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

We present a 16‐year‐old female patient with POLG 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 li...

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Detalles Bibliográficos
Autores principales: Koessler, Miriam, Haberlandt, Edda, Karall, Daniela, Baumann, Matthias, Höller, Alexander, Scholl‐Bürgi, Sabine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7802623/
https://www.ncbi.nlm.nih.gov/pubmed/33473333
http://dx.doi.org/10.1002/jmd2.12169
Descripción
Sumario:We present a 16‐year‐old female patient with POLG 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 POLG disease.

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