The Importance of Rapid Consideration of Creutzfeldt- Jakob Disease in the Differential Diagnosis of Progressive Neurodegenerative Disease: A Case Report

Arthur Joseph,Daniel Solano,Shaun Smart,Marquand Patton,Jacob Core

doi:10.5195/ijms.2016.154

Abstract

Background: Creutzfeldt-Jakob disease (CJD) is a prion disease characterized by misfolded proteins that lead to neurodegeneration and inevitable death. Classic sporadic CJD presents primarily with cognitive symptoms and ataxia without visual impairment at the onset of the illness. Seizure activity is a rare presentation of patients with sporadic CJD. Case: We present a rare case of rapidly progressive encephalopathy in a 57-year-old female who presented to the emergency department with bizarre behavior and vision deterioration. Imaging was unrevealing, and infectious and organic causes were ruled out. Electroencephalogram showed evidence of encephalopathy and non-convulsive status epilepticus. Magnetic resonance imaging conducted later displayed high signal intensity in centrum ovale. The patient’s history, results from diagnostic analyses, and clinical presentation suggested the diagnosis of CJD (sporadic type). Conclusion: Due to the low incidence and varying clinical presentations, it is difficult to include CJD in a differential diagnosis without specific analytic measures. However, for the benefit of the patient and healthcare resources, CJD needs to be quickly considered when rapid neurological decline or non-convulsive status epilepticus is not suggestive of another entity

Highlights

Creutzfeldt-Jakob disease (CJD), the most iconic of the human prion pathologies, is characterized by misfolded proteins that lead to neurodegeneration and inevitable death
Seizure activity is a rare presentation in Sporadic CJD (sCJD), and a review of the literature up to 2010 found that 12 patients have been reported to present with CJD and
We present a rare case of rapidly progressive encephalopathy in a 57-year-old female, who presented with cognitive decline and nonconvulsive status epilepticus (NCSE), which lead to the diagnosis of sCJD

Summary

Introduction

Creutzfeldt-Jakob disease (CJD), the most iconic of the human prion pathologies, is characterized by misfolded proteins that lead to neurodegeneration and inevitable death. CJD displays an exceedingly fast rate of deterioration, with a median time from onset of symptoms to death of 12 months. The time from onset of symptoms to diagnosis varies, with a median of approximately 6 months.[1] With an estimated incidence of one to two per million people annually, CJD is a rare but important consideration in the differential diagnosis of rapid neurodegeneration.[2,3]. Classic sCJD has been described primarily with cognitive symptoms and ataxia without visual impairment at the onset of the illness. Classic sCJD notoriously has a short interval between symptom onset and diagnostic evaluation.[3] Seizure activity is a rare presentation in sCJD, and a review of the literature up to 2010 found that 12 patients have been reported to present with CJD and

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