Creutzfeldt–Jakob Disease: A Case Presentation and Literature Review

1Internal Medicine, University of Hawaii Internal Medicine Residency Program, Honolulu, HI
2Internal Medicine, Queens Medical Center, Honolulu, HI

Meeting: Hospital Medicine 2013, May 16-19, National Harbor, Md.

Abstract number: 512

Case Presentation:

A 59‐year‐old otherwise healthy man initially developed mood changes 6 months prior to admission. Over the ensuing months, the patient developed decreased executive cognitive function and was noted to have difficulty walking. These symptoms rapidly worsened to the point that he could not complete his activities of daily living, and 2 weeks prior to admission he underwent MRI brain and EEG for evaluation. MRI was notable for mild restricted diffusion in the right caudate nucleus, and mild multifocal cortical restricted diffusion. EEG revealed severe generalized slowing, with asymmetric, asynchronous, and disorganized activity, and with frequent sharp activity in the right hemisphere and occasional left frontal sharp activity. Because of his accelerated clinical deterioration patient was admitted for further workup rapidly progressive dementia. The other features of his medical, social, and family history were unremarkable.

On presentation, physical exam was notable for exaggerated startle response, nystagmus, ataxia, and limited speech. Otherwise, no other pertinent findings were found on examination. Laboratory evaluation was unremarkable for metabolic disturbances, heavy metal poisoning, and rheumatologic workup. MRI/MRA brain revealed cortical DWI signal abnormality most prominent in the right hemisphere and right caudate. Lumbar puncture was performed, which was negative for infectious etiology, NMDA receptor antibody, and oligoclonal bands. Later, CSF analysis returned positive for tau (8035 pg/mL) and 14‐3‐3 proteins. During his hospitalization, a multidisciplinary team approach, including neurology and neurosurgery, was involved in coordinating the care of the patient. A presumed clinical diagnosis of Creutzfeldt–Jakob disease (CJD) was made. With the patient's worsening clinical status, per family preference, he was transitioned to comfort care and died approximately 6 months after initial onset of symptoms. Postmortem pathologic analysis of the brain revealed the presence of abnormal protease resistant prion protein (PrPSc) confirming the pathologic diagnosis of CJD.

Discussion:

Sporadic CJD is a rare and ultimately fatal disease, with an estimated cases of 1 per million population per year with a worldwide distribution. When presented with a patient with rapidly progressive dementia, CJD may be a challenging diagnosis for the hospitalist to make. However, a clinical diagnosis may be obtained when clinical features are present, confirmed later by pathologic evaluation. A multidisciplinary approach with the aim toward early palliative care may maximize the patient's quality of life in this difficult disease. Conclusions: The purpose of reporting this case is to review the diagnostic evaluation of rapidly progressive dementia, the typical presenting features of Creutzfeldt‐Jakob Disease, and describe the multidisciplinary management of rapidly progressive CJD.

To cite this abstract:

Maglinao T, Wilcox B, Lian K. Creutzfeldt–Jakob Disease: A Case Presentation and Literature Review. Abstract published at Hospital Medicine 2013, May 16-19, National Harbor, Md. Abstract 512. Journal of Hospital Medicine. 2013; 8 (suppl 2). https://www.shmabstracts.com/abstract/creutzfeldtjakob-disease-a-case-presentation-and-literature-review/. Accessed July 23, 2019.

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