Nikolien S van de Ven1, Jaime Vera2,3, John R Jones2,4, Sriram Vundavalli2, Basil H Ridha2. 1. Brighton and Sussex University Hospitals Trust, Royal Sussex County Hospital, Eastern Road, Brighton, BN2 5BE, UK. nikolien.vandeven@bsuh.nhs.uk. 2. Brighton and Sussex University Hospitals Trust, Royal Sussex County Hospital, Eastern Road, Brighton, BN2 5BE, UK. 3. Department of Global Health and Infection, Brighton and Sussex Medical School, University of Sussex, Brighton, UK. 4. King's College Hospital, London, UK.
Abstract
BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a rapidly progressive fatal neurodegenerative disorder. We report an unusual case of pathologically confirmed sporadic CJD developing in a HIV-positive patient but presenting with clinical and radiological features suggestive of variant CJD. CASE PRESENTATION: A 63-year-old man with chronic stable HIV developed progressive difficulties with decision-making, obsessive compulsive disorder and visual hallucinations over 3 months. CSF examination detected a weakly positive 14-3-3 protein, elevated S-100 protein, and siginificantly elevated total-Tau protein. Brain MRI revealed bilateral abnormal signal within the posterolateral thalami compatible with pulvinar sign. Further investigations revealed a negative tonsillar biospy and positive blood test consistent with variant CJD. However, prion protein genotyping detected MV heterozygosity at codon 129 and post-mortem histopathological examination was consistent with sporadic CJD. CONCLUSION: Although MRI findings were suggestive of variant CJD, the short residence in the UK and MV heterozygosity are aytpical, and the histopathological examination was consistent with sporadic CJD. With only two cases of HIV and sporadic CJD reported so far, the association of CJD with HIV remains unclear.
BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a rapidly progressive fatal neurodegenerative disorder. We report an unusual case of pathologically confirmed sporadic CJD developing in a HIV-positive patient but presenting with clinical and radiological features suggestive of variant CJD. CASE PRESENTATION: A 63-year-old man with chronic stable HIV developed progressive difficulties with decision-making, obsessive compulsive disorder and visual hallucinations over 3 months. CSF examination detected a weakly positive 14-3-3 protein, elevated S-100 protein, and siginificantly elevated total-Tau protein. Brain MRI revealed bilateral abnormal signal within the posterolateral thalami compatible with pulvinar sign. Further investigations revealed a negative tonsillar biospy and positive blood test consistent with variant CJD. However, prion protein genotyping detected MV heterozygosity at codon 129 and post-mortem histopathological examination was consistent with sporadic CJD. CONCLUSION: Although MRI findings were suggestive of variant CJD, the short residence in the UK and MV heterozygosity are aytpical, and the histopathological examination was consistent with sporadic CJD. With only two cases of HIV and sporadic CJD reported so far, the association of CJD with HIV remains unclear.
Entities:
Keywords:
Creutzfeldt–Jakob disease; Human immunodeficiency virus
Authors: Flávia Esper Dahy; Christina T G Novaes; Gabriela A Bandeira; Laís F Ramin; Augusto César Penalva de Oliveira; Jerusa Smid Journal: Rev Inst Med Trop Sao Paulo Date: 2021-03-24 Impact factor: 1.846