A 50‐year‐old Chinese woman with a medical history of hepatitis B was brought to the emergency department by her family for a 6‐week history of hypersomnolence, irritability, and confusion. Other presenting symptoms included decreased oral intake, gait instability, and a phobia of stairs. She was afebrile on admission with stable vital signs. On neurologic examination, the patient was dysarthric, unable to follow commands, and exhibited occasional episodes of myoclonic jerking movements of the upper extremities. Rigidity, ataxia, and diminished deep tendon reflexes were also noted. Serum chemistries including a basic metabolic panel, complete blood count, urinalysis, and chest X‐ray were within normal limits. Nonconrtrast computed tomography (CT) scan of the head was also negative. During the hospitalization, the jerking movements of her arms progressed to generalized tonic‐clonic seizure activity. The patient also developed akinetic mutism, dysphagia, and worsening dementia. B12, folate, TSH, RPR. lymes serologies, erythrocyte sedimentation rate, and urine screen for heavy metals including arsenic, lead, and mercury were negative. Results of a cerebrospinal fluid (CSF) evaluation revealed normal protein and glucose without pleocytosis. Electroencephalogram (EEG) demonstrated generalized triphasic discharges of 1‐2 Hertz associated with postdischarge slow waves, suggestive of a degenerative disease. Magnetic resonance imaging (MRI) of the brain with diffusion‐weighted images revealed bilateral lesions of the striate bodies raising the question of spongiform changes. CSF analysis of 14‐3‐3 protein was positive, and a probable diagnosis of Creutzfeld‐Jacob disease (CJD) disease was made.
CJD, the most frequent of the human prion diseases, occurs in approximately 1 per 1,000,000 persons in the population per year, with a worldwide distribution. Rapidly progressive mental deterioration and myoclonus are the 2 cardinal clinical manifestations. Other features include dementia, behavioral abnormalities, and deficits involving higher cortical function. Once symptoms appear, the disease progresses rapidly, and death usually occurs within 1 year. The World Health Organization (WHO) criteria for probable sporadic CJD includes progressive dementia with at least 2 of the following 4 clinical features: myoclonus, visual/cerebellar disturbance, pyramidal/extrapyramidal dysfunction, or akinetic mutism. Although characteristic findings on EEG and MRI are supportive, brain biopsy remains the gold standard for definitive diagnosis of the disease. In our case, a probable diagnosis of CJD was established based on history, clinical presentation, and pathognomonic findings on MRI, EEG, and CSF in accordance with the WHO criteria.
Hospitalists commonly encounter elderly patients with a change in mental status, If routine evaluations are negative, a high index of suspicion for unusual etiologies such as CJD disease should be maintained.
T. Abdallah, none; M. Patel, none; A. Gottesman, none.
To cite this abstract:Abdallah T, Patel M, Gottesman A. Creutzfeldt‐Jacob Disease: A Diagnostic Dilemma. Abstract published at Hospital Medicine 2009, May 14-17, Chicago, Ill. Abstract 137. https://www.shmabstracts.com/abstract/creutzfeldtjacob-disease-a-diagnostic-dilemma/. Accessed February 16, 2019.