[Super-refractory status epilepticus caused by hereditary mitochondrial disease]
Niels Bach Sørensen1, Kristina Stamenkovic2, Ellen Hollands Steffensen3
1Børne- og Ungeafdelingen, Aalborg Universitetshospital.
None:
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 Due to poor prognosis and deterioration, treatment was withdrawn, and she died in ICU.
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