4th March 2024

An 18-year-old female presents to the neurology clinic with seizures

An 18-year-old female presents to the neurology clinic with seizures. Her mother reports that she had been well up to 14 years old. She began to develop involuntary twitches affecting her wrists and lower limbs. In the past two months, she has developed a generalised tonic-clonic seizure requiring admission to the acute medical unit, but this appears to have been controlled with sodium valproate. She has a broad-based gait and bilateral sensorineural hearing loss. Her lactate was persistently elevated throughout her last hospital stay at 3.8mmol/L ( normal 0.5-2.2mmol/L).

Which of the following likely represents her underlying diagnosis?

Select the SINGLE most appropriate option from the list below. Select ONE option only.