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

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...

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Autores principales:	Mais Arwani, Abhishek Purohit, Abdullah Haddad, Sandeep Rana
Formato:	article
Lenguaje:	EN
Publicado:	Thieme Medical and Scientific Publishers Pvt. Ltd. 2018
Materias:	ataxia creutzfeldt–jakob disease dementia neuropathy ophthalmoplegia Medicine R
Acceso en línea:	https://doaj.org/article/646129b8e77540ca889aa782fef3b307
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spelling	oai:doaj.org-article:646129b8e77540ca889aa782fef3b3072021-12-02T18:50:07ZCreutzfeldt–Jakob disease with unusual presentation of peripheral neuropathy and ophthalmoplegia2231-07702249-446410.4103/ajm.AJM_77_18https://doaj.org/article/646129b8e77540ca889aa782fef3b3072018-10-01T00:00:00Zhttp://www.thieme-connect.de/DOI/DOI?10.4103/ajm.AJM_77_18https://doaj.org/toc/2231-0770https://doaj.org/toc/2249-4464Creutzfeldt–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.Mais ArwaniAbhishek PurohitAbdullah HaddadSandeep RanaThieme Medical and Scientific Publishers Pvt. Ltd.articleataxiacreutzfeldt–jakob diseasedementianeuropathyophthalmoplegiaMedicineRENAvicenna Journal of Medicine, Vol 8, Iss 04, Pp 153-156 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	ataxia creutzfeldt–jakob disease dementia neuropathy ophthalmoplegia Medicine R
spellingShingle	ataxia creutzfeldt–jakob disease dementia neuropathy ophthalmoplegia Medicine R Mais Arwani Abhishek Purohit Abdullah Haddad Sandeep Rana Creutzfeldt–Jakob disease with unusual presentation of peripheral neuropathy and ophthalmoplegia
description	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.
format	article
author	Mais Arwani Abhishek Purohit Abdullah Haddad Sandeep Rana
author_facet	Mais Arwani Abhishek Purohit Abdullah Haddad Sandeep Rana
author_sort	Mais Arwani
title	Creutzfeldt–Jakob disease with unusual presentation of peripheral neuropathy and ophthalmoplegia
title_short	Creutzfeldt–Jakob disease with unusual presentation of peripheral neuropathy and ophthalmoplegia
title_full	Creutzfeldt–Jakob disease with unusual presentation of peripheral neuropathy and ophthalmoplegia
title_fullStr	Creutzfeldt–Jakob disease with unusual presentation of peripheral neuropathy and ophthalmoplegia
title_full_unstemmed	Creutzfeldt–Jakob disease with unusual presentation of peripheral neuropathy and ophthalmoplegia
title_sort	creutzfeldt–jakob disease with unusual presentation of peripheral neuropathy and ophthalmoplegia
publisher	Thieme Medical and Scientific Publishers Pvt. Ltd.
publishDate	2018
url	https://doaj.org/article/646129b8e77540ca889aa782fef3b307
work_keys_str_mv	AT maisarwani creutzfeldtjakobdiseasewithunusualpresentationofperipheralneuropathyandophthalmoplegia AT abhishekpurohit creutzfeldtjakobdiseasewithunusualpresentationofperipheralneuropathyandophthalmoplegia AT abdullahhaddad creutzfeldtjakobdiseasewithunusualpresentationofperipheralneuropathyandophthalmoplegia AT sandeeprana creutzfeldtjakobdiseasewithunusualpresentationofperipheralneuropathyandophthalmoplegia
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Creutzfeldt–Jakob disease with unusual presentation of peripheral neuropathy and ophthalmoplegia

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