Related or not? Development of spontaneous Creutzfeldt-Jakob disease in a patient with chronic, well-controlled HIV: A case report and review of the literature

Abstract

Background: We report a novel case of a rare disease: spontaneous Creutzfeldt-Jakob disease in a patient with well-controlled HIV. We explore the relationship between spontaneous Creutzfeldt-Jakob disease and HIV.

Case report: A 66-year-old man with long-standing, well-controlled HIV infection presented with 3 months of progressive, subacute neurocognitive decline. His symptoms included conceptual apraxia, apathy, memory impairment, and gait disturbance, and were initially attributed to depressive "pseudo-dementia." Unfortunately, the patient's symptoms rapidly progressed and he ultimately succumbed to his illness. Autopsy confirmed the clinical diagnosis of spontaneous Creutzfeldt-Jakob disease.

Discussion: This case highlights spontaneous Creutzfeldt-Jakob disease as a rare terminal illness in the setting of well-controlled chronic HIV. To our knowledge, this is the first report of a patient with chronic and previously well-controlled HIV infection dying from a prion disease. Despite the very different epidemiology and pathophysiology of HIV and spontaneous Creutzfeldt-Jakob disease, this case does raise questions of whether certain host genetic factors could predispose to both conditions, albeit currently, there is no clear causal link between HIV and spontaneous Creutzfeldt-Jakob disease.

Keywords: Creutzfeldt–Jakob disease; HIV; Prion disease; electroencephalography; encephalopathy; neurodegenerative; pathology; spongiform encephalopathy.

Figure 1.

MRI and DWI sequence (axial cuts) revealing gyriform pattern of diffusion restriction in (a) basal ganglia (caudate and putamen) and bilateral thalami, (b) caudate and along the cortex, and (c) bilateral medical cerebral hemispheres.

Figure 2.

Continuous EEG monitoring, with noted background activity consisting predominantly of 4–6 Hz activity, with initial waxing and waning periods of relative suppression for 1–3 s (not shown here) when the recording was initiated. There was no clear evidence for an occipital dominant rhythm, and definite delineation between sleep and wakefulness was not possible. There was no focal slowing, no interictal discharges, and no electrographic seizures identified.