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

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Auteur
Koutsouraki E., Michmizos D., Patsi O., Tzartos J., Spilioti M., Arnaoutoglou M., Tsolaki M.
Date
2020
Language
en
DOI
10.1186/s12985-020-01309-x
Sujet
benzodiazepine derivative
ceruloplasmin
copper
levetiracetam
methylprednisolone
prion protein
stratifin
copper
adult
aphasia
Article
ataxic aphasia
bipolar disorder
case report
caudate nucleus
ceruloplasmin blood level
clinical article
clinical feature
cognitive defect
comorbidity assessment
consciousness level
Creutzfeldt Jakob disease
death
disease severity
drug megadose
electroencephalogram
emergency health service
epileptic state
familial disease
family history
general condition deterioration
Glasgow coma scale
hospital admission
human
liver injury
male
mental disease
metabolic fingerprinting
mutismus
nuclear magnetic resonance imaging
pathogenesis
polymerase chain reaction
protein analysis
protein cerebrospinal fluid level
psychomotor retardation
repeat procedure
spatiotemporal analysis
tendon reflex
treatment response
Wilson disease
brain
cerebrospinal fluid
comorbidity
complication
Creutzfeldt Jakob disease
diagnostic imaging
electroencephalography
pathology
pathophysiology
Wilson disease
Adult
Brain
Comorbidity
Copper
Creutzfeldt-Jakob Syndrome
Electroencephalography
Hepatolenticular Degeneration
Humans
Magnetic Resonance Imaging
Male
BioMed Central Ltd.
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Résumé
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. © 2020 The Author(s).
URI
http://hdl.handle.net/11615/75442
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  • Δημοσιεύσεις σε περιοδικά, συνέδρια, κεφάλαια βιβλίων κλπ. [19735]

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    SARS-CoV-2 pathophysiology and its clinical implications: An integrative overview of the pharmacotherapeutic management of COVID-19 

    Tsatsakis A., Calina D., Falzone L., Petrakis D., Mitrut R., Siokas V., Pennisi M., Lanza G., Libra M., Doukas S.G., Doukas P.G., Kavali L., Bukhari A., Gadiparthi C., Vageli D.P., Kofteridis D.P., Spandidos D.A., Paoliello M.M.B., Aschner M., Docea A.O. (2020)
    Common manifestations of COVID-19 are respiratory and can extend from mild symptoms to severe acute respiratory distress. The severity of the illness can also extend from mild disease to life-threatening acute respiratory ...
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