Güngör Gülay, Güngör Olcay, Çakmaklı Seda, Maraş Genç Hülya, İnce Hülya, Yeşil Gözde, Dilber Cengiz, Aydın Kürşad
Department of Radiology, Faculty of Medicine, Pamukkale University, Denizli, Turkey.
Department of Pediatric Neurology, Faculty of Medicine, Pamukkale University, 20100, Denizli, Turkey.
Childs Nerv Syst. 2020 Feb;36(2):353-361. doi: 10.1007/s00381-019-04334-6. Epub 2019 Aug 5.
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.
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.
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.
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.
本研究的目的是更好地了解消失性白质（VWM）病，这是最常见的遗传性白质疾病之一，及其与放射学特征、基因分析和临床发现的关系。
我们对11例患者进行了研究，以描述VWM的临床和神经影像学特征。根据发病年龄将患者分为“婴儿期”、“幼儿期”和“青少年期”。对所有临床疑似VWM病的患者分析编码真核翻译起始因子2B（eIF2B）五个亚基的EIF2B1-5基因。
在脑磁共振成像（MRI）中，所有患者均显示不同程度的白质异常。5例患者的初始临床表现为共济失调，3例患者有严重难治性癫痫。在婴儿期发病的VWM儿童中，检测到运动功能迅速恶化，癫痫发作频率更高。2例患者表现为VWM病终末期，其中1例有慢性硬膜下血肿。我们的1例患者及其父亲被诊断为Brugada综合征。EIF2B1-5基因外显子和外显子-内含子边界的测序显示EIF2B5基因（5例）、EIF2B3基因（3例）和EIF2B4基因（2例）存在突变。我们还在1例患者中发现了一个新的突变：EIF2B1基因中的c.323_325delGAA。
在本研究中，除了经典的临床和放射学发现外，我们想强调的是，我们可能会遇到难治性癫痫（婴儿早期）、心脏问题以及晚期可能出现的颅内并发症。
