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CC BY-NC-ND 4.0 · Avicenna J Med 2018; 8(04): 153-156
DOI: 10.4103/ajm.AJM_77_18
CASE REPORT

Creutzfeldt–Jakob disease with unusual presentation of peripheral neuropathy and ophthalmoplegia

Mais Arwani
Department of Internal Medicine, Allegheny General Hospital, Western Pennsylvania Hospital Medical Education Consortium, Pittsburgh, PA, USA
,
Abhishek Purohit
Department of Neurology, Allegheny General Hospital, Western Pennsylvania Hospital Medical Education Consortium, Pittsburgh, PA, USA
,
Abdullah Haddad
Department of Internal Medicine, Allegheny General Hospital, Western Pennsylvania Hospital Medical Education Consortium, Pittsburgh, PA, USA
,
Sandeep Rana
Department of Neurology, Allegheny General Hospital, Western Pennsylvania Hospital Medical Education Consortium; Department of Neurology, Temple University School of Medicine, Pittsburgh, PA, USA
› Author Affiliations Financial support and sponsorship Nil.
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Abstract

Creutzfeldt–Jakob disease (CJD) is a well-described disease. It is characterized by rapidly progressive dementia, myoclonus, ataxia, pyramidal, and extrapyramidal signs. There are well-defined electroencephalogram and magnetic resonance imaging (MRI) findings, and markers found in the cerebrospinal fluid (CSF). The gold standard for diagnosing CJD remains brain biopsy. We present a case of a patient with a family history of biopsy-proven CJD who initially presented with symptoms of peripheral neuropathy. A month later, he developed ataxia, ophthalmoparesis, and then dysarthria. His initial workup was relatively unrevealing, showing an elevated protein in his CSF. He was thought to have Miller Fisher syndrome variant of Guillain–Barré syndrome. He neither, however, responded to plasmapheresis nor IVIG. He later started to develop progressive dementia. Repeated MRI showed restricted diffusion in the caudate and putamen, as well as in the cortex (cortical ribboning). Lumbar puncture was then found to be positive for 14-3-3 protein, total-tau protein, and real-time quaking-induced conversion assay, which are highly suggestive of CJD. We present a case of CJD with an unusual presentation resulting in misdiagnosis, prolonged workup, and potentially harmful treatment modalities. This case highlights the importance of broadening our definition of CJD to encompass more cases with unusual presentations.

Keywords

Ataxia - Creutzfeldt–Jakob disease - dementia - neuropathy - ophthalmoplegia


Publication History

Article published online:
12 August 2021

© 2018. Syrian American Medical Society. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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