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DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy

DiGeorge syndrome (DGS) is the most common microdeletion syndrome. The phenotype of DGS is highly variable involving facial, velopharyngeal, cardiac, immunologic, endocrinal, and neuropsychiatric abnormalities. Although neural tube defects (NTDs) have not been described as components of DGS in stand...

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Autores principales: Alkan, Gülsüm, Emiroglu, Melike Keser, Kartal, Ayse
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890554/
https://www.ncbi.nlm.nih.gov/pubmed/29675073
http://dx.doi.org/10.4103/jpn.JPN_92_17
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author Alkan, Gülsüm
Emiroglu, Melike Keser
Kartal, Ayse
author_facet Alkan, Gülsüm
Emiroglu, Melike Keser
Kartal, Ayse
author_sort Alkan, Gülsüm
collection PubMed
description DiGeorge syndrome (DGS) is the most common microdeletion syndrome. The phenotype of DGS is highly variable involving facial, velopharyngeal, cardiac, immunologic, endocrinal, and neuropsychiatric abnormalities. Although neural tube defects (NTDs) have not been described as components of DGS in standard pediatric textbooks, there have been a few case reports of DGS with NTDs. Furthermore, in patients with DGS, seizures can occur due to hypocalcemia or cortical dysgenesis. Few cases of epilepsy have been reported with NTDs without a cortical defect. Here, we report a case of an infant with DGS with a sacral myelomeningocele inherited from the mother. The infant developed epilepsy without hypocalcemia or cortical dysgenesis which is considered related to the sacral myelomeningocele.
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spelling pubmed-58905542018-04-19 DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy Alkan, Gülsüm Emiroglu, Melike Keser Kartal, Ayse J Pediatr Neurosci Case Report DiGeorge syndrome (DGS) is the most common microdeletion syndrome. The phenotype of DGS is highly variable involving facial, velopharyngeal, cardiac, immunologic, endocrinal, and neuropsychiatric abnormalities. Although neural tube defects (NTDs) have not been described as components of DGS in standard pediatric textbooks, there have been a few case reports of DGS with NTDs. Furthermore, in patients with DGS, seizures can occur due to hypocalcemia or cortical dysgenesis. Few cases of epilepsy have been reported with NTDs without a cortical defect. Here, we report a case of an infant with DGS with a sacral myelomeningocele inherited from the mother. The infant developed epilepsy without hypocalcemia or cortical dysgenesis which is considered related to the sacral myelomeningocele. Medknow Publications & Media Pvt Ltd 2017 /pmc/articles/PMC5890554/ /pubmed/29675073 http://dx.doi.org/10.4103/jpn.JPN_92_17 Text en Copyright: © 2018 Journal of Pediatric Neurosciences 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
Alkan, Gülsüm
Emiroglu, Melike Keser
Kartal, Ayse
DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy
title DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy
title_full DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy
title_fullStr DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy
title_full_unstemmed DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy
title_short DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy
title_sort digeorge syndrome with sacral myelomeningocele and epilepsy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890554/
https://www.ncbi.nlm.nih.gov/pubmed/29675073
http://dx.doi.org/10.4103/jpn.JPN_92_17
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