A case of sporadic Creutzfeldt – Jakob disease and discussion on diagnostic biomarkers

Roman-Filip, Corina; Ungureanu, Aurelian; Filip, Dan; Radu, Eugen; Zaharie, Ioan-Sorin

doi:10.2478/rrlm-2013-0001

Cited by 3 publications

(2 citation statements)

References 21 publications

(22 reference statements)

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“…RPD with an average duration of as little as six months has been seen as a constant finding. Patients invariably developed coma and succumbed to the illness over several months [13].…”

Section: Discussionmentioning

confidence: 99%

Rapidly Progressive Dementia in an Elderly Male: Perseverance Becomes the Key to a Rare Diagnosis

Negi,

Prabhu

2023

Cureus

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Cognitive impairment in a patient with rapidly progressive dementia (RPD) develops faster than expected for a known dementia syndrome. It poses as a diagnostic challenge for the physician who must identify the diagnosis among a broad spectrum of differentials. Here, we discuss the case of a 60-year-old male who presented with a four-month history of progressive gait disturbance, incoherent talking, dysarthria, hand tremors, and new-onset bladder incontinence. Neurological examination revealed fast saccades, cerebellar dysarthria, hypertonia, and normal power in all four limbs, brisk reflexes, past pointing, intentional tremors, resting myoclonic jerks, and ataxic gait. Initial differentials of progressive paraneoplastic encephalitis, infectious encephalitis, and toxic encephalopathy were considered. However, the results of lumbar puncture and blood investigations-voltage-gated potassium channel (VGKC) antibody and Nmethyl-D-aspartate (NMDA) receptor antibody, tumor markers, viral markers being negative and ammonia and lactate levels being normal led us to think of another possibility. With such rapidly progressive dementia, myoclonic jerks, extrapyramidal signs, and cerebellar signs, a diagnosis of Creutzfeldt-Jakob disease (CJD) was taken into consideration. A cerebrospinal fluid (CSF) sample was sent for CSF protein 14-3-3 quantification by enzyme-linked immunosorbent assay (ELISA) and came out positive. During his stay in the hospital, our patient developed multiple complications, and his clinical state progressively worsened. With no signs of improvement and the known fatal nature of the disease, the goals of care were discussed with the family and we all agreed on providing palliative care. The patient passed away on day 15 of hospital admission.

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“…RPD with an average duration of as little as six months has been seen as a constant finding. Patients invariably developed coma and succumbed to the illness over several months [13].…”

Section: Discussionmentioning

confidence: 99%

Rapidly Progressive Dementia in an Elderly Male: Perseverance Becomes the Key to a Rare Diagnosis

Negi,

Prabhu

2023

Cureus

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“…This is, to our knowledge, one of the first reported cases of CJD in Romania. Filip et al described a case of human prion disease (sporadic CJD) in a 64 years old male [4]. Pop et al described a case of sporadic CJD a 47 years old female [5].…”

Section: Discussionmentioning

confidence: 99%

A case of variant Creutzfeldt-Jakob disease in Romania

Ceausu¹,

Capatina²,

Hostiuc³

et al. 2015

RJLM

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In humans prion diseases can occur sporadically, through genetic mutations, or can be transmitted from animal, human (kuru disease), or iatrogenic sources. Even though transmissible forms are the most well-known, the sporadic and heritable forms are much more frequent, accounting for about 85% of all cases. The purpose of this case report is to present an atypical variant CJD in a 26 years-old woman. The patient died secondary to infectious complications caused by an acute overdose with alcohol, beta-blockers and oral anti-diabetic drugs, and had an atypical neuropathology pattern, with absent amyloid plaques, but present focal, perivascular deposits of amyloid precursor protein and a positive immunohistochemical reaction for prp.

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A Rare Case of Histopathologically Confirmed Creutzfeldt–Jakob Disease from Romania, Long Route to Diagnosis—Case Report and an Overview of the Romanian CJD Situation

Kelemen

Kövecsi

Banias

et al. 2022

JCM

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Creutzfeldt–Jacob disease is a progressive and ultimately fatal disease, representing one of the most common forms of prion diseases. It is a rare pathology presenting with various symptomatology, and the fact that a definite diagnosis can be obtained solely by neuropathological techniques makes it hard to recognize and diagnose. Here we present the clinical and neuropathological features of a 72-year-old woman, who originally presented in a county hospital, then, along with the disease progression, got transferred to a university center in Romania, where CJD-specific tests are rarely performed, and ultimately was diagnosed with the help of international collaboration. The purpose of this case report and review is to summarize the Romanian CJD situation until the present day, to place the Romanian CJD epidemiology in an Eastern European context, and to highlight the diagnostic options and possibilities for clinical practitioners. We would also like to draw attention to the need for a national surveillance system. By presenting the patient’s route in Romania from the first presentation to diagnosis, we would like to emphasize the importance of interdisciplinary and international collaboration, by which we managed to cross the regional diagnostic boundaries and create a possible diagnostic pathway for future cases.

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A case of sporadic Creutzfeldt – Jakob disease and discussion on diagnostic biomarkers

Abstract: Creutzfeldt -Jakob disease (CJD) is a rare neurodegenerative disease caused by prions, characterized by a progressive dementia with rapid onset, psychiatric and neurologic symptoms (myoclonus, cerebellar, pyramidal, extrapyramidal and visual signs)

Cited by 3 publications

References 21 publications

Rapidly Progressive Dementia in an Elderly Male: Perseverance Becomes the Key to a Rare Diagnosis

Rapidly Progressive Dementia in an Elderly Male: Perseverance Becomes the Key to a Rare Diagnosis

A case of variant Creutzfeldt-Jakob disease in Romania

A Rare Case of Histopathologically Confirmed Creutzfeldt–Jakob Disease from Romania, Long Route to Diagnosis—Case Report and an Overview of the Romanian CJD Situation

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