Abstract
Background
Here, we present a case of superrefractory status epilepticus (SRSE) in a 23-year-old female with underlying mitochondrial epilepsy and a homoplastic pathogenic variant (m.616T > C) in the MT-TF gene.
Case Presentation:
Following a recent long-haul flight, the patient experienced breakthrough seizures and initially responded to oral levetiracetam and clonazepam but subsequently developed status epilepticus (SE), necessitating intubation, ventilation and multiple antiepileptic drugs (AEDs). Multiple computerized tomography scans of the brain and cerebrospinal fluid biochemistry were unremarkable. The patient’s seizures remained refractory, and thiopentone infusion was initiated, resulting in burst suppression. Transcranial magnetic stimulation resulted in intermittent seizure-free intervals with abnormal electroencephalogram (EEG) waveforms. The patient was transferred to the intensive care unit (ICU), where her SRSE persisted despite receiving levetiracetam, perampanel, lacosamide, and escalating doses of midazolam, propofol and fentanyl intravenous infusions with clonazepam, clobazam and lamotrigine subsequently added. Electroconvulsive therapy temporarily halted epileptiform activity but resulted in orofacial dyskinesia. Tracheostomy was performed to facilitate weaning from mechanical ventilation and discharge from the ICU.
Conclusion
This case highlights the challenges encountered in managing SRSE associated with mitochondrial epilepsy. Multiple treatment modalities are necessary to achieve seizure control. Further research and treatment strategies are needed to optimize outcomes in patients with mitochondrial epilepsy and refractory seizures.