Rare histotype of sporadic Creutzfeldt-Jakob disease, clinically suspected as corticobasal degeneration

Abstract

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare neurodegenerative disease that can mimic other neurological disorders. We present a case of sCJD in a 64-year-old man that presented with corticobasal syndrome and survived for 3 years. He presented initially with dementia, hemiparkinsonism and alien limb phenomenon and was diagnosed with corticobasal degeneration, ultimately progressing to immobility and akinetic mutism. With a normal MRI 1 year before onset, his neuroimaging 1 year later revealed abnormal DaTscan, cortical and hippocampal atrophy with ventricular dilatation on MRI, and diffusion-weighted cortical ribboning and thalamic hyperintensity. Postmortem, the patient’s brain was collected by the Parkinson’s UK Tissue Bank. Prion protein immunohistochemistry revealed widespread diffuse microvacuolar staining without kuru-type plaques. Hyperphosphorylated tau was only found in the entorhinal cortex and hippocampus. This case highlights the clinical heterogeneity of sCJD presentation and the important inclusion of CJD in the differential diagnosis of atypical presentations of neurodegenerative disease.

Dressing Apraxia as Initial Manifestation of Creutzfeldt-Jakob Disease

“…However, clinical presentation mimics should be borne in mind, too. In our patient, for example, clinically an early corticobasal degeneration would have been a potential differential diagnosis after the first clinical contact [12]. In conclusion, the differential diagnosis of dressing apraxia should be expanded to include early CJD.…”

Pearls and Oy-sters: Typical Atypical Creutzfeld-Jakob Disease: A Case Presenting as a Rapidly Progressive Corticobasal Syndrome Without Dementia

“…One reported case was initially pathologically attributed to Corticobasal Degeneration (CBD), and only on post-mortem testing was confirmed as due to underlying sporadic CJD (sCJD). 5 A review of 19 cases of CBS due to confirmed CJD showed that rapidity of progression and DWI abnormalities (such as cortical ribboning)…”

“…However, CBS can also present as an atypical manifestation of CJD, which should be considered in all cases presenting with CBS. [4][5][6][7] Cases of CBS misattributed to tauopathies have been previously described in the literature. One reported case was initially pathologically attributed to CBD and only on postmortem testing was confirmed to be caused by underlying sporadic CJD (sCJD).…”

“…One reported case was initially pathologically attributed to CBD and only on postmortem testing was confirmed to be caused by underlying sporadic CJD (sCJD). 5 A review of 19 cases of CBS due to confirmed CJD showed that the rapidity of progression and DWI abnormalities (such as cortical ribboning) were key discriminators—clues—which aid in the differentiation of sCJD-CBS and CBD-CBS. Length of disease course from diagnosis to death was a median of 5 months on average for sCJD vs 48–68 months in CBD-CBS.…”

The Alien Limb Phenomenon in Creutzfeldt-Jakob Disease: A Systematic Review of Case Reports

“…The disease can be sporadic (sCJD), familial (fCJD), iatrogenic (iCJD), or variant (vCJD), in which PrP is passed to humans across a species barrier. CJD has a variety of clinical and pathological manifestations due to its many etiologies [14]. The commonly affected brain regions are the basal ganglia, cingulate gyrus, and occipital cortical areas [7,13].…”