文章基本信息

标题：GLUT1 deficiency syndrome: A case report with a novel SLC2A1 mutation
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作者：Ivančević, Nikola ; Cerovac, Nataša ; Nikolić, Blažo 等
期刊名称：Vojnosanitetski pregled
印刷版ISSN：0042-8450
出版年度：2019
卷号：76
期号：5
页码：543-546
DOI：10.2298/VSP170406120I
出版社：Military Medical Academy, INI
摘要：Introduction. GLUT1 deficiency syndrome (GLUT1 DS, OMIM 606777) is a metabolic brain disorder caused by mutations in SLC2A1 gene (chromosome 1) encoding glucose transporter type 1 located on blood-brain membrane. The “classic” phenotype in children includes early onset generalized farmacoresistant epilepsy, developmental delay, complex movement disorders and acquired microcephaly. However, there are milder phenotypes without epilepsy which could be seen in older children. The ketogenic diet is a treatment of choice. Case report. We present a four-yearold female patient with farmacoresistant generalized epilepsy, paroxysmal dystonic posturing, ataxia, hypotonia, developmental delay (motor, attention and speech disturbances), and microcephaly. The genetic testing revealed a novel point mutation at c.156T > A (p.Y52X) in exon 3 of SLC2A1 gene. The patient responded excellent on ketogenic diet. Conclusion. GLUT1 DS is treatable, and likely to be under-diagnosed neurological disorder. The ketogenic diet is resulting in good control of seizures in the patients, and it has certain benefit for the neurodevelopmental disability. [Project of the Serbian Ministry of Education, Science and Technological Development, Grant no. ON175091]
关键词：glut1 deficiency syndrome; diagnosis; diet ketogenic; treatment outcome