Kramer Jennifer, Smith Lisa
Riley Hospital for Children at Indiana University Health, Indianapolis, IN, USA.
Child Neurol Open. 2021 Sep 13;8:2329048X211034655. doi: 10.1177/2329048X211034655. eCollection 2021 Jan-Dec.
A 19-year-old woman with glucose transporter type 1 deficiency syndrome (Glut1DS) treated with ketogenic diet therapy (KDT) became pregnant. Her pregnancy included close monitoring of her diet as well as the fetus. Shortly after delivery, a lumbar puncture was performed followed by confirmatory genetic test diagnosing the neonate with Glut1DS. The neonate was placed on KDT and has been maintained on diet since infancy. The child is now 5 years of age, asymptomatic, and excelling developmentally. This case presents 2 management challenges, that of a patient with Glut1DS during pregnancy followed by managing a neonate on KDT with minimal guidance available in the literature due to the relative rarity of the condition and this unique situation.
一名接受生酮饮食疗法（KDT）治疗的19岁1型葡萄糖转运体缺乏综合征（Glut1DS）女性怀孕了。她的孕期包括对其饮食以及胎儿进行密切监测。分娩后不久，进行了腰椎穿刺，随后通过基因检测确诊新生儿患有Glut1DS。新生儿开始接受KDT治疗，自婴儿期起一直坚持该饮食。孩子现在5岁，无症状，发育良好。该病例呈现出两个管理挑战，一是孕期Glut1DS患者的管理，二是由于该病相对罕见以及这种特殊情况，在文献中可获取的指导极少的情况下对接受KDT治疗的新生儿进行管理。
