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Case Reports
. 2020 Mar 13;17(1):35.
doi: 10.1186/s12985-020-01309-x.

A probable role of copper in the comorbidity in Wilson's and Creutzfeldt-Jakob's Diseases: a case report

Effrosyni Koutsouraki  1 , Dimitrios Michmizos  2 , Olga Patsi  3 , John Tzartos  4 , Martha Spilioti  3 , Marianthi Arnaoutoglou  3 , Magda Tsolaki  3
Affiliations
Case Reports

A probable role of copper in the comorbidity in Wilson's and Creutzfeldt-Jakob's Diseases: a case report

Effrosyni Koutsouraki et al. Virol J. .

Abstract

Background: To the best of our knowledgedd, there is currently no case in the literature reporting the comorbidity of Wilson's and Creutzfeldt-Jakob disease (CJD), linked through copper.

Case presentation: A 44-year-old male with a history of inherited Wilson's disease (hepatolenticular degeneration), which manifested as mild liver injury and psychiatric symptoms, was admitted to our department due to speech and cognitive disturbances. Upon his admission, he had motor aphasia as well as psychomotor retardation with an otherwise normal neurological examination. Laboratory tests, including liver enzymes, copper and serum ammonia were all within normal range. The brain MRI showed increased T2 signal in the caudate nuclei, attributed to copper deposition in the context of Wilson's disease. In the electroencephalogram, periodic sharp discharges were eminent, initially unilateral and then generalized. The positive 14-3-3 protein in the cerebrospinal fluid (CSF) and the new brain MRI, that demonstrated elevated DWI signal not only in the basal ganglia but also in parts of the cerebral cortex (cortical ribbon sign), all supportive of a possible CJD diagnosis. The detection of PrPSc in the patient's CSF, using the RT-QuIC method, which has a 99.4-100% specificity for CJD, made the diagnosis of CJD highly probable.

Conclusion: This is the first report of Wilson's and Creutzfeldt-Jakob diseases co-morbidity in the literature, which could evoke a possible role of copper in the pathogenesis of CJD.

Keywords: Copper; Creutzfeldt-Jakob disease; Prion protein; Spongiform encephalopathy; Wilson’s disease.

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Conflict of interest statement

JT is a shareholder in the research and diagnostic laboratory Tzartos NeuroDiagnostics. All other authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Brain MRI revealed increased DWI and T2 signal in the caudate nuclei (left>right)
Fig. 2
Fig. 2
EEG: Lateralized periodic discharges -LPDs stopped by intravenous benzodiazepines
Fig. 3
Fig. 3
Second brain MRI showing increased DWI and T2 (FLAIR) signal in basal ganglia and cerebral cortex (cortical ribbon sign)
Fig. 4
Fig. 4
New EEG showed periodic sharp wave complexes (PSWC) suggesting CJD
See this image and copyright information in PMC

References

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