A 63-year-old woman who presented for orofacial dystonia showed cortical ribboning, a typical MRI finding in sporadic Creutzfeldt-Jakob disease (sCJD). However, real-time quaking-induced conversion (RT-QuIC), the most sensitive method for an early diagnosis of sCJD, was negative. She developed sCJD six months later, at which time RT-QuIC became positive. The cerebral blood flow showed a decrease in the cerebral cortex (especially in the supramarginal gyrus) consistent with cortical ribboning, but an increase in the basal ganglia, probably involved in orofacial dystonia. Cortical ribboning on MRI might be a better biomarker than RT-QuIC in the prodromal phase of sCJD.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9492486 | PMC |
| http://dx.doi.org/10.2169/internalmedicine.8354-21 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A Rapid Cognitive and Motor Decline: A Case of Misdiagnosed Sporadic Creutzfeldt-Jakob Disease.
Cureus
November 2024
Acute Medicine, Peterborough City Hospital, Peterborough, GBR.
Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disorder that leads to rapid cognitive decline, dementia, and neurological deterioration. CJD has several forms, including sporadic CJD (sCJD), which accounts for most cases, and variant CJD (vCJD), linked to exposure to bovine spongiform encephalopathy (BSE or mad cow disease). The disease is caused by abnormal prion proteins, which damage the brain and lead to death.
View Article and Find Full Text PDFRefractory status epilepticus seen in the early phase of sporadic Creutzfeldt-Jakob disease.
BMJ Case Rep
November 2024
Neurology, Northampton General Hospital NHS Trust, Northampton, Northamptonshire, UK.
Article Synopsis
- A 60-something male patient experienced worsening symptoms like confusion, paranoia, cognitive decline, and myoclonus, all while having a history of paranoid schizophrenia.
- Extensive medical tests, including blood work and brain scans (MRI), did not provide clear answers but showed abnormal brain activity and damage in specific areas.
- An electroencephalogram (EEG) revealed abnormal sharp wave discharges, indicating the patient was likely in a state of status epilepticus, a severe epileptic condition.
An Atypical Case of Creutzfeldt-Jakob Syndrome Presenting with Cacosmia and Amyloid Positivity.
J Alzheimers Dis Rep
July 2024
Department of Clinical Research in Neurology, Center for Neurodegenerative Diseases and the Aging Brain, "Pia Fondazione Cardinale G. Panico", University of Bari 'Aldo Moro', Tricase, Italy.
This report presents a challenging case of Creutzfeldt-Jakob Disease (CJD), a rare and rapidly progressing neurological disorder. The patient exhibited diverse and progressive neuro-psychiatric symptoms, including memory impairment, behavioral changes, and hallucinations associated with cacosmia. The diagnosis of CJD is complicated due to its variable clinical presentation, limited awareness, and the need for tissue pathology confirmation.
View Article and Find Full Text PDFHeidenhain Variant of Creutzfeldt-Jakob Disease: A Case Report.
Cureus
August 2024
Neurology, Advocate Lutheran General Hospital, Park Ridge, USA.
Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, fatal neurodegenerative disorder caused by an accumulation of protein-containing particles called prions in the central nervous system. The Heidenhain variant (HvCJD) is a rare subtype of CJD that presents with predominantly visual symptoms at onset. The patient presented in this case had several weeks of visual symptoms prior to hospital admission.
View Article and Find Full Text PDFIgLON5 autoimmunity in a patient with Creutzfeldt-Jakob disease: case report and review of literature.
Front Neurol
March 2024
Department of Neurology, The Second Affiliated Hospital of Guangzhou Medical University, Guangzhou, China.
Article Synopsis
- A 66-year-old man exhibited symptoms of sporadic Creutzfeldt-Jakob disease (sCJD) alongside positive IgLON5 antibodies, demonstrating unusual clinical and imaging characteristics.
- MRI findings, EEG abnormalities, and the presence of 14-3-3 protein in CSF supported the diagnosis, while matching IgLON5 antibodies were found in both serum and CSF.
- The potential link between IgLON5 autoimmunity and CJD is noteworthy, suggesting a possible interaction that could exacerbate neurodegeneration, although further investigation is needed to clarify this relationship.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!