Department of Paediatric Neurosciences, St George's University Hospitals NHS Foundation Trust, London, UK.
Department of Medical Genetics, St George's University Hospitals NHS Foundation Trust, London, UK.
Eur J Paediatr Neurol. 2018 Nov;22(6):1161-1164. doi: 10.1016/j.ejpn.2018.02.002. Epub 2018 Feb 9.
Glucose transporter type 1 (GLUT1) deficiency syndrome is a well recognised genetic neurometabolic disorder typically presenting with progressive encephalopathy, acquired microcephaly and drug-resistant epilepsy. Imaging is normal in the majority. Here we describe a 5-month-old boy who presented with motor delay, myoclonic jerks and tonic-clonic seizures. His MRI brain scan revealed confluent symmetrical T2 hyperintense signal abnormality in both anterior frontal lobes and delayed myelination. Neurometabolic screen revealed low CSF glucose and lactate levels. A pathogenic de novo heterozygous mutation in SLC2A1 (c.275+1G > A) confirmed the diagnosis of GLUT1 deficiency. Ketogenic diet resulted in a dramatic termination of his seizures at 72 h. At 15 months, he continued to be seizure free with marked developmental catch up. Repeat imaging revealed a significant resolution of the previously seen changes. This case suggests that GLUT1 deficiency should be considered in the differential diagnosis of infants with suspected genetic leukoencephalopathies with important treatment implications.
葡萄糖转运蛋白 1 型（GLUT1）缺乏症是一种公认的遗传性神经代谢疾病，其特征通常为进行性脑病、获得性小头畸形和耐药性癫痫。大多数患者的影像学检查正常。本文描述了一名 5 月龄男婴，表现为运动发育迟缓、肌阵挛性抽搐和强直-阵挛性发作。其头部 MRI 显示双侧额前部融合性对称 T2 高信号异常，伴髓鞘化延迟。神经代谢筛查显示脑脊液葡萄糖和乳酸水平降低。SLC2A1（c.275+1G > A）的新生杂合致病性突变证实了 GLUT1 缺乏症的诊断。生酮饮食在 72 小时内显著终止了他的癫痫发作。15 个月时，他继续无癫痫发作，且发育明显追赶。重复影像学检查显示先前所见的变化明显缓解。该病例提示，对于疑似遗传性脑白质病的婴儿，应考虑 GLUT1 缺乏症作为鉴别诊断，具有重要的治疗意义。
