Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy — Case report

Cognitive decline and epilepsy are well recognized complication of Down syndrome (DS). Here, we intend to present a case of 28 year old male who presented with progressive mental regression, gait ataxia and myoclonic jerking especially on awakening in morning. His EEG was normal and karyotyping reve...

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Autores principales: Sharma, Chandra Mohan, Pandey, Rajendra Kumar, Kumawat, Banshi Lal, Khandelwal, Dinesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4888697/
https://www.ncbi.nlm.nih.gov/pubmed/27293345
http://dx.doi.org/10.4103/0972-2327.173411
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author Sharma, Chandra Mohan
Pandey, Rajendra Kumar
Kumawat, Banshi Lal
Khandelwal, Dinesh
author_facet Sharma, Chandra Mohan
Pandey, Rajendra Kumar
Kumawat, Banshi Lal
Khandelwal, Dinesh
author_sort Sharma, Chandra Mohan
collection PubMed
description Cognitive decline and epilepsy are well recognized complication of Down syndrome (DS). Here, we intend to present a case of 28 year old male who presented with progressive mental regression, gait ataxia and myoclonic jerking especially on awakening in morning. His EEG was normal and karyotyping revealed trisomy of chromosome 21. Very few cases had been described in literature of late-onset myoclonic epilepsy in DS. This is first case report from India and our aim is to propose the inclusion of this entity in the spectrum of progressive myoclonic epilepsies but still more cases are yet to be found.
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spelling pubmed-48886972016-06-10 Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy — Case report Sharma, Chandra Mohan Pandey, Rajendra Kumar Kumawat, Banshi Lal Khandelwal, Dinesh Ann Indian Acad Neurol Case Report Cognitive decline and epilepsy are well recognized complication of Down syndrome (DS). Here, we intend to present a case of 28 year old male who presented with progressive mental regression, gait ataxia and myoclonic jerking especially on awakening in morning. His EEG was normal and karyotyping revealed trisomy of chromosome 21. Very few cases had been described in literature of late-onset myoclonic epilepsy in DS. This is first case report from India and our aim is to propose the inclusion of this entity in the spectrum of progressive myoclonic epilepsies but still more cases are yet to be found. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC4888697/ /pubmed/27293345 http://dx.doi.org/10.4103/0972-2327.173411 Text en Copyright: © Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution NonCommercial ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Sharma, Chandra Mohan
Pandey, Rajendra Kumar
Kumawat, Banshi Lal
Khandelwal, Dinesh
Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy — Case report
title Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy — Case report
title_full Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy — Case report
title_fullStr Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy — Case report
title_full_unstemmed Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy — Case report
title_short Late-onset myoclonic epilepsy in Down syndrome (LOMEDS): A spectrum of progressive myoclonic epilepsy — Case report
title_sort late-onset myoclonic epilepsy in down syndrome (lomeds): a spectrum of progressive myoclonic epilepsy — case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4888697/
https://www.ncbi.nlm.nih.gov/pubmed/27293345
http://dx.doi.org/10.4103/0972-2327.173411
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AT kumawatbanshilal lateonsetmyoclonicepilepsyindownsyndromelomedsaspectrumofprogressivemyoclonicepilepsycasereport
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