# Presentation, Treatment, and Outcome of a First Stroke-like Episode in a Carrier of the Compound Heterozygous Variants c.695G_A and c.2209G_C in POLG: A Case Report

## TL;DR

A 19-year-old woman with POLG mutations experienced a first stroke-like episode and seizures, highlighting the complex clinical presentation and treatment challenges of this genetic condition.

## Contribution

This is the first reported case of POLG-related polyneuropathy progressing to a stroke-like episode and seizures in a carrier of compound heterozygous POLG variants.

## Key findings

- The patient's POLG mutations initially presented as polyneuropathy and later as a stroke-like episode with seizures.
- Treatment of status epilepticus required thiopental anesthesia, while levetiracetam, lacosamide, and perampanel showed long-term efficacy.
- The stroke-like lesion initially worsened before regressing under treatment with glucocorticoids, NO precursors, and antioxidants.

## Abstract

In this report, we describe the case of a 19-year-old female patient with two heterozygous POLG variants in different exons manifesting phenotypically as polyneuropathy and later with a first stroke-like episode (SLE) and seizures. This has not been reported earlier. The patient suffered from POLG-related neuropathy since the age of 14 and was admitted for her first SLE, which manifested clinically as hemianopia and two days later led to impaired consciousness, hemiparesis, seizures, and status epilepticus. Cerebral MRI showed a corresponding stroke-like lesion (SLL) in the right occipital lobe. The seizures were treated with levetiracetam, lacosamide, and perampanel, but the treatment of status epilepticus required anesthesia with thiopental, ketamine, and midazolam. In addition, glucocorticoids, nitric oxide (NO) precursors, and antioxidants were administered. Under this treatment, the SLL initially increased in size and intensity before regressing. After extubation, recurrent focal motor status epilepticus occurred, which could be stopped with midazolam. This case shows that POLG mutations can initially manifest phenotypically with polyneuropathy and SLE, which occurs before the onset of seizures, status epilepticus due to POLG variants may require thiopental anesthesia and that levetiracetam, lacosamide, and perampanel may have a favorable long-term effect on seizure activity in carriers of POLG mutations.