Abstract

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