Please use this identifier to cite or link to this item: 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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