Sporadic Creutzfeldt–Jakob disease presenting as a stroke mimic

Hirst, Claire Louise

doi:10.12968/hmed.2011.72.10.590

Cited by 12 publications

(7 citation statements)

References 5 publications

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“…Several familial and sporadic CJD patients have been described with a sudden stroke‐like presentation . Like our patient some cases presented with ataxia directing to vertebrobasilar origin but some presented with hemiparesis mimicking hemispheric stroke.…”

Section: Discussionsupporting

confidence: 49%

Unusual presentations in patients with E200K familial Creutzfeldt−Jakob disease

Cohen

Kimiagar

Korczyn

et al. 2016

Euro J of Neurology

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Background and propose Familial Creutzfeldt-Jakob disease (fCJD) in Jews of Libyan ancestry is caused by an E200K mutation in the PRNP gene. The typical presenting symptoms include cognitive decline, behavioral changes and gait disturbances, however some patients may have an unusual presentation such as a stroke-like presentation, alien hand syndrome or visual disturbances. The aim of this manuscript is to describe uncommon presentations in our series of consecutive patients with E200K fCJD. Methods The study group included consecutive fCJD patients followed up as part of a longitudinal prospective study ongoing since 2003 or hospitalized since 2005. The clinical diagnosis of probable CJD was based on accepted diagnostic criteria and supported by typical MRI, electroencephalographic findings, elevated CSF tau protein levels, and by genetic testing for the E200K mutation. Disease symptoms and signs were retrieved from the medical files. Results The study population included 77 patients (42 men) with a mean age of disease onset of 60.6 ±7.2 years. The most prevalent presenting symptoms were cognitive decline followed by gait impairment and behavioral changes. However six patients had an unusual presentation including auditory agnosia, monoparesis, stroke like presentation, facial nerve palsy, pseudobulbar syndrome and alien hand syndrome. Discussion Our case series illustrate the wide phenotypic variability of the clinical presentation of patients with fCJD and widens the clinical spectrum of the disease. A high level of clinical suspicion may prove useful in obtaining early diagnosis and therefore avoiding costly and inefficient diagnostic and therapeutic strategies.

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Section: Discussionsupporting

confidence: 49%

Unusual presentations in patients with E200K familial Creutzfeldt−Jakob disease

Cohen

Kimiagar

Korczyn

et al. 2016

Euro J of Neurology

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“…17–19 In many of these cases, the focal deficit is the initial manifestation of sCJD, and in some, the focal symptoms are acute in onset leading to an incorrect diagnosis of stroke. 15,20 There are also post-mortem neuropathological studies of sCJD with focal/lateralized manifestations in which the distribution of spongiform changes and neuronal loss in the brain correlate well with the clinical picture. 21,22 …”

Section: Discussionmentioning

confidence: 99%

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

et al. 2013

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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 epilepsia partialis continua (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. Electroence-phalography (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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“…Electronic literature searches were performed to identify articles that report on the extent to which surgical instruments remain in their original sets following use and decontamination. Terms for 'instrument decontamination' (see Appendix 1, search strategy lines 36-41) were combined with 'high-risk surgical procedures' (see Appendix 1, search strategy lines [42][43][44][45][46][47][48][49][50][51][52][53][54][55][56]. A list of high-risk surgical procedures were taken from appendix C of NICE IPG196.…”

Section: Searches For the Secondary Transmission Of Cjd By Invasive Dmentioning

confidence: 99%

“…Owing to the median age at onset of sCJD symptoms, it is possible that CJD and prion disease cases may be concealed among cases of more commonly encountered but similarly rapidly deteriorating neurological conditions affecting older people, such as Alzheimer's disease. In the published literature, there are numerous reports of CJD mimicking other conditions including stroke, 54,55 acute neuropathy, 56 hyperparathyroidism, 57 dementia, 51,[58][59][60][61] Lewy body dementia, 51 encephalitis, 51 aphasia, 62 Alzheimer's disease, 51,60 psychiatric decompensation 50 and movement disorder. 63 The potential for CJD cases to be misdiagnosed was first demonstrated in a study in 1995 which found from an analysis of dementia autopsies that only about 60% of prion disease cases with pathologically typical spongiform encephalopathy were identified clinically during life.…”

Section: Diagnosis Of Creutzfeldt-jakob Diseasementioning

confidence: 99%

Interventions to reduce the risk of surgically transmitted Creutzfeldt–Jakob disease: a cost-effective modelling review

Stevenson

Uttley

Oakley

et al. 2020

Health Technol Assess

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Background Creutzfeldt–Jakob disease is a fatal neurological disease caused by abnormal infectious proteins called prions. Prions that are present on surgical instruments cannot be completely deactivated; therefore, patients who are subsequently operated on using these instruments may become infected. This can result in surgically transmitted Creutzfeldt–Jakob disease. Objective To update literature reviews, consultation with experts and economic modelling published in 2006, and to provide the cost-effectiveness of strategies to reduce the risk of surgically transmitted Creutzfeldt–Jakob disease. Methods Eight systematic reviews were undertaken for clinical parameters. One review of cost-effectiveness was undertaken. Electronic databases including MEDLINE and EMBASE were searched from 2005 to 2017. Expert elicitation sessions were undertaken. An advisory committee, convened by the National Institute for Health and Care Excellence to produce guidance, provided an additional source of information. A mathematical model was updated focusing on brain and posterior eye surgery and neuroendoscopy. The model simulated both patients and instrument sets. Assuming that there were potentially 15 cases of surgically transmitted Creutzfeldt–Jakob disease between 2005 and 2018, approximate Bayesian computation was used to obtain samples from the posterior distribution of the model parameters to generate results. Heuristics were used to improve computational efficiency. The modelling conformed to the National Institute for Health and Care Excellence reference case. The strategies evaluated included neither keeping instruments moist nor prohibiting set migration; ensuring that instruments were kept moist; prohibiting instrument migration between sets; and employing single-use instruments. Threshold analyses were undertaken to establish prices at which single-use sets or completely effective decontamination solutions would be cost-effective. Results A total of 169 papers were identified for the clinical review. The evidence from published literature was not deemed sufficiently strong to take precedence over the distributions obtained from expert elicitation. Forty-eight papers were identified in the review of cost-effectiveness. The previous modelling structure was revised to add the possibility of misclassifying surgically transmitted Creutzfeldt–Jakob disease as another neurodegenerative disease, and assuming that all patients were susceptible to infection. Keeping instruments moist was estimated to reduce the risk of surgically transmitted Creutzfeldt–Jakob disease cases and associated costs. Based on probabilistic sensitivity analyses, keeping instruments moist was estimated to on average result in 2.36 (range 0–47) surgically transmitted Creutzfeldt–Jakob disease cases (across England) caused by infection occurring between 2019 and 2023. Prohibiting set migration or employing single-use instruments reduced the estimated risk of surgically transmitted Creutzfeldt–Jakob disease cases further, but at considerable cost. The estimated costs per quality-adjusted life-year gained of these strategies in addition to keeping instruments moist were in excess of £1M. It was estimated that single-use instrument sets (currently £350–500) or completely effective cleaning solutions would need to cost approximately £12 per patient to be cost-effective using a £30,000 per quality-adjusted life-year gained value. Limitations As no direct published evidence to implicate surgery as a cause of Creutzfeldt–Jakob disease has been found since 2005, the estimations of potential cases from elicitation are still speculative. A particular source of uncertainty was in the number of potential surgically transmitted Creutzfeldt–Jakob disease cases that may have occurred between 2005 and 2018. Conclusions Keeping instruments moist is estimated to reduce the risk of surgically transmitted Creutzfeldt–Jakob disease cases and associated costs. Further surgical management strategies can reduce the risks of surgically transmitted Creutzfeldt–Jakob disease but have considerable associated costs. Study registration This study is registered as PROSPERO CRD42017071807. Funding This project was funded by the National Institute for Health Research (NIHR) Health Technology Assessment programme and will be published in full in Health Technology Assessment; Vol. 24, No. 11. See the NIHR Journals Library website for further project information.

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Sporadic Creutzfeldt–Jakob disease presenting as a stroke mimic

Cited by 12 publications

References 5 publications

Unusual presentations in patients with E200K familial Creutzfeldt−Jakob disease

Unusual presentations in patients with E200K familial Creutzfeldt−Jakob disease

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

Interventions to reduce the risk of surgically transmitted Creutzfeldt–Jakob disease: a cost-effective modelling review

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