scholarly journals Close patient observation and electroencephalography play an important role in the diagnosis of rare diseases. Presentation of a case of Creutzfeldt-Jakob disease

2021 ◽  
Vol 21 (2) ◽  
pp. 107-110
Author(s):  
Małgorzata Wiszniewska ◽  
◽  
Andrzelika Domagalska ◽  
◽  
Keyword(s):  
Psychiatric Disorder ◽  
Common Type ◽  
Diagnostic Methods ◽  
Diagnostic Process ◽  
Spongiform Encephalopathy ◽  
Progressive Dementia ◽  
Progressive Encephalopathy ◽  
Initial Symptoms ◽  
Jakob Disease ◽  
Infectious Proteins

Creutzfeldt–Jakob disease is a rare, progressive spongiform encephalopathy caused by infectious proteins called prions. It is characterised by rapidly progressive dementia accompanied by cerebellar, visual, extrapyramidal, and pyramidal symptoms, as well as myoclonus and mutism in later stage of the disease. The most common type is sporadic Creutzfeldt– Jakob disease, accounting for 85% of all cases. Treatment of the disease is symptomatic. An important role in making the diagnosis is attributed to the observation of the patient and electroencephalography, showing characteristic cyclical discharges. We present the case of a patient whose first symptoms were psychiatric in nature, and who was diagnosed with Creutzfeldt–Jakob disease based on careful observation, presence of myoclonus, and repeated electroencephalography examinations in which typical 1–2 seconds of sharp and slow wave discharges appeared. By presenting this case of severe progressive encephalopathy, we would like to highlight the fact that even in the age of modern diagnostic methods, electroencephalography, which has been in use for many years, may be crucial in the diagnostic process. We would also like to point out that the initial symptoms of Creutzfeldt–Jakob disease may suggest a psychiatric disorder.

Prolonged, Progressive Dementia with Spongiform Encephalopathy: A Variant of Creutzfeldt-Jakob Disease?

1988 ◽  
Vol 7 (2) ◽  
pp. 56-65 ◽  
Author(s):  
Zoreh Davanipour ◽  
Milton Alter ◽  
Harry B. Coslett ◽  
Eugene Sobel ◽  
Subroto Kundu ◽  
...  
Keyword(s):  
Spongiform Encephalopathy ◽  
Progressive Dementia ◽  
Jakob Disease

scholarly journals Positron emission tomography imaging in a case of E200K mutation-related spongiform encephalopathy with non-diagnostic magnetic resonance imaging and cerebrospinal fluid testing

2017 ◽  
Vol 5 ◽  
pp. 2050313X1770034
Author(s):  
Pravin George ◽  
Christopher R Newey ◽  
Karin P Mente ◽  
Erik P Pioro
Keyword(s):  
Magnetic Resonance Imaging ◽  
Cerebrospinal Fluid ◽  
Magnetic Resonance ◽  
Spongiform Encephalopathy ◽  
Resonance Imaging ◽  
Progressive Dementia ◽  
Cerebrospinal Fluid Analysis ◽  
Fluid Analysis ◽  
Positron Emission ◽  
Jakob Disease

Objective: Creutzfeldt–Jakob disease is a rapidly progressive spongiform encephalopathy. The E200K mutation is found in a majority of genetically transmitted Creutzfeldt–Jakob disease cases. Methods: We describe the case and associated neuroimaging of an E200K-129M gene-mutation-related fatal spongiform encephalopathy with resultant clinical insomnia and thalamic changes. Results: A 46-year-old Caucasian male presented with, who was well until 2 months prior to admission, a rapidly progressive dementia followed by a change in personality with auditory and visual hallucinations. His wife noted progressively worsening jerking and other limb movements and that he kept his eyes open overnight and was “awake” at all hours. Magnetic resonance imaging, electroencephalogram and initial cerebrospinal fluid analysis were essentially non-diagnostic. Positron emission topography revealed severe bilateral thalamic hypometabolism. Posthumous cerebrospinal fluid analysis revealed abnormal PrP 27-30 protein. Autopsy confirmed prion disease and presence of the E200K-129M mutation. Conclusion: This report highlights that positron emission topography imaging may help diagnose E200K-129M mutation-related spongiform encephalopathy. In cases of non-diagnostic magnetic resonance imaging, electroencephalogram and cerebrospinal fluid studies, early positron emission topography may help in the workup of rapidly progressive dementia.

scholarly journals Inflammatory Cerebrospinal Fluid in Sporadic Creutzfeldt-Jakob Disease

2008 ◽  
Vol 35 (5) ◽  
pp. 625-629
Author(s):  
Esther Bui ◽  
Eric Ehrensperger ◽  
Demetrios J. Sahlas ◽  
Brian J. Murray ◽  
Catherine Bergeron ◽  
...  
Keyword(s):  
Immune Response ◽  
Cerebrospinal Fluid ◽  
Transmissible Spongiform Encephalopathy ◽  
Underlying Mechanism ◽  
Spongiform Encephalopathy ◽  
Progressive Dementia ◽  
Jakob Disease ◽  
Csf Pleocytosis ◽  
Inflammatory Profile ◽  
Sporadic Cjd

Background:Sporadic Creutzfeldt-Jakob disease (CJD) is a fatal, transmissible spongiform encephalopathy characterized by rapidly progressive dementia, myoclonus, ataxia and akinetic mutism. The underlying mechanism is believed to be a conformational change of a native prion protein which characteristically fails to provoke an immune response. Commensurate with the latter, cerebrospinal fluid (CSF) classically exhibits a non-inflammatory profile.Cases:We report two patients with pathologically-proven sporadic CJD presenting with a significant CSF pleocytosis.Conclusion:Although uncommon, the presence of an inflammatory CSF profile should not exclude the diagnosis of sporadic CJD.

scholarly journals Rapidly Progressing Sporadic Creutzfeldt-Jakob Disease Presenting as a Stroke

2018 ◽  
Vol 10 (3) ◽  
pp. 261-265 ◽  
Author(s):  
Maxim Oliver ◽  
Lisa Dyke ◽  
Alex Rico ◽  
Mario Madruga ◽  
Jorge Parellada ◽  
...  
Keyword(s):  
Prion Disease ◽  
Neurological Disorders ◽  
Hospice Care ◽  
Clinical Suspicion ◽  
Spongiform Encephalopathy ◽  
Medical Procedures ◽  
Human Prion Disease ◽  
Progressive Dementia ◽  
History Of ◽  
Jakob Disease

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare, fatal human prion disease that is characterized by progressive dementia and neurologic degeneration. It can mimic multiple other neurological disorders, and a high index of clinical suspicion is necessary to make a diagnosis. A 74-year-old woman with a 3-month history of a stroke and progressive neurologic deterioration was found to have sCJD. She expired within a week of her diagnosis. Autopsy revealed spongiform encephalopathy consistent with prion disease, and genetic analysis revealed 129 polymorphism and no pathologic mutation, confirming the diagnosis of nonfamilial human prion disease. No pathologic evidence of a stroke was found. Awareness of the disease by clinicians is important not only at the time of initial presentation but also during the following months. Since there is no treatment, invasive medical procedures should be limited to only those that are required for either diagnosis or hospice care.

scholarly journals Creutzfeldt-Jakob disease: case report strongly suspicious with 14- 3-3 protein missing

2021 ◽  
Author(s):  
Maria Eduarda Faur ◽  
Emily Stefhani Keil ◽  
Gabriel Augusto Corti ◽  
Maria Eduarda Angelo de Mendonça Filet ◽  
Raddib Eduardo Noleto da Nóbrega de Oliveira ◽  
...  
Keyword(s):  
Case Report ◽  
Functional Decline ◽  
Memory Loss ◽  
Brain Dysfunction ◽  
Spongiform Encephalopathy ◽  
Progressive Dementia ◽  
Normal Thyroid Function ◽  
Disease Case ◽  
Jakob Disease ◽  
Protein Research

Context: The Creutzfeldt-Jakob disease (CJd) is a rare spongiform encephalopathy caused by a prion. In clinical practice the presence of 14- 3-3 protein can be a insensitive marker of sporadic CJd, well as absent for genetic CJd and new variantes, being susceptible to false negatives. Case report: V.L, male, 57 years old, previously rigid, who presented na insidious picture of memory loss and a progressive functional decline for one month and a half. On admission, he was alert, non-contacting, with evidente myoclonus in the upper and lower members and spasticity in lower members. The picture is compatible with rapidly progressive dementia, and the hypothesis of CJd was suggested. The skull CT showed microangiopathy. Clean looking CSF, negative bacteroscopy, non-reactive VDRL, negative nanquim exam and missing 14-3-3 protein search. EEG recorded abnormal rhythm secondary to moderate diffuse and persistente encouragement of fund activity, indicating mild diffuse brain dysfunction, possibly encephalopatic. Skull MRI, signs of restriction and diffusion compromising the caudate nucleus of the putamen bilaterally and symmetrically, and the parietal córtex, predominantly the left, compatible with CJd. Patient had normal thyroid function and hypovitaminosis of mild B12, corrected with intramuscular injection. Evolved in 25 days to akinetic mutism and died in one month due to bronchial aspiration pneumonia. Conclusions: The CJd is a pathology difficult to diagnose, the 14-3-3 protein research is subject to bias, the clinical and radiological findings strongly indicate CJd.

scholarly journals Advances in Plant Disease Detection and Monitoring: From Traditional Assays to In-Field Diagnostics

Sensors ◽  
2021 ◽  
Vol 21 (6) ◽  
pp. 2129 ◽  
Author(s):  
Ilaria Buja ◽  
Erika Sabella ◽  
Anna Grazia Monteduro ◽  
Maria Serena Chiriacò ◽  
Luigi De Bellis ◽  
...  
Keyword(s):  
Emerging Diseases ◽  
Diagnostic Methods ◽  
Preventive Actions ◽  
Initial Symptoms ◽  
New Frontier ◽  
Information And Communication ◽  
Instruments And Techniques ◽  
The Difference ◽  
Asymptomatic Individuals

Human activities significantly contribute to worldwide spread of phytopathological adversities. Pathogen-related food losses are today responsible for a reduction in quantity and quality of yield and decrease value and financial returns. As a result, “early detection” in combination with “fast, accurate, and cheap” diagnostics have also become the new mantra in plant pathology, especially for emerging diseases or challenging pathogens that spread thanks to asymptomatic individuals with subtle initial symptoms but are then difficult to face. Furthermore, in a globalized market sensitive to epidemics, innovative tools suitable for field-use represent the new frontier with respect to diagnostic laboratories, ensuring that the instruments and techniques used are suitable for the operational contexts. In this framework, portable systems and interconnection with Internet of Things (IoT) play a pivotal role. Here we review innovative diagnostic methods based on nanotechnologies and new perspectives concerning information and communication technology (ICT) in agriculture, resulting in an improvement in agricultural and rural development and in the ability to revolutionize the concept of “preventive actions”, making the difference in fighting against phytopathogens, all over the world.

Sporadic Creutzfeldt-Jakob Disease: Diagnosing Typical and Atypical Presentations under Limited Circumstances

2021 ◽  
pp. 1-7
Author(s):  
Shazma Khan ◽  
Sara Khan
Keyword(s):  
Developing Countries ◽  
Brain Mri ◽  
Tertiary Care ◽  
Rapid Onset ◽  
Spongiform Encephalopathy ◽  
Care Hospital ◽  
Jakob Disease ◽  
The Central Nervous System ◽  
Missed Diagnosis ◽  
Atypical Presentations

<b><i>Introduction:</i></b> Sporadic Creutzfeldt-Jakob disease (sCJD) is a transmissible disorder of the central nervous system caused by the transformation of normal prion protein into an abnormal misfolded form. The process begins spontaneously and runs a vicious cycle to cause spongiform encephalopathy, rapidly resulting in death. Amply described in the western literature, CJD is scarcely reported in Asia due to certain limitations including missed diagnosis, under-reporting, and rarity of the disease. Brain MRI, electroencephalogram, cerebrospinal fluid testing, and biopsy of the infected brain tissue support the diagnosis in cases of clinical suspicion. However, the diagnosis can still be made with limited available resources in developing countries. <b><i>Method:</i></b> A review of CJD cases evaluated in the neurology department of a tertiary care hospital in Pakistan was done from 2002 to 2018. <b><i>Results:</i></b> Eleven cases labeled as sCJD are identified based on the European MRI-CJD consortium criteria. This is the first study on CJD from Pakistan, which includes both the typical and atypical presentations. <b><i>Conclusion:</i></b> Even with limited testing available, the diagnosis of CJD can be made with confidence in the developing countries, provided the suspicion is kept high in cases of rapid onset dementia and acute behavioral changes.

scholarly journals Presence of subclinical infection in gene-targeted human prion protein transgenic mice exposed to atypical bovine spongiform encephalopathy

2013 ◽  
Vol 94 (12) ◽  
pp. 2819-2827 ◽  
Author(s):  
Rona Wilson ◽  
Karen Dobie ◽  
Nora Hunter ◽  
Cristina Casalone ◽  
Thierry Baron ◽  
...  
Keyword(s):  
Human Health ◽  
Bovine Spongiform Encephalopathy ◽  
Prion Protein ◽  
Disease Transmission ◽  
Large Scale ◽  
Single Agent ◽  
Diagnostic Methods ◽  
Transmissible Spongiform Encephalopathies ◽  
Spongiform Encephalopathy ◽  
Human Prion Protein

The transmission of bovine spongiform encephalopathy (BSE) to humans, leading to variant Creutzfeldt–Jakob disease has demonstrated that cattle transmissible spongiform encephalopathies (TSEs) can pose a risk to human health. Until recently, TSE disease in cattle was thought to be caused by a single agent strain, BSE, also known as classical BSE, or BSE-C. However, due to the initiation of a large-scale surveillance programme throughout Europe, two atypical BSE strains, bovine amyloidotic spongiform encephalopathy (BASE, also named BSE-L) and BSE-H have since been discovered. To model the risk to human health, we previously inoculated these two forms of atypical BSE (BASE and BSE-H) into gene-targeted transgenic (Tg) mice expressing the human prion protein (PrP) (HuTg) but were unable to detect any signs of TSE pathology in these mice. However, despite the absence of TSE pathology, upon subpassage of some BASE-challenged HuTg mice, a TSE was observed in recipient gene-targeted bovine PrP Tg (Bov6) mice but not in HuTg mice. Disease transmission from apparently healthy individuals indicates the presence of subclinical BASE infection in mice expressing human PrP that cannot be identified by current diagnostic methods. However, due to the lack of transmission to HuTg mice on subpassage, the efficiency of mouse-to-mouse transmission of BASE appears to be low when mice express human rather than bovine PrP.

scholarly journals Dermoscopic aspect of verrucous epidermal nevi: New findings

2019 ◽  
Author(s):  
ÖMER FARUK ELMAS ◽  
NECMETTİN AKDENİZ
Keyword(s):  
Polarized Light ◽  
Diagnostic Methods ◽  
The Other ◽  
Diagnostic Process ◽  
Fine Scale ◽  
Epidermal Nevus ◽  
Clinical Interpretation ◽  
New Findings ◽  
Clinical Variants ◽  
Histopathological Investigation

Background and Aim: Verrucous epidermal nevi are cutaneous hamartomas having many clinical variants. Dermoscopic features of verrucous epidermal nevus have rarely been investigated. We aimed to identify dermoscopic findings of the entity which will facilitate the diagnostic process by reducing the use of invasive diagnostic methods. Material and Methods: The study included the patients with histopathologically approved verrucous epidermal nevus. Clinical, dermoscopic and histopathological features of the patients were retrospectively reviewed and the findings identified were recorded. Dermoscopic examination was performed with a polarized-light handheld dermoscope with 10-fold magnification. Results: The most common dermoscopic features were thick brown circles, thick brown branched lines and terminal hairs. The most common vessel pattern was dotted vessels. Branched thick brown lines, brown globules, brown dots forming lines, serpiginous brown dots, white and brown exophytic papillary structures, fine scale, thick adherent scale and cerebriform structures were the other findings. Conclusion: We observed many vascular and non-vascular dermoscopic findings which have not been described previously for the entity. Dermoscopic examination of the verrucous epidermal nevi may lead more reliable clinical interpretation and thus it may reduce the need for histopathological investigation. Keywords: dermoscopy, large brown circles, verrucous epidermal nevus

scholarly journals A Case of Familial Creutzfeldt-Jakob Disease Presenting with Dry Cough

2006 ◽  
Vol 33 (2) ◽  
pp. 243-245 ◽  
Author(s):  
Sandrine Larue ◽  
Steve Verreault ◽  
Peter Gould ◽  
Michael B. Coulthart ◽  
Catherine Bergeron ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Mutation Screening ◽  
Disease Onset ◽  
Visual Hallucinations ◽  
Progressive Dementia ◽  
Gene Encoding ◽  
Progressive Ataxia ◽  
Persistent Cough ◽  
Jakob Disease ◽  
Classical Triad

ABSTRACT:Background:Clinical diagnosis of Creutzfeldt-Jakob disease (CJD) is based on the classical triad of rapidly progressive dementia, myoclonus and abnormal EEG. The 200k mutation within the gene encoding PrP, located on the short arm of chromosome 20, accounts for more than 70% of families with CJD worldwide.Case Report:Herein, we report a patient who developed persistent dry cough and classical signs of CJD, including severe cognitive decline, cerebellar signs, and myoclonic jerks, leading to death a few weeks after disease onset. Mutation screening showed that he had the 200k point mutation in the PRNP gene. His mother had died twenty years earlier with neuropathologically confirmed CJD. She had presented a rapidly progressive ataxia with myoclonus, dementia, visual hallucinations, and the same persistent dry cough.Conclusions:The clinical presentation of this familial CJD case with persistent dry cough is quite unusual. Therefore, a neurological etiology should be sought when confronted with an unexplained persistent cough.

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