Objective:

To describe an atypical presentation of Creutzfeldt-Jakob disease (CJD) with early onset and prolonged course associated with prior COVID-19 illness.

Background:

CJD is a uniformly fatal neurodegenerative prion disease characterized by neuropsychiatric symptoms, myoclonus, spasticity, and extrapyramidal signs. Although the sporadic form accounts for up to 90 percent of cases, genetic predispositions exist. The mean age of onset is 62 years, with death typically resulting within one year.

Design/Methods:

Case report and literature review.

Results:

A 47-year-old woman with two years of progressive neurocognitive decline, ataxia, foreign accent syndrome, audiovisual hallucinations, and paranoid delusions after 2 months of COVID-19 illness presented for management of new catatonia. She had no medical or psychiatric history prior to her COVID-19 illness. Family history included schizophrenia and autism spectrum disorder. Her exam was notable for noninteractivity, mutism, areflexia, and myoclonus progressing to waxy flexibility. Brain MRI showed diffusion restriction in the bilateral hemispheric cortices and basal ganglia. cEEG showed multifocal generalized periodic discharges at 1.5-2 Hz. CSF prion studies were sent with initial RT-Quic returning negative. Further workup was unremarkable and included an autoimmune encephalitis panel, oligoclonal bands, HSV, CMP, and thyroid studies. The remainder of the prion studies returned with marked elevations in 14-3-3 and t-tau protein. A repeat RT-QuiC was positive, confirming the diagnosis. The patient’s catatonia resolved on valproic acid, but her hospital course was complicated by aspiration pneumonia managed in the respiratory ICU. She was ultimately discharged to hospice care.

Conclusions:

Despite the high sensitivity and specificity of RT-QuiC, a negative test does not rule out CJD. Early diagnosis can facilitate timely initiation of hospice and social services. SARS-CoV-2 infection may play a role in accelerating the onset of CJD symptoms in those with predisposition for disease. More research is needed to clarify the association between COVID-19 illness and CJD.