Cargando…

Migrating partial seizures in infancy and 47XYY syndrome: Cause or coincidence?

Migrating partial seizures in infancy (MPSI) is a rare epilepsy syndrome with poor prognosis. The exact etiology of MPSI is still not known. We report a 14-month-old baby with 47XYY karyotype who presented with developmental delay and drug-refractory seizures satisfying the diagnostic criteria for M...

Descripción completa

Detalles Bibliográficos
Autores principales: Iyer, Rajesh Shankar, Thanikasalam, Krishnan, Mugundhan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307872/
https://www.ncbi.nlm.nih.gov/pubmed/25667867
http://dx.doi.org/10.1016/j.ebcr.2014.02.003
_version_ 1782354507893571584
author Iyer, Rajesh Shankar
Thanikasalam
Krishnan, Mugundhan
author_facet Iyer, Rajesh Shankar
Thanikasalam
Krishnan, Mugundhan
author_sort Iyer, Rajesh Shankar
collection PubMed
description Migrating partial seizures in infancy (MPSI) is a rare epilepsy syndrome with poor prognosis. The exact etiology of MPSI is still not known. We report a 14-month-old baby with 47XYY karyotype who presented with developmental delay and drug-refractory seizures satisfying the diagnostic criteria for MPSI and discuss the possible association between the 47XYY karyotype and this syndrome. The excess of genes due to an additional Y chromosome could cause disturbance in various stages of formation, migration, or differentiation of neurons. Depending on the degree of disturbance and the resultant cortical excitability, this could result in various epilepsy syndromes. We feel that this association is more likely causal than coincidental. Chromosome studies need to be performed in more individuals with atypical and uncommon epilepsies. Multicenter studies are required to establish the association between epilepsy syndrome and these rare chromosome disorders.
format Online
Article
Text
id pubmed-4307872
institution National Center for Biotechnology Information
language English
publishDate 2014
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-43078722015-02-09 Migrating partial seizures in infancy and 47XYY syndrome: Cause or coincidence? Iyer, Rajesh Shankar Thanikasalam Krishnan, Mugundhan Epilepsy Behav Case Rep Case Report Migrating partial seizures in infancy (MPSI) is a rare epilepsy syndrome with poor prognosis. The exact etiology of MPSI is still not known. We report a 14-month-old baby with 47XYY karyotype who presented with developmental delay and drug-refractory seizures satisfying the diagnostic criteria for MPSI and discuss the possible association between the 47XYY karyotype and this syndrome. The excess of genes due to an additional Y chromosome could cause disturbance in various stages of formation, migration, or differentiation of neurons. Depending on the degree of disturbance and the resultant cortical excitability, this could result in various epilepsy syndromes. We feel that this association is more likely causal than coincidental. Chromosome studies need to be performed in more individuals with atypical and uncommon epilepsies. Multicenter studies are required to establish the association between epilepsy syndrome and these rare chromosome disorders. Elsevier 2014-03-20 /pmc/articles/PMC4307872/ /pubmed/25667867 http://dx.doi.org/10.1016/j.ebcr.2014.02.003 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
spellingShingle Case Report
Iyer, Rajesh Shankar
Thanikasalam
Krishnan, Mugundhan
Migrating partial seizures in infancy and 47XYY syndrome: Cause or coincidence?
title Migrating partial seizures in infancy and 47XYY syndrome: Cause or coincidence?
title_full Migrating partial seizures in infancy and 47XYY syndrome: Cause or coincidence?
title_fullStr Migrating partial seizures in infancy and 47XYY syndrome: Cause or coincidence?
title_full_unstemmed Migrating partial seizures in infancy and 47XYY syndrome: Cause or coincidence?
title_short Migrating partial seizures in infancy and 47XYY syndrome: Cause or coincidence?
title_sort migrating partial seizures in infancy and 47xyy syndrome: cause or coincidence?
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307872/
https://www.ncbi.nlm.nih.gov/pubmed/25667867
http://dx.doi.org/10.1016/j.ebcr.2014.02.003
work_keys_str_mv AT iyerrajeshshankar migratingpartialseizuresininfancyand47xyysyndromecauseorcoincidence
AT thanikasalam migratingpartialseizuresininfancyand47xyysyndromecauseorcoincidence
AT krishnanmugundhan migratingpartialseizuresininfancyand47xyysyndromecauseorcoincidence