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.

• Authors: Bension Shlomo Tilley, Colin Smith, Nicola Pavese, Johannes Attems
• Journal: BMJ case reports (BMJ Case Rep) Vol. 12 Issue 3 (Mar 07 2019) ISSN: 1757-790X [Electronic] England
• PMID: 30850568 (Publication Type: Case Reports, Journal Article)
• Copyright: © BMJ Publishing Group Limited 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

Chemical References

• Prion Proteins

Topics

• Autopsy
• Basal Ganglia Diseases (diagnosis, pathology)
• Brain (metabolism, pathology, ultrastructure)
• Creutzfeldt-Jakob Syndrome (diagnosis, drug therapy, pathology)
• Dementia (diagnosis)
• Diagnosis, Differential
• Diffusion Magnetic Resonance Imaging (methods)
• Fatal Outcome
• Humans
• Male
• Middle Aged
• Neuroimaging (methods)
• Prion Proteins (metabolism)
• Rare Diseases
• Spinocerebellar Degenerations (diagnosis, pathology)
• Thalamus (diagnostic imaging)