A case of Gerstmann-Straeussler-Scheinker syndrome (GSS-P102L) mimicking variant Creurtzfeldt-Jakob disease in clinical manifestation and MRI findings

Specific language impairment (SLI) occurs when children present language maturation, at least 12 months behind their chronological age in the absence of sensory or intellectual deficits, pervasive developmental disorders, evident cerebral damage, and adequate social and emotional conditions. The aim of this study was to classify a group of children according to the subtypes of SLI and to correlate clinical manifestations with cortical abnormalities. Seventeen children with SLI were evaluated. Language assessment was based on standardized test (Peabody) and a non-standardized protocol, which included phonological, syntactical, semantical, pragmatical and lexical aspects of language. All children, except one, had abnormal MRI. Thirteen children presented perisylvian polymicrogyria. The MRI findings in the remaining three patients were: right frontal polymicrogyria, bilateral fronto-parietal atrophy, and hypogenesis of corpus callosum with Chiari I. The data show that patients with posterior cortical involvement tended to present milder form of SLI (no sign of articulatory or bucofacial praxis disturbance), while diffuse polymicrogyric perisylvian cortex usually was seen in patients who presented severe clinical manifestation, mainly phonological-syntactic deficit. In conclusion, SLI may be associated with perisylvian polymicrogyria and clinical manifestation may vary according to the extent of cortical anomaly.

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Is there a link between COVID-19 and Creutzfeldt-Jakob Disease? a Case Report

Journal of Research in Clinical Medicine ◽

10.34172/jrcm.2021.026 ◽

2021 ◽

Vol 9 (1) ◽

pp. 26-26

Author(s):

Ehsan Nasiri ◽

Amirreza Naseri ◽

Mohammad Yazdchi ◽

Mahnaz Talebi

Keyword(s):

Protein Detection ◽

Behavioral Changes ◽

Resonance Imaging ◽

Mri Findings ◽

Progressive Dementia ◽

Abnormal Signal ◽

Jakob Disease ◽

The Central Nervous System ◽

Abnormal Signal Intensity ◽

Magnetic Resonance Imaging Mri

Creutzfeldt-Jakob Disease (CJD) is a rare rapidly progressive neurodegenerative disease. The diagnosis of CJD is based on magnetic resonance imaging (MRI) findings, electro-encephalography (EEG), or 14-3-3 protein detection. We report a case of a previously-healthy 72 years old woman, with evidence of coronavirus disease 2019 (COVID-19), who complained of behavioral changes and rapidly progressive dementia. While hospitalization, she didn't have orientation to time and place and repeated an irrelevant sentence in response to questions. Also, anomia and impaired comprehension was observed. Myoclonic jerks, abnormal signal intensity at bilateral parieto-occipital cortices in MRI, periodic sharp wave complexes in EEG, and increased lactate dehydrogenase in cerebrospinal fluid (CSF), highly recommended CJD for her. This is the second case of CJD after COVID-19 during this pandemic, which can be an alarm to clinicians about the silent impact of COVID-19 on the central nervous system.

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A Case Report of Probable Creutzfeldt-Jakob Disease Based on Positive MRI Findings and the World Health Organization Criteria

Cureus ◽

10.7759/cureus.10907 ◽

2020 ◽

Author(s):

Syed Asad Ali ◽

Aushna Rasool ◽

Waseem T Malik ◽

Muhammad Tayyab Ilyas

Keyword(s):

Case Report ◽

World Health Organization ◽

World Health ◽

Mri Findings ◽

The World ◽

Jakob Disease ◽

Health Organization

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Real-time Quaking-induced Conversion Assay for the Diagnosis of Sporadic Creutzfeldt-Jakob Disease in a Living Patient

Infectious Diseases Research and Treatment ◽

10.1177/1178633719874797 ◽

2019 ◽

Vol 12 ◽

pp. 117863371987479 ◽

Cited By ~ 1

Author(s):

Vikas D Reddy ◽

Almutasem Hamed ◽

Neesha Settipalle ◽

Suraj Jande ◽

Sabih Rahman ◽

...

Keyword(s):

Real Time ◽

Prion Protein ◽

Surrogate Marker ◽

Brain Biopsy ◽

Postmortem Brain ◽

Mri Findings ◽

Progressive Dementia ◽

Ataxic Gait ◽

Clinical Criteria ◽

Jakob Disease

Creutzfeldt-Jakob disease (CJD) is the most common prion disease in humans with an incidence of one case per million inhabitants worldwide. The sporadic form of CJD (sCJD) is spontaneous and accounts for 85% of cases. Its symptoms include rapidly progressive dementia, ataxic gait, personality changes, myoclonus, coma, and eventually death. The challenging diagnosis is currently made by a combination of clinical criteria and supporting tests such as electroencephalography (EEG), magnetic resonance imaging (MRI) findings, and cerebrospinal fluid (CSF) studies. These modalities can be falsely positive or negative in some cases. Therefore, true confirmation usually requires a postmortem brain biopsy. We present a case of a 58-year-old woman who was diagnosed with sporadic form CJD by the novel Real-time Quaking-induced Conversion (RT-QuIC) assay. It is based on an ultrasensitive detection of the pathogenic prion protein in the CSF that directly detects a prion protein rather than a surrogate marker of neurodegeneration such as 14-3-3 or tau protein. The RT-QuIC assay has emerged as the most sensitive and specific CSF study to accurately diagnose sCJD in a living patient, without the need for invasive brain biopsy. The emergence of the nasal brushing RT-QuIC assay may further revolutionize the future of combating prion diseases.

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Sporadic Creutzfeldt-Jakob disease with focal findings: caveats to current diagnostic criteria

Neurology International ◽

10.4081/ni.2013.e1 ◽

2013 ◽

Vol 5 (1) ◽

pp. 1 ◽

Cited By ~ 11

Author(s):

Edward C. Mader ◽

Rima El-Abassi ◽

Nicole R. Villemarette-Pittman ◽

Lenay Santana-Gould ◽

Piotr W. Olejniczak ◽

...

Keyword(s):

Diagnostic Criteria ◽

San Francisco ◽

Brain Magnetic Resonance Imaging ◽

Brain Biopsy ◽

World Health ◽

Mri Findings ◽

Epilepsia Partialis Continua ◽

Epileptiform Discharges ◽

History Of ◽

Jakob Disease

The clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is largely based on the 1998 World Health Organization diagnostic criteria. Unfortunately, rigid compliance with these criteria may result in failure to recognize sporadic CJD (sCJD), especially early in its course when focal findings predominate and traditional red flags are not yet present. A 61-year-old man presented with a 3-week history of <em>epilepsia partialis continua</em> (jerking of the left upper extremity) and a 2-week history of forgetfulness and left hemiparesis; left hemisensory neglect was also detected on admission. Repeated brain magnetic resonance imaging (MRI) showed areas of restricted diffusion in the cerebral cortex, initially on the right but later spreading to the left. Electroencephalography (EEG) on hospital days 7, 10, and 14 showed right-sided periodic lateralized epileptiform discharges. On day 20, the EEG showed periodic sharp wave complexes leading to a diagnosis of probable sCJD and subsequently to definite sCJD with brain biopsy. Neurological decline was relatively fast with generalized myoclonus and akinetic mutism developing within 7 weeks from the onset of illness. CJD was not immediately recognized because of the patient’s focal/lateralized manifestations. Focal/lateralized clinical, EEG, and MRI findings are not uncommon in sCJD and EEG/MRI results may not be diagnostic in the early stages of sCJD. Familiarity with these caveats and with the most current criteria for diagnosing probable sCJD (University of California San Francisco 2007, MRI-CJD Consortium 2009) will enhance the ability to recognize sCJD and implement early safety measures.

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MRI findings are often missed in the diagnosis of Creutzfeldt-Jakob disease

BMC Neurology ◽

10.1186/1471-2377-12-153 ◽

2012 ◽

Vol 12 (1) ◽

Cited By ~ 31

Author(s):

Christopher Carswell ◽

Andrew Thompson ◽

Ana Lukic ◽

John Stevens ◽

Peter Rudge ◽

...

Keyword(s):

Mri Findings ◽

Jakob Disease

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New MRI findings in Creutzfeldt-Jakob disease: high signal in the globus pallidus on T 1-weighted images

Neuroradiology ◽

10.1007/s002340050744 ◽

1999 ◽

Vol 41 (4) ◽

pp. 265-268 ◽

Cited By ~ 23

Author(s):

J. A. de Priester ◽

G. H. Jansen ◽

J. R. de Kruijk ◽

J. T. Wilmink

Keyword(s):

Globus Pallidus ◽

High Signal ◽

Mri Findings ◽

Jakob Disease

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Relationship between clinical course and Diffusion-weighted MRI findings in sporadic Creutzfeldt-Jakob Disease

Neurological Sciences ◽

10.1007/s10072-008-0976-4 ◽

2008 ◽

Vol 29 (4) ◽

pp. 251-255 ◽

Cited By ~ 15

Author(s):

Sang-Hun Yi ◽

Key-Chung Park ◽

Sung-Sang Yoon ◽

Eui-Jong Kim ◽

Won-Chul Shin

Keyword(s):

Clinical Course ◽

Diffusion Weighted Mri ◽

Mri Findings ◽

Diffusion Weighted ◽

Jakob Disease ◽

And Diffusion

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Creutzfeldt-Jakob Disease Presenting with Dementia and Mimic a Stroke During One Year: Case Report and Review of Literatures

Galen Medical Journal ◽

10.31661/gmj.v8i0.1357 ◽

2019 ◽

Vol 8 ◽

pp. e1357

Author(s):

Alireza Vakilian ◽

Mohaddaseh Fekri ◽

Habib Farahmand

Keyword(s):

Differential Diagnosis ◽

Case Report ◽

Rare Disease ◽

Clinical Manifestation ◽

Clinical Presentation ◽

Chief Complaint ◽

The Other ◽

Progressive Dementia ◽

Jakob Disease ◽

One Year

Background: Creutzfeldt-Jakob disease (CJD) is a progressive and fatal prion disease in human and its annual incidence is estimated one per million. Sporadic form of CJD is the most common form of the disease that involved 85% of cases. Case Report: We presented two cases of CJD with the different clinical presentation; a 58-year-old woman who referred with amnesia, depression and a 59-year-old woman with ataxia as her chief complaint. Based on the findings and roled-out the other differential diagnosis, the CJD was confirmed. Both of them died before 12 months after diagnosis. Conclusion: Although CJD is a rare disease with different clinical manifestation, it is considered as one the differential diagnosis of progressive dementia.[GMJ.2019;8:e1357]

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