De Giorgis Valentina, Ferraris Cinzia, Brena Mario Leo, Farris Giorgio, Gentilino Valerio, Guglielmetti Monica, Marazzi Claudia, Pasca Ludovica, Trentani Claudia, Tagliabue Anna, Varesio Costanza
Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Member of ERN-EpiCARE, Pavia, Italy.
Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
Front Nutr. 2023 Feb 15;10:1114386. doi: 10.3389/fnut.2023.1114386. eCollection 2023.
Ketogenic Dietary Treatments (KDTs) are to date the gold-standard treatment for glucose transporter type 1 (GLUT1) deficiency syndrome. Administration of KDTs is generally ; however, in some conditions including the acute gastro-enteric post-surgical setting, short-term parenteral (PN) administration might be needed. We report the case of a 14-year-old GLUT1DS patient, following classic KDT for many years, who underwent urgent laparoscopic appendectomy. PN-KDT was required, after 1 day of fasting. No PN-KDTs products were available and the patient received infusions of OLIMEL N4 (Baxter). On the sixth day postoperatively enteral nutrition was progressively reintroduced. The outcome was optimal with rapid recovery and no exacerbation of neurological manifestations. Our patient is the first pediatric patient with GLUT1DS in chronic treatment with KDT efficiently treated with exclusive PN for five days. This case reports on real-word management and the ideal recommendations for PN-KDT in an acute surgical setting.
生酮饮食疗法（KDTs）是迄今为止1型葡萄糖转运体（GLUT1）缺乏综合征的金标准治疗方法。KDTs的给药方式通常是……；然而，在某些情况下，包括急性胃肠手术后的情况，可能需要短期肠外营养（PN）给药。我们报告了一例14岁的GLUT1缺乏综合征（GLUT1DS）患者，该患者多年来一直遵循经典的KDT，接受了紧急腹腔镜阑尾切除术。禁食1天后需要进行肠外营养-生酮饮食疗法（PN-KDT）。当时没有PN-KDT产品，患者接受了OLIMEL N4（百特公司）的输注。术后第六天逐渐重新引入肠内营养。结果是最佳的，患者恢复迅速，神经症状没有加重。我们的患者是首例长期接受KDT治疗的GLUT1DS儿科患者，成功接受了为期五天的全肠外营养治疗。本病例报告了急性手术环境中PN-KDT的实际管理和理想建议。
