Super-refractory status epilepticus caused by hereditary mitochondrial disease

Ugeskrift for Læger 2026 Open access

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Authors: Niels Bach Sørensen, Kristina Stamenkovic, Ellen Hollands Steffensen, Inge Ring Kofoed
DOI: 10.61409/v07250609
Cited by: 0

Abstract

In this case report, we present an 11-year-old girl who developed super-refractory status epilepticus (SRSE) after focal seizures. Initial investigations, including MRI, CSF analysis, and autoimmune panels, were normal. Despite extensive treatment with several anti-seizure medications, immunotherapy, attempt of treatment with ketogenic diet and anesthetic infusions targeting burst-suppression, no improvement occurred. Trio whole genome sequencing revealed compound heterozygous pathogenic variants in POLG, confirming mitochondrial disease. Due to poor prognosis and deterioration, treatment was withdrawn, and she died in ICU.

Fields of Study & Subjects

Epilepsy research and treatment Mitochondrial Function and Pathology Metabolism and Genetic Disorders

Publication details

Journal / source
Ugeskrift for Læger
Volume
188
Issue
5
Pages
1–4
Publication date
26 January 2026
Language
DA