
Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation
Author(s) -
Koessler Miriam,
Haberlandt Edda,
Karall Daniela,
Baumann Matthias,
Höller Alexander,
SchollBürgi Sabine
Publication year - 2021
Publication title -
jimd reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.412
H-Index - 25
ISSN - 2192-8312
DOI - 10.1002/jmd2.12169
Subject(s) - ketogenic diet , status epilepticus , medicine , refractory (planetary science) , pediatrics , disease , epilepsy , biology , psychiatry , astrobiology
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.