Posters
Presenting Author Academic/Professional Position
Courtney J Austin
Academic Level (Author 1)
Medical Student
Academic Level (Author 2)
Resident
Discipline/Specialty (Author 2)
Neurology
Discipline/Specialty (Author 3)
Internal Medicine
Academic Level (Author 4)
Faculty
Discipline/Specialty (Author 4)
Neurology
Discipline Track
Community/Public Health
Abstract Type
Research/Clinical
Abstract
Background: Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative disease in which early diagnosis is complicated by the presence of early non-specific and atypical presentations. Sporadic CJD (sCJD), the most common type of CJD, is caused by the spread of a disease-forming prion known as PrPSc. PrPSc multiplies and binds to the normal form of prion, or PrP, converting it to an abnormal, structurally altered disease form that spreads throughout the brain. sCJD can initially present with six different phenotypes: cognitive, affective, classic, visual (Heidenhain variant), atactic (Oppenheimer-Brownell variant), and indeterminate. The classic presentation of CJD includes rapidly progressive dementia with ataxia, extra-pyramidal signs, behavioral problems, and myoclonus in the advanced stage. The Heidenhaim variant is seen in 20% of sCJD cases and is characterized by the onset of visual symptoms. Due to the absence of cognitive and motor symptoms, this variant may result in sCJD falling low in the differential diagnosis.
Case Presentation: We report the case of a 65-year-old Hispanic male who presented to the emergency department with a rapidly progressive neurodegeneration hallmarked by visual and spatial impairments, sleep disturbances, static epilepticus, myoclonus, and ataxic gait. He had a history of hypertension, cervical stenosis, and diabetes mellitus. He was previously diagnosed with autoimmune encephalitis at a nonUTRGV-affiliated facility due to elevated protein levels in his CSF and received treatment with intravenous immunoglobulin therapy and several courses of steroids with little improvement in status. However, his final diagnosis of sCJD was delayed by non-specific clinical presentation and frequent diagnostic procedures and imaging. 2 weeks after his hospitalization, he was found to have positive 14-3- 3-tau proteins in his cerebrospinal fluid, slowing of electroencephalographic activity on electroencephalogram, and MRI hyperintensities of cortical gyri in bilateral parietal, frontal, and occipital lobes consistent with sCJD. One thing to note is that the patient did not initially experience cognitive decline, as seen in 35% of sCJD cases. Due to the rapid deterioration of the patient following hospitalization, it was difficult to assess his cognitive function due to fluctuation in mental status and loss of motor function. After confirmation of sCJD diagnosis, the patient was enrolled in hospice and palliative care, approximately 6 months after the initial onset of visual symptoms.
Conclusion: In this report, we discussed the barriers to a timely sCJD diagnosis and efforts to improve end-of-life care for those with suspected/confirmed CJD. We also highlight the importance of clinical differentiation of CJD from rapidly progressive neurodegenerative diseases, as imaging and diagnostic testing can share similar findings, delaying the appropriate diagnosis.
Presentation Type
Poster
Recommended Citation
Austin, Courtney J.; Carrillo, Aaron; Rojas Huen, Jennifer; and Parada, Victoria, "A Puzzling Case of Visual Disturbances Leads to a Fatal Neurodegenerative Diagnosis" (2025). Research Colloquium. 33.
https://scholarworks.utrgv.edu/colloquium/2025/posters/33
Included in
Infectious Disease Commons, Internal Medicine Commons, Neurology Commons, Other Public Health Commons, Palliative Care Commons, Pathological Conditions, Signs and Symptoms Commons
A Puzzling Case of Visual Disturbances Leads to a Fatal Neurodegenerative Diagnosis
Background: Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative disease in which early diagnosis is complicated by the presence of early non-specific and atypical presentations. Sporadic CJD (sCJD), the most common type of CJD, is caused by the spread of a disease-forming prion known as PrPSc. PrPSc multiplies and binds to the normal form of prion, or PrP, converting it to an abnormal, structurally altered disease form that spreads throughout the brain. sCJD can initially present with six different phenotypes: cognitive, affective, classic, visual (Heidenhain variant), atactic (Oppenheimer-Brownell variant), and indeterminate. The classic presentation of CJD includes rapidly progressive dementia with ataxia, extra-pyramidal signs, behavioral problems, and myoclonus in the advanced stage. The Heidenhaim variant is seen in 20% of sCJD cases and is characterized by the onset of visual symptoms. Due to the absence of cognitive and motor symptoms, this variant may result in sCJD falling low in the differential diagnosis.
Case Presentation: We report the case of a 65-year-old Hispanic male who presented to the emergency department with a rapidly progressive neurodegeneration hallmarked by visual and spatial impairments, sleep disturbances, static epilepticus, myoclonus, and ataxic gait. He had a history of hypertension, cervical stenosis, and diabetes mellitus. He was previously diagnosed with autoimmune encephalitis at a nonUTRGV-affiliated facility due to elevated protein levels in his CSF and received treatment with intravenous immunoglobulin therapy and several courses of steroids with little improvement in status. However, his final diagnosis of sCJD was delayed by non-specific clinical presentation and frequent diagnostic procedures and imaging. 2 weeks after his hospitalization, he was found to have positive 14-3- 3-tau proteins in his cerebrospinal fluid, slowing of electroencephalographic activity on electroencephalogram, and MRI hyperintensities of cortical gyri in bilateral parietal, frontal, and occipital lobes consistent with sCJD. One thing to note is that the patient did not initially experience cognitive decline, as seen in 35% of sCJD cases. Due to the rapid deterioration of the patient following hospitalization, it was difficult to assess his cognitive function due to fluctuation in mental status and loss of motor function. After confirmation of sCJD diagnosis, the patient was enrolled in hospice and palliative care, approximately 6 months after the initial onset of visual symptoms.
Conclusion: In this report, we discussed the barriers to a timely sCJD diagnosis and efforts to improve end-of-life care for those with suspected/confirmed CJD. We also highlight the importance of clinical differentiation of CJD from rapidly progressive neurodegenerative diseases, as imaging and diagnostic testing can share similar findings, delaying the appropriate diagnosis.
