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针对因突变导致难治性癫痫持续状态患者的生酮饮食。

Ketogenic diet in a patient with refractory status epilepticus due to mutation.

作者信息

Koessler Miriam, Haberlandt Edda, Karall Daniela, Baumann Matthias, Höller Alexander, Scholl-Bürgi Sabine

机构信息

Department of Pediatrics I, Neuropediatrics Medical University of Innsbruck Innsbruck Austria.

Department of Pediatrics Hospital Dornbirn Dornbirn Austria.

出版信息

JIMD Rep. 2020 Oct 1;57(1):3-8. doi: 10.1002/jmd2.12169. eCollection 2021 Jan.

Abstract

We present a 16-year-old female patient with syndrome, treated with ketogenic diet after she presented with refractory status epilepticus. Initially, benefit of the ketogenic diet could be seen, but the outcome was fatal, with death 3 months after presenting symptoms. Additionally, we give a literature review of the utility of ketogenic diet in patients with disease.

摘要

我们报告一名患有[具体综合征名称未给出]综合征的16岁女性患者,在出现难治性癫痫持续状态后接受了生酮饮食治疗。最初,可观察到生酮饮食的益处,但结果是致命的,出现症状3个月后死亡。此外,我们对生酮饮食在[具体疾病名称未给出]疾病患者中的应用进行了文献综述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/91a0/7802623/3c582291ab72/JMD2-57-3-g001.jpg

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