POLG epilepsy presenting as new onset refractory status epilepticus (NORSE) in pregnancy

<h3>Background</h3> POLG-related epilepsy is a common presentation of neurological disease related to mutations in the POLG gene. The age of onset ranges from early life to adolescence, and less commonly presents in late adulthood. It has a diverse array of clinical manifestations including explosive onset of highly pharmaco-resistant seizures and new onset prolonged refractory status epilepticus (Hikmat et al., 2020). Although rare, it is an important differential to consider as an underlying aetiology of epilepsy syndromes. Treatment is complex as the epilepsy phenotype is often severe and pharmacoresistant. Achieving seizure freedom requires a multi-modal and multi-disciplinary approach. <h3>Case Summary</h3> We present the case of a 21-year-old woman who developed new-onset refractory status epilepticus (NORSE) when she was 18 weeks pregnant. She had no history of previous seizures and an unremarkable medical history, including a normal developmental history. She was transferred to our hospital for a planned late termination of pregnancy (as per the patient choice). The day before the procedure, she developed status epilepticus and required intensive care support. Seizure control was difficult, requiring multiple antiseizure medications and anaesthetic agents. Subsequent investigations confirmed a pathogenic POLG genetic mutation. On follow-up review several months later, she has had no further generalised seizures but does have ongoing occasional myoclonus. We discuss challenges faced in the acute clinical situation and highlight important considerations in diagnosing and managing patients with POLG-related epilepsy.