scholarly journals Cardiomyopathy associated with Ceutzfeld–Jakob disease: a diagnosis of exclusion: a case report

2020 ◽  
Vol 4 (1) ◽  
pp. 1-5
Author(s):  
Osnat Itzhaki Ben Zadok ◽  
Katia Orvin ◽  
Edna Inbar ◽  
Eldad Rechavia
Keyword(s):  
Safety Concern ◽  
Brain Mri ◽  
Prnp Gene ◽  
Mortality Data ◽  
High Signal ◽  
Spongiform Encephalopathy ◽  
Diffusion Weighted Images ◽  
Jakob Disease ◽  
Magnetic Resonance Imaging Mri ◽  
Work Up

Abstract Background Creutzfeldt–Jakob disease (CJD), the most common prion disease in humans, is primarily known for its adverse neurological impact and inevitable mortality. Data regarding myocardial involvement in CJD are scarce. Case summary A 54-year-old female patient, presented with progressive effort dyspnoea, was diagnosed with unexplained non-ischaemic cardiomyopathy. An extensive cardiac work-up including cardiac magnetic resonance imaging (MRI) did not reveal any underlying aetiology. Simultaneously, the patient developed involuntary limb movements and progressive cognitive decline. Thalamic high-signal abnormalities on diffusion-weighted images were apparent on brain MRI. Based on these findings, she was subsequently referred to a neurology department, where she suddenly died the day after her admission. Brain autopsy demonstrated spongiform encephalopathy. A genetic analysis performed to her son revealed a mutation in the PRNP gene; all of these were consistent with CJD. Discussion This case describes the clinical association of CJD and cardiomyopathy and the diagnosis prion-induced cardiomyopathy by exclusion. It is not inconceivable that the coexistence of these two clinical entities may be related to genetic expression and contemporaneously deposition of infectious prions in myocardial muscle and brain tissue. Awareness of this possible association could be of important public-safety concern, and merits further collaborative cardiac-neurological work-up to elucidate this phenotype among patients with unexplained cardiomyopathy with neurological symptoms that resemble CJD.

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 Pulvinar sign in a case of anti-HU paraneoplastic encephalitis

2016 ◽  
Vol 29 (6) ◽  
pp. 436-439 ◽  
Author(s):  
Pierre-Luc Gamache ◽  
Maude-Marie Gagnon ◽  
Martin Savard ◽  
François Émond
Keyword(s):  
Magnetic Resonance Imaging ◽  
Differential Diagnosis ◽  
Magnetic Resonance ◽  
Clinical Manifestations ◽  
Resonance Imaging ◽  
Paraneoplastic Encephalitis ◽  
Jakob Disease ◽  
Magnetic Resonance Imaging Mri ◽  
Work Up

This article reports the case of a 68-year-old patient with anti-HU antibodies paraneoplastic encephalitis. The clinical manifestations were atypical and the paraclinical work-up, notably the magnetic resonance imaging (MRI) showing bilateral posterior thalamic hyperintensities (pulvinar sign), misleadingly pointed towards a variant Creutzfeld–Jakob disease. After presenting the case, the differential diagnosis of the pulvinar sign is discussed along with other important diagnostic considerations.

scholarly journals Methomyl poisoning presenting with decorticate posture and cortical blindness

2014 ◽  
Vol 6 (1) ◽  
Author(s):  
Chih-Ming Lin
Keyword(s):  
Brain Mri ◽  
Vital Signs ◽  
Altered Mental Status ◽  
Cortical Blindness ◽  
High Signal ◽  
Blurred Vision ◽  
Cerebral Disease ◽  
Cerebral Magnetic Resonance Imaging ◽  
Neurological Effects ◽  
Magnetic Resonance Imaging Mri

Methomyl is a potent pesticide that is widely used in the field of agriculture. The systemic toxic effects of methomyl have been well described. However, the neurological effects of methomyl intoxication are not well understood. In this study, we report a 61-year-old Taiwanese man sent to our emergency department because of altered mental status. His family stated that he had consumed liquid methomyl in a suicide attempt. He was provided cardiopulmonary resuscitation because of unstable vital signs. He was then sent to an intensive care unit for close observation. On the second day of admission, he regained consciousness but exhibited irregular limb and torso posture. On the sixth day, he started to complain of blurred vision. An ophthalmologist was consulted but no obvious abnormalities could be identified. On suspicion of cerebral disease, a neurologist was consulted. Further examination revealed cortical blindness and decorticate posture. Cerebral magnetic resonance imaging (MRI) was arranged, which identified bilateral occipital regions lesions. The patient was administered normal saline and treated with aspirin and piracetam for 3 weeks in hospital. During the treatment period, his symptom of cortical blindness resolved, whereas his decorticate posture was refractory. Follow-up brain MRI results supported our clinical observations by indicating the disappearance of the bilateral occipital lesions and symmetrical putaminal high signal abnormalities. In this article, we briefly discuss the possible mechanisms underlying the cerebral effects of methomyl poisoning. Our study can provide clinicians with information on the manifestations of methomyl intoxication and an appropriate treatment direction.

scholarly journals Transarterial Onyx embolization of jugular foramen dural arteriovenous fistula with spinal venous drainage manifesting as myelopathy—a case report and review of the literature

2016 ◽  
Vol 22 (5) ◽  
pp. 579-583 ◽  
Author(s):  
Hengwei Jin ◽  
Xianli Lv ◽  
Youxiang Li
Keyword(s):  
Arteriovenous Fistula ◽  
Dural Arteriovenous Fistula ◽  
Brain Mri ◽  
Venous Drainage ◽  
Jugular Foramen ◽  
Endovascular Embolization ◽  
High Signal ◽  
Resonance Imaging ◽  
Magnetic Resonance Imaging Mri ◽  
Progressive Weakness

We report a rare case of jugular foramen dural arteriovenous fistula (DAVF) with spinal venous drainage. A 48-year-old woman suffered from progressive weakness of lower extremities and incontinence of urine and feces for 14 days. Magnetic resonance imaging (MRI) revealed a tortuous posterior medullary vein at C2–T2 and ischemic signal at C2–C4 of the spinal cord. Brain MRI revealed an abnormal high signal near the left jugular foramen. Digital subtraction angiography of the spinal vascular was negative, while brain angiography showed a left jugular foramen DAVF with spinal perimedullary venous drainage. The patient recovered completely soon after endovascular embolization with Onyx-18. Diagnosis of a DAVF presenting with myelopathy is challenging. Early diagnosis and treatment are essential for a favorable outcome.

scholarly journals Transient Edematous Lesions of the Splenium in Epileptic Patients

2005 ◽  
Vol 32 (3) ◽  
pp. 352-355 ◽  
Author(s):  
Giovanna Carrara ◽  
Edoardo Ferlazzo ◽  
Donatella Tampieri ◽  
Frederick Andermann ◽  
Denis Melanson
Keyword(s):  
Antiepileptic Drugs ◽  
Case Reports ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
High Signal ◽  
Focal Lesions ◽  
Epileptic Patients ◽  
Magnetic Resonance Imaging Mri ◽  
Patients With Epilepsy

ABSTRACT:Background:Transient focal lesions in the splenium of the corpus callosum (SCC) have been previously described in patients with epilepsy or without epilepsy but receiving antiepileptic drugs (AED).Case reports:Two epileptic patients were admitted to our long-term monitoring unit. Antiepileptic drugs were completely discontinued a few days later. One patient had no seizures. The other had three attacks, the last of which occurred two days before a brain magnetic resonance imaging (MRI) was performed. In both cases brain MRI showed a lesion in the SCC characterized by high signal on T2-weighted images and no enhancement after Gadolinium infusion. The patients were discharged with their pre-admission medications. A follow-up MRI five weeks later showed resolution of the SCC lesions.Conclusions:The pathogenesis of transient SCC lesions in epileptic patients is still unclear. In our patients, either the sudden AED withdrawal or the seizures activity may be presumed to be the cause, though an individual susceptibility must also be considered.

Biology of the prion gene complex

2001 ◽  
Vol 79 (5) ◽  
pp. 613-628 ◽  
Author(s):  
Peter Mastrangelo ◽  
David Westaway
Keyword(s):  
Prion Protein ◽  
Protein Function ◽  
Prion Diseases ◽  
Mammalian Species ◽  
Prnp Gene ◽  
Spongiform Encephalopathy ◽  
Missense Mutations ◽  
Point Of Entry ◽  
Major Structural Component ◽  
Jakob Disease

The prion protein gene Prnp encodes PrPSc, the major structural component of prions, infectious pathogens causing a number of disorders including scrapie and bovine spongiform encephalopathy (BSE). Missense mutations in the human Prnp gene, PRNP, cause inherited prion diseases such as familial Creutzfeldt–Jakob Disease. In uninfected animals, Prnp encodes a GPI-anchored protein denoted PrPC, and in prion infections, PrPCis converted to PrPScby templated refolding. Although Prnp is conserved in mammalian species, attempts to verify interactions of putative PrP-binding proteins by genetic means have proven frustrating in that two independent lines of Prnp gene ablated mice (Prnp0/0mice: ZrchI and Npu) lacking PrPCremain healthy throughout development. This indicates that PrPCserves a function that is not apparent in a laboratory setting or that other molecules have overlapping functions. Shuttling or sequestration of synaptic Cu(II) via binding to N-terminal octapeptide residues and (or) signal transduction involving the fyn kinase are possibilities currently under consideration. A new point of entry into the issue of prion protein function has emerged from identification of a paralog, Prnd, with 25% coding sequence identity to Prnp. Prnd lies downstream of Prnp and encodes the Dpl protein. Like PrPC, Dpl is presented on the cell surface via a GPI anchor and has three α-helices: however, it lacks the conformationally plastic and octapeptide repeat domains present in its well-known relative. Interestingly, Dpl is overexpressed in two other lines of Prnp0/0mice (Ngsk and Rcm0) via intergenic splicing events. These lines of Prnp0/0mice exhibit ataxia and apoptosis of cerebellar cells, indicating that ectopic synthesis of Dpl protein is toxic to CNS neurons: this inference has now been confirmed by the construction of transgenic mice expressing Dpl under the direct control of the PrP promoter. Remarkably, Dpl-programmed ataxia is rescued by wt Prnp transgenes. The interaction between the Prnp and Prnd genes in mouse cerebellar neurons may have a physical correlate in competition between Dpl and PrPCwithin a common biochemical pathway that, when misregulated, leads to apoptosis.Key words: spongiform encephalopathy, neurodegenerative disease, paralogs, scrapie, CJD.

scholarly journals Cytotoxic lesion of the corpus callosum in a patient with aphasic status epilepticus

2020 ◽  
Vol 1 (1) ◽  
pp. 98-100
Author(s):  
Juan Ignacio Castiglione ◽  
Mario Emiliano Ricciardi ◽  
Catalina Bensi
Keyword(s):  
Status Epilepticus ◽  
Corpus Callosum ◽  
Brain Mri ◽  
Brain Regions ◽  
Image Resolution ◽  
High Signal ◽  
Temporal Region ◽  
Antiepileptic Treatment ◽  
Sharp Waves ◽  
Diffusion Weighted Images

A 47-year-old man with a history of aphasic seizures presented to the emergency room with a 12-hour global aphasia. Upon admission, brain MRI did not reveal acute lesions, and EEG showed sharp waves in the left frontal-temporal region. An Aphasic Status Epilepticus was diagnosed and antiepileptic treatment was initiated with adequate response. A week after the episode, a new brain MRI showed a high-signal ovoid lesion on T2-weighted and FLAIR sequences in the central part of the splenium of the corpus callosum. On diffusion-weighted images (DWI) the lesion was hyperintense with decreased apparent diffusion coefficient (ADC) values, indicating restricted diffusion consistent with a cytotoxic lesion of the corpus callosum (CLOCC). Follow-up MRI one month later showed complete image resolution. CLOCCs are secondary lesions associated with various entities in which high levels of cytokines and extracellular glutamate cause intracellular edema and reduced diffusion, a condition called cytotoxic edema, which affects vulnerable brain regions such as the splenium of the corpus callosum. In epileptic patients, CLOCCs may be due to the effect of seizures, especially prolonged ones, as well as antiepileptic treatment itself. CLOCCs are rare radiological findings and must be recognized to avoid misdiagnosis.

MM2-type sporadic Creutzfeldt-Jakob disease: new diagnostic criteria for MM2-cortical type

2020 ◽  
Vol 91 (11) ◽  
pp. 1158-1165
Author(s):  
Tsuyoshi Hamaguchi ◽  
Nobuo Sanjo ◽  
Ryusuke Ae ◽  
Yosikazu Nakamura ◽  
Kenji Sakai ◽  
...  
Keyword(s):  
Diagnostic Criteria ◽  
Sensitivity And Specificity ◽  
Disease Surveillance ◽  
Early Stage ◽  
Prion Diseases ◽  
Brain Mri ◽  
High Sensitivity ◽  
Diffusion Weighted Images ◽  
Jakob Disease ◽  
New Criteria

ObjectiveTo clinically diagnose MM2-cortical (MM2C) and MM2-thalamic (MM2T)-type sporadic Creutzfeldt-Jakob disease (sCJD) at early stage with high sensitivity and specificity.MethodsWe reviewed the results of Creutzfeldt-Jakob disease Surveillance Study in Japan between April 1999 and September 2019, which included 254 patients with pathologically confirmed prion diseases, including 9 with MM2C-type sCJD (MM2C-sCJD) and 10 with MM2T-type sCJD (MM2T-sCJD), and 607 with non-prion diseases.ResultsAccording to the conventional criteria of sCJD, 4 of 9 patients with MM2C- and 7 of 10 patients with MM2T-sCJD could not be diagnosed with probable sCJD until their death. Compared with other types of sCJD, patients with MM2C-sCJD showed slower progression of the disease and cortical distribution of hyperintensity lesions on diffusion-weighted images of brain MRI. Patients with MM2T-sCJD also showed relatively slow progression and negative results for most of currently established investigations for diagnosis of sCJD. To clinically diagnose MM2C-sCJD, we propose the new criteria; diagnostic sensitivity and specificity to distinguish ‘probable’ MM2C-sCJD from other subtypes of sCJD, genetic or acquired prion diseases and non-prion disease controls were 77.8% and 98.5%, respectively. As for MM2T-sCJD, clinical and laboratory features are not characterised enough to develop its diagnostic criteria.ConclusionsMM2C-sCJD can be diagnosed at earlier stage using the new criteria with high sensitivity and specificity, although it is still difficult to diagnose MM2T-sCJD clinically.

scholarly journals Creutzfeldt-Jakob Disease as a Cause of Cognitive Decline and Seizures in the Elderly: Diagnostic Pointers and Strategy for Investigation

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
R. Williams ◽  
F. Cresswell ◽  
M. McClure ◽  
R. Lane
Keyword(s):  
Cognitive Decline ◽  
Clinical Features ◽  
The Elderly ◽  
Postmortem Brain ◽  
High Signal ◽  
Rapid Decline ◽  
Spongiform Encephalopathy ◽  
History Of ◽  
Conscious Level ◽  
Jakob Disease

Cognitive decline affects one in twenty people over the age of 65. There is often a paucity of clues as to the underlying pathology, and while the diagnosis will usually prove to be either Alzheimer’s disease or vascular dementia, there may be clinical features suggesting rarer alternatives. This case of a 71-year-old lady with a 3-month history of progressive cognitive decline illustrates clinical features suggestive of Creutzfeltd-Jakob disease such as rapid decline in conscious level and myoclonic jerking. Diagnosis was confirmed by 3 means: (1) Electroencephalogram demonstrating periodic sharp wave complexes, (2) MRI brain showing cortical ribboning and high signal in the caudate nucleus, and (3) presence of protein S100 and protein14-3-3 in the cerebrospinal fluid. Postmortem brain histology confirmed a typical spongiform encephalopathy. Establishing an underlying aetiology is dementia is important not only for prognostic reasons but in order to detect potentially reversible causes. In cases of an atypical dementing illness our proposed investigations may assist in confirming or excluding underlying Creutzfeltd-Jakob disease.

scholarly journals Diffusion-weighted imaging: As the first diagnostic clue to Creutzfeldt Jacob disease

2012 ◽  
Vol 03 (03) ◽  
pp. 408-410
Author(s):  
Sunitha P. Kumaran ◽  
Kanchan Gupta ◽  
B. T. Pushpa ◽  
Sanjaya Viswamitra ◽  
E. V. Joshy
Keyword(s):  
Case Report ◽  
Clinical Settings ◽  
Diffusion Weighted Images ◽  
Diffusion Weighted ◽  
Jakob Disease ◽  
Rapid Cognitive Decline ◽  
Magnetic Resonance Imaging Mri ◽  
Diagnostic Clue ◽  
And Inversion

ABSTRACTWe describe a case report where the diagnosis of sporadic Creutzfeldt-Jakob disease(CJD) was suspected by the magnetic resonance imaging (MRI) radiologist in a 75-year-old lady who presented with rapid cognitive decline. MRI revealed cortical T2 and FLAIR(fluid attenuation and inversion recovery) hyperintensities in bilateral fronto-parietal and temporo-occipital locations and showed significant restriction on diffusion-weighted images(DWI). In this case report, we discuss the role of MRI to suspect the diagnosis of CJD in appropriate clinical settings.

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