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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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
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author Koessler, Miriam
Haberlandt, Edda
Karall, Daniela
Baumann, Matthias
Höller, Alexander
Scholl‐Bürgi, Sabine
author_facet Koessler, Miriam
Haberlandt, Edda
Karall, Daniela
Baumann, Matthias
Höller, Alexander
Scholl‐Bürgi, Sabine
author_sort Koessler, Miriam
collection PubMed
description 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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spelling pubmed-78026232021-01-19 Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation Koessler, Miriam Haberlandt, Edda Karall, Daniela Baumann, Matthias Höller, Alexander Scholl‐Bürgi, Sabine JIMD Rep Case Reports 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. John Wiley & Sons, Inc. 2020-10-01 /pmc/articles/PMC7802623/ /pubmed/33473333 http://dx.doi.org/10.1002/jmd2.12169 Text en © 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Koessler, Miriam
Haberlandt, Edda
Karall, Daniela
Baumann, Matthias
Höller, Alexander
Scholl‐Bürgi, Sabine
Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation
title Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation
title_full Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation
title_fullStr Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation
title_full_unstemmed Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation
title_short Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation
title_sort ketogenic diet in a patient with refractory status epilepticus due to polg mutation
topic Case Reports
url 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
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