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Advancements in Case Studies

Heidenhain Variant Creutzfeldt-Jakob Disease Identified with RT-QuIC Assay: A Case Report

  • Open or CloseGavin Zanella1*, Nicholas Baltar1*, Forshing Lui1, Ning Zhong2,3,4 and Kaho Wong5

    1California Northstate University College of Medicine, USA

    2Kaiser Permanente North Valley Epilepsy Program, USA

    3Kaiser Permanente Northern California Regional Epilepsy Center, USA

    4Department of Neurology, Kaiser Permanente Sacramento Medical Center, USA

    5Department of Neurology, Kaiser Permanente Roseville Medical Center, USA

    *Corresponding author:Gavin Zanella and Nicholas Baltar, California Northstate University College of Medicine, USA

Submission:January 14, 2022; Published: January 21, 2022

DOI: 10.31031/AICS.2022.03.0005561

ISSN 2639-0531
Volume3 Issue3


Background: Heidenhain variant Creutzfeldt-Jakob disease (HV-CJD) is a form of spongiform encephalopathy characterized by isolated visual symptoms that rapidly progress through a series of often non-specific CNS symptoms that ultimately result in severe dementia, myoclonus, and radically altered mental status. Due to the non-specific nature of this disease’s progression, early diagnosis is challenging and can place large amounts of stress and uncertainty on the patient’s loved ones.
Case Description: We present the case of a 61-year-old female who arrived at the clinic with complaints of isolated bilateral visual disturbances, which resulted in a diagnosis of occipital ischemic stroke after MRI was performed. Weeks later, she rapidly progressed from focal seizures to non-convulsive status epilepticus refractory to treatment with anticonvulsants and benzodiazepines. At this time, she was diagnosed with Creutzfeldt-Jakob disease (CJD) using a relatively new diagnostic test called “real time quaking induced conversion” (RT-QuIC).
Conclusion: Before the advent of the RT-QuIC assay, the diagnosis of CJD was complicated by the lack of a sensitive and specific test and the absence of a uniform clinical course. This case should indicate to readers that the RT-QuIC assay is a high sensitivity and specificity test available for the diagnosis of suspected CJD.

Keywords:Hv-CJD; Creutzfeldt-Jakob disease; RT-QuIC, Case report; Neurology; Ophthalmology

Abbreviations:CJD=Creutzfeldt-Jakob disease; CSF=Cerebrospinal Fluids; sCJD=Spontaneous Creutzfelt- Jakob Disease; DWI=Diffusion Weighted Imaging; EEG=Electroencephalogram; GPD=Generalized Periodic Discharges; Hv-CJD=Heidenhain Variant Creutzfeldt-Jakob Disease; MRI=Magnetic Resonance Imaging; NCSE=Non-convulsive Status Epilepticus; PrPC=Normal Prion Proteins; PrPSC=Pathological Prion Protein; RT-QuIC=Real Time Quaking Induced Conversion; vCJD=Variant Creutzfedlt-Jakob Disease

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