scholarly journals An Evaluation of Rapidly Progressive Dementia Culminating in a Diagnosis of Creutzfeldt–Jakob Disease

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Parmvir Parmar ◽  
Curtis L. Cooper ◽  
Daniel Kobewka

Rapidly progressive dementia is a curious and elusive clinical description of a pattern of cognitive deficits that progresses faster than typical dementia syndromes. The differential diagnosis and clinical workup for rapidly progressive dementia are quite extensive and involve searching for infectious, inflammatory, autoimmune, neoplastic, metabolic, and neurodegenerative causes. We present the case of a previously highly functional 76-year-old individual who presented with a 6-month history of rapidly progressive dementia. His most prominent symptoms were cognitive impairment, aphasia, visual hallucinations, and ataxia. Following an extensive battery of tests in hospital, the differential diagnosis remained probable CJD versus autoimmune encephalitis. He clinically deteriorated and progressed to akinetic mutism and myoclonus. He passed away 8 weeks after his initial presentation to hospital, and an autopsy confirmed a diagnosis of sporadic CJD. We use this illustrative case as a framework to discuss the clinical and diagnostic considerations in the workup for rapidly progressive dementia. We also discuss CJD and autoimmune encephalitis, the two main diagnostic possibilities in our patient, in more detail.

Author(s):  
Sandrine Larue ◽  
Steve Verreault ◽  
Peter Gould ◽  
Michael B. Coulthart ◽  
Catherine Bergeron ◽  
...  

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.


2016 ◽  
Vol 4 (2) ◽  
pp. 72-75
Author(s):  
Arthur Joseph ◽  
Jacob Core ◽  
Daniel Solano ◽  
Marquand Patton ◽  
Shaun Smart

Background: Creutzfeldt-Jakob disease (CJD) is a prion disease characterized by misfolded proteins that lead to neurodegeneration and inevitable death. Classic sporadic CJD presents primarily with cognitive symptoms and ataxia without visual impairment at the onset of the illness. Seizure activity is a rare presentation of patients with sporadic CJD. Case: We present a rare case of rapidly progressive encephalopathy in a 57-year-old female who presented to the emergency department with bizarre behavior and vision deterioration. Imaging was unrevealing, and infectious and organic causes were ruled out. Electroencephalogram showed evidence of encephalopathy and non-convulsive status epilepticus. Magnetic resonance imaging conducted later displayed high signal intensity in centrum ovale. The patient’s history, results from diagnostic analyses, and clinical presentation suggested the diagnosis of CJD (sporadic type). Conclusion: Due to the low incidence and varying clinical presentations, it is difficult to include CJD in a differential diagnosis without specific analytic measures. However, for the benefit of the patient and healthcare resources, CJD needs to be quickly considered when rapid neurological decline or non-convulsive status epilepticus is not suggestive of another entity


2021 ◽  
Author(s):  
Lucas de Oliveira Pinto Bertoldi ◽  
Beatriz Cassarotti ◽  
Isabela Silva Souza ◽  
Alana Strucker Barbosa ◽  
Eduardo Silveira Marques Branco ◽  
...  

Context: Creutzfeld Jakob disease, a rare prion disease that leads to rapidly progressive dementia and movement disorders, through its pathophysiology will determine brain damage. Regardless of the cause, the course of the disease will be rapid and will invariably lead to death. Objective: The reason why the case is described is due to the low incidence of this disease and its unusual course in the case described. Case report: A 67-year-old male, had a personal history of smoking and obesity . Referred to our service due to sudden ataxia, in the presence of an unchanged MRI scan. The first sympton started when he woke up with a dizzying and inability to walk due to imbalance. In the initial assessment, the patient had appendicular ataxia in all 4 limbs, with an examination of his mental status without changes. New head MRI exam showing alterations compatible with CJD. Interned with hipotheses diagnoses of Wilson’s disease, encephalitis or CJD, he developed abdominal distension with surgical need and immediately after the procedure he already presented a comatose, spastic, and myoclonic condition compatible with the final phase of CJD, later protein 14-3-3 was found in the CSF. Conclusions: CJD, usually presents with rapidly progressive cognitive deficit associated with movement disorder. In the case presented, initially there was no change in cognition and after an urgent surgical procedure, there was an important advance in a shorter than expected period for the disease.


2015 ◽  
Vol 89 (7) ◽  
pp. 3939-3946 ◽  
Author(s):  
Atsushi Kobayashi ◽  
Piero Parchi ◽  
Masahito Yamada ◽  
Paul Brown ◽  
Daniela Saverioni ◽  
...  

ABSTRACTThe genotype at polymorphic codon 129 of thePRNPgene has a profound influence on both phenotypic expression and prion strain susceptibility in humans. For example, while the most common sporadic Creutzfeldt-Jakob disease (CJD) subtype, sporadic CJD-MM1 (M1 strain), induces a single phenotype after experimental transmission regardless of the codon 129 genotype of the recipient animal, the phenotype elicited by sporadic CJD-VV2 (V2 strain), the second most common subtype, varies according to the host codon 129 genotype. In particular, the propagation of the V2 strain in codon 129 methionine homozygotes has been linked only to acquired forms of CJD such as plaque-type dura mater graft-associated CJD (dCJD), a subgroup of iatrogenic CJD with distinctive phenotypic features, but has never been observed in sporadic CJD cases. In the present report, we describe atypical CJD cases carrying codon 129 methionine homozygosity, in a neurosurgeon and in a patient with a medical history of neurosurgery without dural grafting, showing the distinctive phenotypic features and transmission properties of plaque-type dCJD. These findings raise the possibility that the two cases, previously thought to represent sporadic CJD, might actually represent acquired CJD caused by infection with the V2 strain. Thus, careful analyses of phenotypic features and transmission properties in atypical cases may be useful to distinguish acquired from sporadic cases of CJD.IMPORTANCESusceptibility to and phenotypic expression of Creutzfeldt-Jakob disease (CJD) depend on both the prion strain and genotype at polymorphic codon 129 of thePRNPgene. For example, propagation of the second most common sporadic CJD strain (V2 strain) into codon 129 methionine homozygotes has been linked to plaque-type dura mater graft-associated CJD (dCJD), a subgroup of iatrogenic CJD with distinctive phenotypic features, but has never been observed in sporadic CJD. In the present report, we describe atypical CJD cases in a neurosurgeon and in a patient with a medical history of neurosurgery without dural grafting, showing the distinctive phenotypic features and transmission properties of plaque-type dCJD. These findings raise the possibility that the two cases, previously considered to represent sporadic CJD, might actually represent acquired CJD caused by infection with the V2 strain.


2015 ◽  
Vol 46 (1) ◽  
pp. 1-8
Author(s):  
Joseph Y. Abrams ◽  
Ryan A. Maddox ◽  
Lawrence B. Schonberger ◽  
Ermias D. Belay

Background/Aims: To assess the frequency and characteristics of intracranial procedures (ICPs) performed and the number of US residents living with a history of ICP. These data are used to calculate the expected annual number of sporadic Creutzfeldt-Jakob disease (CJD) cases among US residents with a history of ICP. Methods: The Nationwide Inpatient Sample provided data on the frequency and types of ICPs, and data from the National Center for Health Statistics was used to produce age-adjusted mortality rates. A model was constructed, which estimated long-term survival and sporadic CJD rates among ICP patients based on procedure type and age. Results: There were an estimated 2,070,488 ICPs in the United States from 1998 to 2007, an average of over 200,000 per year. There were an estimated 2,023,726 US residents in 2013 with a history of ICP in the previous 30 years. In 2013, there was expected to be 4.1 sporadic CJD cases (95% CI 1-8) among people with a history of ICP in the past 30 years. Conclusions: The considerable proportion of US residents living with a history of ICP is important information for retrospective assessments of CJD or any other suspected long-term outcome of ICPs.


Author(s):  
Esther Bui ◽  
Eric Ehrensperger ◽  
Demetrios J. Sahlas ◽  
Brian J. Murray ◽  
Catherine Bergeron ◽  
...  

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.


2018 ◽  
Vol 10 (3) ◽  
pp. 261-265 ◽  
Author(s):  
Maxim Oliver ◽  
Lisa Dyke ◽  
Alex Rico ◽  
Mario Madruga ◽  
Jorge Parellada ◽  
...  

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.


2015 ◽  
Vol 86 (11) ◽  
pp. e4.186-e4
Author(s):  
Maruthi Ravi Vinjam ◽  
Steven Butterworth ◽  
Richard Davey

A 64 yr old right-handed mechanic presented with four weeks history of clumsy right hand with ongoing problems at work. He described stiffness and problems with co-ordination. At the time of presentation he was noted to be walking with his right arm behind him and not being aware of this. His initial examination showed Mini Mental Score of 26/30, with ongoing involuntary movements of his right arm (Video).Video shows spontaneous elevation of right arm with occasional myoclonic jerks. Video also demonstrates patient's difficulty in following simple motor tasks and his comments that his arm “has a mind of its own”.His MRI head (Figure 1) showed typical cortical ribboning pattern described in sporadic CJD and CSF Protein for 14-3-3, s100b and RT-QUIC findings were consistent with the diagnosis of CJD.Over next 4 weeks his cognitive function rapidly deteriorated with progressive worsening of his myoclonus. He died 4 weeks after his hospital discharge.There are three broad varieties of alien limb phenomenon (ALP) types described in the literature, frontal, callosal and sensory. Jerky (myoclonic) ALP is well described in patients with CJD, so CJD should be in the differentials in any patient presenting with sub-acute onset of ALP.


2019 ◽  
Vol 8 ◽  
pp. e1357
Author(s):  
Alireza Vakilian ◽  
Mohaddaseh Fekri ◽  
Habib Farahmand

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]  


Author(s):  
Eduardo Sugizaki ◽  
Rosangela Barbiani ◽  
Fabiane Asquidamini

ABSTRACTIn this article, a new history of medical knowledge on Carrion's disease is presented. In a preliminary review of historiography (since 1885), we have found the following narrative nucleus (still repeated today): 1) until 'Oroya fever' appeared (1871), only an eruptive disease, the Peruvian wart, was known; 2) in 1875, Peruvian physicians proposed that Peruvian wart and Oroya fever should be the same disease; 3) in 1885, Daniel Carrión succeeded in experimentally unifying the clinical conditions when he inoculated blood from a patient of Peruvian wart in himself and died of Oroya fever; and 4) the disease was then renamed as 'Carrion's disease'. Herein, we question some of the foundations of this traditional version. The medical literature published in English, German, and French show that a global clinical description of the disease was already known in the period 1842-1871. Only the medical literature published in Spanish described the illness as an afebrile dermatosis. Obstacles to the knowledge of the disease were also found, which explain such divergence. Diversity and inconstancy of general and local symptoms (such as fever and eruptions, respectively): 1) made it difficult a comprehensive understanding of manifestations; 2) suggesting a constant complication of malaria; 3) and precluding analogy with eruptive fevers. Differently from what the traditional version suggests, these obstacles were overcome previously and independently from the appearance of the spurious notion of 'Oroya fever'. Overcoming of such obstacles was not achieved by unification of both diseases, but by perception of a coordination of manifestation of heterogeneous symptoms. Such rationalism allowed integration of symptoms that a shallow empiricism kept separated as isolated pathological phenomena, favoring clinical differential diagnosis between Peruvian wart and malaria. This epistemological study contributed to a greater understanding of mechanisms of building of nosologic unity in the Clinical Age of medicine.RESUMENNeste artigo, uma nova história do conhecimento médico sobre a doença de Carrión é construída. Em uma preliminar revisão da historiografia (existente desde 1885), encontramos o seguinte núcleo narrativo (ainda reiterado, atualmente): 1) até o surgimento da ‘febre de Oroya’, em 1871, conhecia-se apenas uma doença eruptiva, a verruga peruana; 2) em 1875, a medicina peruana propôs que a verruga peruana e a febre de Oroya deviam ser a mesma doença; 3) em 1885, Daniel Carrión conseguiu experimentalmente unificar os quadros clínicos quando inoculou em si mesmo sangue de um paciente com verruga peruana e morreu com febre de Oroya; 4) a enfermidade passou a denominar-se ‘doença de Carrión’. Este artigo questiona alguns dos fundamentos desta versão tradicional. A literatura médica publicada em inglês, alemão e francês mostra que, entre 1842 e 1871, já existia a descrição clínica global da doença. Apenas a literatura médica publicada em espanhol descrevia a doença como dermatose apirética. Descobriram-se também os obstáculos ao conhecimento da doença, que explicam esta divergência. A disparidade e a inconstância dos seus sintomas, os gerais e os locais (tal como febre e erupções, respectivamente): 1) dificultavam a compreensão global de suas manifestações; 2) sugeriam uma complicação constante do paludismo; 3) e barravam a analogia com as febres eruptivas. Diferentemente do que propõe a narrativa tradicional, estes obstáculos foram superados antes e independentemente do aparecimento da noção espúria de ‘febre de Oroya’. A superação não veio pela unificação de duas doenças, mas pela percepção de uma coordenação na manifestação dos sintomas heterogêneos. Este racionalismo conseguiu integrar sintomas que um empirismo raso apartava, como fenômenos patológicos isolados, e encaminhar o diagnóstico diferencial clínico entre a verruga e o paludismo. O saldo epistemológico deste trabalho é uma maior compreensão dos mecanismos da construção da unidade nosológica, na Idade Clínica da medicina.


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