RESUMO
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.
Assuntos
Cobre/toxicidade , Síndrome de Creutzfeldt-Jakob/diagnóstico por imagem , Síndrome de Creutzfeldt-Jakob/fisiopatologia , Degeneração Hepatolenticular/fisiopatologia , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Comorbidade , Síndrome de Creutzfeldt-Jakob/líquido cefalorraquidiano , Eletroencefalografia , Degeneração Hepatolenticular/complicações , Humanos , Imageamento por Ressonância Magnética , MasculinoRESUMO
During the last decades, only a few cases on the association between peripheral demyelinating diseases and multiple sclerosis (MS) have been reported. We describe the case of a young man who was initially diagnosed with Bell's palsy, and only after performing a brain MRI was the diagnosis of MS made. We review the literature and discuss some pitfalls which may lead to missing the diagnosis of MS.