Üstyol Ala, Takahashi Satoru, Hatipoğlu Halil Uğur, Duman Mehmet Ali, Elevli Murat, Selçuk-Duru Hatice Nilgün
Department of Pediatrics, University of Health Sciences Haseki Training and Research Hospital, İstanbul, Turkey.
Department of Pediatrics, Asahikawa Medical College, Asahikawa, Hokkaido, Japan.
Turk J Pediatr. 2019;61(6):946-948. doi: 10.24953/turkjped.2019.06.018.
Üstyol A, Takahashi S, Hatipoğlu HU, Duman MA, Elevli M, Selçuk Duru HN. A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient. Turk J Pediatr 2019; 61: 946-948. GLUT-1 deficiency syndrome is a rare, frequently unrecognized metabolic encephalopathy that is probably underdiagnosed. Although developmental delay, acquired microcephaly, spasticity, and impaired coordination were initially described as the classic findings, mild cases with no pronounced neuromotor compromise have since been included in the broad clinical spectrum with new mutations being identified more recently. We report a case of myoclonic seizures not responding to anti-epileptics since the age of one year in a 17-year-old patient with a normal phenotype and neuromotor development. Previously unreported p.Phe389Leu mutation was determined in the SLC2A1 gene in our patient. This case will be useful in clarifying the phenotype of GLUT-1 deficiency and reveals a new pathogenic mutation.
于斯泰奥尔·A、高桥·S、哈蒂波卢·H·U、杜曼·M·A、埃莱夫利·M、塞尔库克·杜鲁·H·N。SLC2A1基因的一种新突变导致一名年轻成年患者出现葡萄糖转运蛋白1缺乏综合征。《土耳其儿科学杂志》2019年；61: 946 - 948。葡萄糖转运蛋白1缺乏综合征是一种罕见的、常常未被认识的代谢性脑病，可能诊断不足。尽管发育迟缓、后天小头畸形、痉挛和协调能力受损最初被描述为典型表现，但此后无明显神经运动损害的轻症病例也被纳入广泛的临床谱，且最近发现了新的突变。我们报告一例17岁患者，自1岁起出现对抗癫痫药无反应的肌阵挛发作，其表型和神经运动发育正常。在我们的患者中，SLC2A1基因检测到先前未报道的p.Phe389Leu突变。该病例将有助于明确葡萄糖转运蛋白1缺乏综合征的表型，并揭示一种新的致病突变。
