Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome

Hemiconvulsion–hemiplegia–epilepsy syndrome (HHE) is a rare outcome of prolonged hemiconvulsion that is followed by diffuse unilateral hemispheric edema, hemiplegia, and ultimately hemiatrophy of the affected hemisphere and epilepsy. Here, we describe the case of a 3-year-old male with a 1;3 translo...

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Autores principales: Robinson, J. Elliott, Wolfe, Stephanie M., Kaiser-Rogers, Kathleen, Greenwood, Robert S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2016
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4854866/
https://www.ncbi.nlm.nih.gov/pubmed/27199890
http://dx.doi.org/10.3389/fneur.2016.00067
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author Robinson, J. Elliott
Wolfe, Stephanie M.
Kaiser-Rogers, Kathleen
Greenwood, Robert S.
author_facet Robinson, J. Elliott
Wolfe, Stephanie M.
Kaiser-Rogers, Kathleen
Greenwood, Robert S.
author_sort Robinson, J. Elliott
collection PubMed
description Hemiconvulsion–hemiplegia–epilepsy syndrome (HHE) is a rare outcome of prolonged hemiconvulsion that is followed by diffuse unilateral hemispheric edema, hemiplegia, and ultimately hemiatrophy of the affected hemisphere and epilepsy. Here, we describe the case of a 3-year-old male with a 1;3 translocation leading to a terminal 1q43q44 deletion and a terminal 3p26.1p26.3 duplication that developed HHE after a prolonged febrile seizure and discuss the pathogenesis of HHE in the context of the patient’s complex genetic background.
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spelling pubmed-48548662016-05-19 Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome Robinson, J. Elliott Wolfe, Stephanie M. Kaiser-Rogers, Kathleen Greenwood, Robert S. Front Neurol Neuroscience Hemiconvulsion–hemiplegia–epilepsy syndrome (HHE) is a rare outcome of prolonged hemiconvulsion that is followed by diffuse unilateral hemispheric edema, hemiplegia, and ultimately hemiatrophy of the affected hemisphere and epilepsy. Here, we describe the case of a 3-year-old male with a 1;3 translocation leading to a terminal 1q43q44 deletion and a terminal 3p26.1p26.3 duplication that developed HHE after a prolonged febrile seizure and discuss the pathogenesis of HHE in the context of the patient’s complex genetic background. Frontiers Media S.A. 2016-05-04 /pmc/articles/PMC4854866/ /pubmed/27199890 http://dx.doi.org/10.3389/fneur.2016.00067 Text en Copyright © 2016 Robinson, Wolfe, Kaiser-Rogers and Greenwood. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neuroscience
Robinson, J. Elliott
Wolfe, Stephanie M.
Kaiser-Rogers, Kathleen
Greenwood, Robert S.
Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome
title Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome
title_full Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome
title_fullStr Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome
title_full_unstemmed Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome
title_short Stroke-Like Presentation Following Febrile Seizure in a Patient with 1q43q44 Deletion Syndrome
title_sort stroke-like presentation following febrile seizure in a patient with 1q43q44 deletion syndrome
topic Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4854866/
https://www.ncbi.nlm.nih.gov/pubmed/27199890
http://dx.doi.org/10.3389/fneur.2016.00067
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