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

ABSTRACT: A 21-year-old woman developed explosive new-onset refractory status epilepticus when 18 weeks pregnant. She had been previously well with no history of seizures and a normal developmental history. She had initially presented with focal impaired awareness seizures but subsequently developed status epilepticus requiring intensive care unit admission and was successfully treated with multiple anti-seizure medications. Once stabilised she was stepped down to the inpatient neurology ward and then transferred to the tertiary centre for a planned late termination of pregnancy, which was the patient's choice. Following transfer, she again developed refractory status epilepticus, requiring intensive care readmission. Subsequent investigations identified a compound heterozygous POLG genetic mutation

SUBMITTER: Levee V 

PROVIDER: S-EPMC11877079 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature