Pyridoxine-dependent seizures

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dc.authoridYakıncı, Mehmet Cengiz/0000-0001-5930-4269
dc.authorwosidYakıncı, Mehmet Cengiz/ABI-7519-2020
dc.contributor.authorUlvi, H
dc.contributor.authorMüngen, B
dc.contributor.authorYakinci, C
dc.contributor.authorYoldas, T
dc.date.accessioned2024-08-04T20:13:10Z
dc.date.available2024-08-04T20:13:10Z
dc.date.issued2002
dc.departmentİnönü Üniversitesien_US
dc.description.abstractPyridoxine-dependency is a rare autosomal recessive disorder causing a severe seizure disorder of neonatal onset. There are a few reports including neuroimaging studies, such as cranial CT and MRI, and one report with longitudinal MRI findings in two cases with pyridoxine-dependent seizures (PDS). We report long-term follow-up of two siblings with PDS in the light of clinical, EEG, CT and MRI findings, and pyridoxine treatment. The first patient, an 8-year-old female who had neonatal seizures, has sequential cranial CT and MRIs which are normal except for mega cistema magna thus far. She still has mild mental retardation, although the accurate diagnosis was made when she was 6 years old and pyridoxine treatment was initiated. The second patient, a 1-year-old female, who is the younger sibling of the first patient, presented with neonatal seizures and PDS was diagnosed immediately, with resulting pyridoxine treatment (10 mg/kg/day). She is now neurologically normal, seizurefree, and has sequential normal CT and MRIs. These patients show rather benign clinical courses.en_US
dc.identifier.doi10.1093/tropej/48.5.303
dc.identifier.endpage306en_US
dc.identifier.issn0142-6338
dc.identifier.issue5en_US
dc.identifier.pmid12405174en_US
dc.identifier.scopus2-s2.0-0036796926en_US
dc.identifier.scopusqualityN/Aen_US
dc.identifier.startpage303en_US
dc.identifier.urihttps://doi.org/10.1093/tropej/48.5.303
dc.identifier.urihttps://hdl.handle.net/11616/93441
dc.identifier.volume48en_US
dc.identifier.wosWOS:000178120600010en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherOxford Univ Pressen_US
dc.relation.ispartofJournal of Tropical Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectBrainen_US
dc.subjectGlutamateen_US
dc.subjectEpilepsyen_US
dc.subjectDiseaseen_US
dc.subjectEegen_US
dc.titlePyridoxine-dependent seizuresen_US
dc.typeArticleen_US

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