Fever related super-refractory status epilepticus: An adulthood presentation of a novel POLG variant: A case report

Abstract

Mitochondrial DNA depletion syndromes caused by POLG mutations clinically constitute a heterogeneous group and can involve any part of the neuraxis [1]. Non-syndromic presentations that do not conform with the recognised classical POLG mutation syndromes are infrequently encountered, and given their protean manifestations, require a high index of suspicion to delineate from other more common aetiologies. Here we expand the FIRES (febrile infection-related status epilepticus)- like presentation of a novel POLG mutation in a twenty-eight-year-old lady, who had a complex medical history that included intellectual disability, behavioural changes, and initially well-controlled seizures.