An Unusual Case of Creutzfeldt- Jakob Disease Misdiagnosed as Status Epilepticus: A Case Study

An Unusual Case of Creutzfeldt- Jakob Disease Misdiagnosed as Status Epilepticus: A Case Study | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Short Report An Unusual Case of Creutzfeldt- Jakob Disease Misdiagnosed as Status Epilepticus: A Case Study Karminder Singh, Niraj Arora, Premkumar Nattanmai Chandershekran, and 2 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-9031876/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Introduction : Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative disease worldwide, with approximately 1–1.5 cases per million people per year. It is caused by a type of abnormal protein known as a prion or scrapie PrP. Infectious prions are misfolded proteins that can induce misfolding in normally folded proteins, leading to clinical symptoms. Clinical symptoms vary, with early symptoms including memory problems, behavioral changes, poor coordination, and visual and auditory disturbances. Later symptoms include dementia, involuntary movements, blindness, deafness, weakness, and coma. The varied clinical presentations pose diagnostic challenges for clinicians, requiring multiple diagnostic modalities and a high index of suspicion. Case Presentation : We present a case of a 54-year-old man with a history of complex partial seizures, diabetes mellitus type 2, left temporal lobe surgery secondary to seizures, deep vein thrombosis and pulmonary embolism, left common to external iliac vein wall stent, hypertension, and hyperlipidemia, who was admitted to the Neuro ICU after a motor vehicle accident and was found to have seizures at the time of extrication. He was intubated at the site due to the inability to protect the airway with concern for status epilepticus. The patient had a protracted ICU course due to a lack of improvement despite being treated with multiple antiseizure medications and a negative workup. Furthermore, a rapidly progressive neurological decline marked by refractory encephalopathy, abnormal involuntary movements, and evolving focal-to-diffuse neuroimaging abnormalities developed. Ultimately, the patient tested positive for 14-3-3 in the CSF and was diagnosed with Creutzfeldt- Jakob Disease (CJD) as a delayed diagnosis. Conclusion : Creutzfeldt-Jakob disease (CJD) is a rare disease with varied presentations, posing diagnostic challenges for clinicians. We highlight an interesting case of Creutzfeldt- Jakob Disease (CJD), which was misdiagnosed as status epilepticus due to an unusual presentation causing a diagnostic dilemma. The case highlights features of the clinical examination and imaging findings that are atypical of CJD. Clinicians should be vigilant in the management of patients with status epilepticus who do not respond to conventional antiepileptic medications and may have an alternative diagnosis. Creutzfeldt-Jakob disease (CJD) Prion disease Status Epilepticus Unusual presentation Misdiagnosis Full Text Additional Declarations No competing interests reported. I, Karminder Singh, MD, stated that I have received permission from the patient’s legal guardian to participate and publish their clinical case on 03/05/2026. I confirmed with the patient’s legal guardian that his name and/or initials will not be published. Cite Share Download PDF Status: Posted Version 1 posted You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. We do this by developing innovative software and high quality services for the global research community. Our growing team is made up of researchers and industry professionals working together to solve the most critical problems facing scientific publishing. Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-9031876","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Short Report","associatedPublications":[],"authors":[{"id":603109385,"identity":"e62a4ae8-3d68-408b-a71c-a552ce98589f","order_by":0,"name":"Karminder Singh","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAA4UlEQVRIiWNgGAWjYDCCA0CcAESMDYcPMDA2kKKFufFYAglaQLrYm88YEKeF7/YB5g8Pd9Tm8bad+Sbxc4eNHAP74aMb8GmRPJfAJpF45nixZM/ZbZK9Z9KMGXjS0m7g02JwhoGNIbHtWOLGGWe3SfC2HU5skOAxI6SF+QNIy/77b55J/iVSC4NEYltNYmPDGTZpomyRPMPYBtRyAKjlmLG1bFuaMRshv/CdYT788WdbHVDL4Yc337bZyPGzHz6GVwsDJC4Og1gsEiCSDb9yOKgDEcwfiFQ9CkbBKBgFIwwAAKCNVgQ4j1sLAAAAAElFTkSuQmCC","orcid":"","institution":"University of Missouri","correspondingAuthor":true,"prefix":"","firstName":"Karminder","middleName":"","lastName":"Singh","suffix":""},{"id":603109391,"identity":"b1bfef9b-be9c-45fa-a6f7-63ba559b1bf4","order_by":1,"name":"Niraj Arora","email":"","orcid":"","institution":"University of Missouri","correspondingAuthor":false,"prefix":"","firstName":"Niraj","middleName":"","lastName":"Arora","suffix":""},{"id":603109393,"identity":"811cc21b-b38d-47aa-8d32-aace0f5a86a8","order_by":2,"name":"Premkumar Nattanmai Chandershekran","email":"","orcid":"","institution":"University of Missouri","correspondingAuthor":false,"prefix":"","firstName":"Premkumar","middleName":"Nattanmai","lastName":"Chandershekran","suffix":""},{"id":603109395,"identity":"ae4d4593-b721-4a46-b3cd-2258a871ea51","order_by":3,"name":"Shradha Kakde","email":"","orcid":"","institution":"Mahatma Gandhi Memorial Medical College","correspondingAuthor":false,"prefix":"","firstName":"Shradha","middleName":"","lastName":"Kakde","suffix":""},{"id":603109397,"identity":"746a24b2-4116-4f72-8d5c-014ead3f090d","order_by":4,"name":"Rameez Merchant","email":"","orcid":"","institution":"University of Missouri","correspondingAuthor":false,"prefix":"","firstName":"Rameez","middleName":"","lastName":"Merchant","suffix":""}],"badges":[],"createdAt":"2026-03-04 15:23:32","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-9031876/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-9031876/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":105870365,"identity":"c24d940d-a95c-4750-9d65-63c1cfcc0150","added_by":"auto","created_at":"2026-04-01 04:25:25","extension":"pdf","order_by":1,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":544857,"visible":true,"origin":"","legend":"","description":"","filename":"AnunusualcaseofCreutzfeldtJakobDiseasemisdiagnosedasStatusEpilepticusACaseStudyfinal3.pdf","url":"https://assets-eu.researchsquare.com/files/rs-9031876/v1_covered_81047cc9-0326-4f6e-b865-0370b072c8c3.pdf"}],"financialInterests":"\u003cp\u003eNo competing interests reported.\u003c/p\u003e\n\u003cp\u003eI, Karminder Singh, MD, stated that I have received permission from the patient’s legal guardian to participate and publish their clinical case on 03/05/2026. 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The varied clinical presentations pose diagnostic challenges for clinicians, requiring multiple diagnostic modalities and a high index of suspicion.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCase Presentation\u003c/strong\u003e: We present a case of a 54-year-old man with a history of complex partial seizures, diabetes mellitus type 2, left temporal lobe surgery secondary to seizures, deep vein thrombosis and pulmonary embolism, left common to external iliac vein wall stent, hypertension, and hyperlipidemia, who was admitted to the Neuro ICU after a motor vehicle accident and was found to have seizures at the time of extrication. He was intubated at the site due to the inability to protect the airway with concern for status epilepticus. The patient had a protracted ICU course due to a lack of improvement despite being treated with multiple antiseizure medications and a negative workup. Furthermore, a rapidly progressive neurological decline marked by refractory encephalopathy, abnormal involuntary movements, and evolving focal-to-diffuse neuroimaging abnormalities developed. Ultimately, the patient tested positive for 14-3-3 in the CSF and was diagnosed with Creutzfeldt- Jakob Disease (CJD) as a delayed diagnosis.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConclusion\u003c/strong\u003e: Creutzfeldt-Jakob disease (CJD) is a rare disease with varied presentations, posing diagnostic challenges for clinicians. We highlight an interesting case of Creutzfeldt- Jakob Disease (CJD), which was misdiagnosed as status epilepticus due to an unusual presentation causing a diagnostic dilemma. The case highlights features of the clinical examination and imaging findings that are atypical of CJD. 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