Abstract

SummaryFocal status epilepticus in POLG‐related mitochondrial disease is highly refractory to pharmacological agents, including general anesthesia. We report the challenges in managing a previously healthy teenager who presented with de novo epilepsia partialis continua and metabolic stroke resulting from the homozygous p.Ala467Thr POLG mutation, the most common pathogenic variant identified in the Caucasian population. We applied transcranial direct current stimulation (tDCS; 2 mA; 20 min) daily as an adjunctive therapy because her focal seizures failed to respond to five antiepileptic drugs at maximal doses. The electrical and clinical seizures stopped after 3 days of tDCS. The second course of tDCS was administered for 14 days when the focal seizures re‐emerged a month later. The patient tolerated the procedure well. Following 4 months of hospitalization and prolonged community rehabilitation, our patient has now returned to full‐time education with support, and there is no report of cognitive deficit. We have demonstrated the safety and efficacy of tDCS in treating refractory focal motor seizures caused by mitochondrial disease.

Highlights

  • The clinical manifestations of mitochondrial disease are heterogeneous,[1] and seizures affect approximately a quarter of adult patients.[2]

  • Refractory seizures have been long recognized as one presenting feature of Alpers-Huttenlocher syndrome (AHS) in early childhood caused by pathogenic variants in the POLG gene

  • Methods for transcranial direct current stimulation The clinical application of tDCS was approved as an emergency compassionate therapeutic intervention by the Newcastle upon Tyne Hospitals NHS Foundation Trust (NuTH) New Interventional Procedure Committee (NIPC) on a named patient basis

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Summary

Introduction

The clinical manifestations of mitochondrial disease are heterogeneous,[1] and seizures affect approximately a quarter of adult patients.[2].

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