Vanishing white matter disease with different faces

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dc.contributor.authorGüngör, Gülay
dc.contributor.authorGüngör, Olcay
dc.contributor.authorÇakmaklı, Seda
dc.contributor.authorMaraş Genç, Hülya
dc.contributor.authorİnce, Hülya
dc.contributor.authorYeşil, Gözde
dc.contributor.authorDilber, Cengiz
dc.contributor.authorAydın, Kürşad
dc.date.accessioned2019-12-26T07:31:09Z
dc.date.available2019-12-26T07:31:09Z
dc.date.issued2020
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.description.abstractPurpose: The goal of this study was to better understand vanishing white matter (VWM) disease, which is one of the most common hereditary white matter disorders, and its relationship to radiologic features, genetic analyses, and clinical findings. Methods: We performed a study on 11 patients to describe the clinical and neuroimaging features of VWM. Patients were grouped into “infantile,” “early childhood,” and “juvenile” based on their onset age. EIF2B1–5 genes encoding five subunits of eukaryotic translation initiation factor 2B (eIF2B) were analyzed in all patients with clinically suspected VWM disease. Results: In brain magnetic resonance imaging (MRI), all patients showed white matter abnormalities with various degrees. The initial clinical presentation in five of patients was ataxia, with severe refractory epilepsy in three patients. In children with infantile-onset VWM, a rapid deterioration of motor function was detected, and the frequency of epilepsy was higher. Two patients showed manifestations of end-stage VWM disease, and one of them had chronic subdural hematoma. One of our patients and his father were diagnosed with Brugada syndrome. Sequencing of the exons and exon-intron boundaries of the EIF2B1–5 genes revealed mutations in the genes EIF2B5 (5 cases), EIF2B3 (3 cases), and EIF2B4 (2 cases). We also found a novel mutation in one patient: c.323_325delGAA in the EIF2B1 gene. Conclusions: In this study, in addition to classical clinical and radiological findings, we wanted to emphasize that we may be confronted with refractory epilepsy (early infancy), cardiac problems, and intracranial complications that may occur in advanced stages.
dc.identifier.citationGüngör, G., Güngör, O., Çakmaklı, S., Maraş Genç, H., İnce, H., Yeşil, G. ... Aydın, K. (2020). Vanishing white matter disease with different faces. Child's Nervous System, 36(2), 353-361. https://doi.org/10.1007/s00381-019-04334-6
dc.identifier.doi10.1007/s00381-019-04334-6
dc.identifier.endpage361
dc.identifier.issn0256-7040
dc.identifier.issn1433-0350
dc.identifier.issue2
dc.identifier.scopusqualityQ2
dc.identifier.startpage353
dc.identifier.urihttps://doi.org/10.1007/s00381-019-04334-6
dc.identifier.urihttps://hdl.handle.net/20.500.12511/4714
dc.identifier.volume36
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringer
dc.relation.ispartofChild's Nervous Systemen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectBrugada Syndrome
dc.subjectEIF2B Gene
dc.subjectEpilepsy
dc.subjectMRI
dc.subjectVanishing White Matter (VWM)
dc.titleVanishing white matter disease with different faces
dc.typeArticle

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