A Curious Case of Sub-acute Ataxia and Delayed-onset, Rapidly Progressive Dementia

Case Report

J Fam Med. 2016; 3(11): 1101.

A Curious Case of Sub-acute Ataxia and Delayed-onset, Rapidly Progressive Dementia

Soltani M¹* and Spare M²

¹Family Medicine and Psychiatry Combined Residency Program, University of California San Diego, 200 West Arbor Drive #8809, San Diego, USA

²Veterans Administration San Diego Healthcare System, 3350 La Jolla Village Drive, San Diego, USA

*Corresponding author: Maryam Soltani, Combined Family Medicine & Psychiatry, University of California, San Diego, 200 West Arbor Drive, San Diego, CA 92103- 8809, USA

Received: November 29, 2016; Accepted: December 20, 2016; Published: December 22, 2016

Abstract

CJD is a fatal neurodegenerative disease with an estimated prevalence of one case per million. It often occurs sporadically but familial and iatrogenic cases occur. CJD is caused by the accumulation of pathologic prion proteins (PrPSc) in neuronal tissue leading to neuronal loss. It, typically, presents with rapidly progressive dementia, dysarthria, cerebellar ataxia, and myoclonus, culminating in a kinetic mutism and death. There are at least five different phenotypes for its initial clinical presentation. This paper will describe a case of CJD, explore the clinical presentations of CJD, and discuss a systematic approach to diagnosing CJD.

Keywords: Creutzfeldt - Jakob disease; Prion disease; Sub-acute ataxia; Myoclonus; Dementia

Introduction

Creutzfeldt-Jakob Disease (CJD) a rare and fatal neurodegenerative caused by accumulation of a pathological prion protein (PrPSc) in neuronal tissue leading to neuronal loss, astrocytic gliosis and spongiform changes [1]. Most cases of CJD are sporadic but familial and iatrogenic cases (e.g., transmission through human pituitary growth hormone, dura mater grafts and corneal grafts) do occur [1]. CJD classically presents with rapidly progressive dementia, dysarthria, cerebellar ataxia, myoclonus culminating in akinetic mutism and death [2]. However, there is phenotypic heterogeneity in its presentation [3]. This paper explores clinical presentations of CJD and discusses investigational techniques used to diagnose CJD in the hospital setting.

Case Presentation

A 69 year-old man with history of diabetes mellitus, coronary artery disease status post percutaneous coronary intervention complicated by cardiac arrest and subsequent pacemaker placement, obstructive sleep apnea, hypertension, and atrial fibrillation presented to the emergency department (ED) at the Veterans Affairs (VA) hospital in San Diego, California with lower extremity edema. He was prescribed furosemide and discharged home.

Two days later, he returned to the ED with slurred speech and gait imbalance. He had normal vital signs, mild dysarthria, decreased attention, left-sided pronator drift, tremor, abnormal coordination, peripheral neuropathy and unsteady, broad-based gait with decreased left arm swing. CT head was unrevealing. CT angiogram showed bilateral moderate-to-severe proximal internal carotid artery stenosis. Transthoracic echocardiogram revealed declined ejection fraction from 61% one year prior to 39%. Brain MRI was not performed due to patient’s pacemaker. His symptoms improved with intravenous hydration. He was discharged home.

Two weeks later, he returned to the hospital with left-sided weakness, confusion and word-finding difficulties. Examination revealed impaired language output, child-like affect and truncal ataxia. Reversible causes of dementia were ruled out (Table 1). The neurology consultants recommended genetic testing to rule out heritable ataxias. He was discharged to a skilled nursing facility with scheduled outpatient neurology follow-up.