DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy
| dc.contributor.author | Alkan, Gülsüm | |
| dc.contributor.author | Emiroğlu, Melike Keser | |
| dc.contributor.author | Kartal, Ayşe | |
| dc.date.accessioned | 2020-03-26T19:34:53Z | |
| dc.date.available | 2020-03-26T19:34:53Z | |
| dc.date.issued | 2017 | |
| dc.department | Selçuk Üniversitesi | en_US |
| dc.description.abstract | 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. | en_US |
| dc.identifier.doi | 10.4103/jpn.JPN_92_17 | en_US |
| dc.identifier.endpage | 345 | en_US |
| dc.identifier.issn | 1817-1745 | en_US |
| dc.identifier.issn | 1998-3948 | en_US |
| dc.identifier.issue | 4 | en_US |
| dc.identifier.pmid | 29675073 | en_US |
| dc.identifier.scopusquality | Q3 | en_US |
| dc.identifier.startpage | 344 | en_US |
| dc.identifier.uri | https://dx.doi.org/10.4103/jpn.JPN_92_17 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.12395/34969 | |
| dc.identifier.volume | 12 | en_US |
| dc.identifier.wos | WOS:000432256700007 | en_US |
| dc.identifier.wosquality | N/A | en_US |
| dc.indekslendigikaynak | Web of Science | en_US |
| dc.indekslendigikaynak | Scopus | en_US |
| dc.indekslendigikaynak | PubMed | en_US |
| dc.language.iso | en | en_US |
| dc.publisher | MEDKNOW PUBLICATIONS & MEDIA PVT LTD | en_US |
| dc.relation.ispartof | JOURNAL OF PEDIATRIC NEUROSCIENCES | en_US |
| dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
| dc.rights | info:eu-repo/semantics/openAccess | en_US |
| dc.selcuk | 20240510_oaig | en_US |
| dc.subject | DiGeorge syndrome | en_US |
| dc.subject | epilepsy | en_US |
| dc.subject | neural tube defects | en_US |
| dc.title | DiGeorge Syndrome with Sacral Myelomeningocele and Epilepsy | en_US |
| dc.type | Article | en_US |
