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https://hdl.handle.net/11499/37263
Title: | Vanishing white matter disease with different faces | Authors: | Güngör, Gülay Güngör, Olcay Çakmaklı, S. Maraş Genç, H. İnce, H. Yeşil, G. Dilber, C. |
Keywords: | Brugada syndrome EIF2B gene Epilepsy MRI Vanishing white matter (VWM) anticonvulsive agent complementary DNA guanine nucleotide exchange factor lamotrigine levetiracetam topiramate valproic acid Article ataxia child clinical article clinical feature consanguineous marriage convulsion deterioration drug resistant epilepsy dystonia electrocardiography epilepsy exon female first cousin follow up gene deletion gene mutation genetic analysis genetic disorder head injury heart arrhythmia high throughput sequencing human intron macrocephaly male missense mutation motor performance myoclonus seizure neuroimaging nuclear magnetic resonance imaging onset age optic nerve atrophy phenotypic variation pneumonia priority journal speech disorder subdural hematoma tonic seizure upper respiratory tract infection urinary tract infection vanishing white matter disease white matter lesion |
Publisher: | Springer | Abstract: | Purpose: 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. © 2019, Springer-Verlag GmbH Germany, part of Springer Nature. | URI: | https://hdl.handle.net/11499/37263 https://doi.org/10.1007/s00381-019-04334-6 |
ISSN: | 0256-7040 |
Appears in Collections: | PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection Tıp Fakültesi Koleksiyonu WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection |
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