diagnoses that present with rapidly progressive dementia and thereby mimic sporadic Creutzfeldt-Jakob disease. These include Alzheimer's disease, dementia with Lewy Bodies, frontotemporal dementia, meningoencephalitis, corticobasal degeneration, progressive supranuclear palsy, CADASIL, and paraneoplastic encephalomyelitis.

Keywords: prion disease; rapidly progressing dementia; sporadic Creutzfeldt-Jakob disease.

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Figures

Figure 1
Figure 1
MRI diffusion-weighted images showing hyperintense signal in the cingulate gyrus.
Figure 2
Figure 2
MRI diffusion-weighted images showing restricted cortical diffusion in the bilateral parietal and posterior temporal lobes.
Figure 3
Figure 3
MRI Diffusion-weighted images showed mildly restricted diffusion in the thalami.
See this image and copyright information in PMC

References

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Supplementary concepts