HYBRID EVENT: You can participate in person at Orlando, Florida, USA or Virtually from your home or work.

12th Edition of International Conference on Neurology and Brain Disorders

October 20-22, 2025

October 20 -22, 2025 | Orlando, Florida, USA
INBC 2025

A puzzling case of visual disturbances ends with a diagnosis of a fatal protein disease

Speaker at Brain Disorders Conference - Courtney Jessica Austin
The university of Texas Rio Grande Valley, United States
Title : A puzzling case of visual disturbances ends with a diagnosis of a fatal protein disease

Abstract:

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, 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.1 We report the case of a 65-year-old Hispanic male who presented with a rapidly progressive neurodegeneration hallmarked by visual and spatial impairments, sleep disturbances, static epilepticus, myoclonus, and ataxic gait. He was previously diagnosed with autoimmune encephalitis at a different facility due to elevated protein levels in his CSF. However, his final diagnosis of sCJD was delayed by frequent diagnostic procedures and imaging. He was found to have positive 14-3-3-tau proteins in his cerebrospinal fluid, slowing of electroencephalographic activity, and hyperintensities of cortical gyri in bilateral parietal, frontal, and occipital lobes consistent with sporadic CJD. One thing to note is that the patient did not initially experience cognitive decline, as seen in 35% of sCJD. After confirmation of diagnosis, the patient was enrolled in hospice care, approximately 9 months after the initial onset of symptoms. In this case report, we discuss the barriers to a timely sCJD diagnosis and efforts to improve end-of-life care for those with suspected/confirmed sCJD

Biography:

Courtney Austin is a 4th-year medical student at the University of Texas Rio Grande Valley School of Medicine. She graduated from the University of Texas at Austin in 2017 with a Bachelor of Science in Computational Biology and a certificate in Scientific Computation. She then attended UT Austin McCombs School of Business to pursue a Health Informatics and Health Information Professional Certificate in 2019. She is currently completing a research fellowship at the University of California, San Francisco (UCSF) Children’s Communication Clinic in the Otolaryngology – Head and Neck Surgery under the supervision of Dr. Dylan Chan, M.D., Ph.D.

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