Rapidly Progressing Encephalopathy in a 49-Year-Old Female: Creutzfeldt-Jakob Disease

TL;DR

A 49-year-old woman with rapidly worsening neurological symptoms was diagnosed with Creutzfeldt-Jakob Disease after initial misdiagnosis.

Contribution

This case emphasizes the importance of considering CJD in patients with progressive encephalopathy for timely diagnosis.

Findings

The patient's cerebrospinal fluid tested positive for tau and 14-3-3 proteins, supporting a CJD diagnosis.

A paraneoplastic antibody test was negative, ruling out other potential causes.

The case underscores the need for early CJD screening in patients with rapid neurological decline.

Abstract

Creutzfeldt-Jakob Disease (CJD) is a rare neurological disorder. We present the case of a 49-year-old woman brought to the hospital with a rapid decline in daily activities. Her symptoms progressed rapidly over two months. She was evaluated in an outside facility and was diagnosed with conversion disorder. All the initial workup results for the patient were unremarkable. After she spiked a fever, we analyzed her cerebrospinal fluid for prions. The test was positive for tau and 14-3-3 proteins. For a second opinion, the University of San Francisco Prion Research reviewed the case, confirmed CJD, and reported a negative paraneoplastic antibody test. The patient's condition deteriorated with worsening spasticity and aphasia. She had a percutaneous endoscopic gastrostomy tube placed for nutrition and was transferred to life under hospice care with a do-not-resuscitate status per her family's request. This case highlights that CJD should be considered in differential diagnoses in patients with progressive encephalopathy, impaired coordination, visual changes, and mental decline to exclude a curable entity.

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