Annals of Clinical Neurophysiology

The Korean Society of Clinical Neurophysiology (대한임상신경생리학회)
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Adult-onset Leigh syndrome due to m.9176T>C mutation with cortical involvement

  • Lee, Hyuk-je (Department of Neurology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Lee, Myungah (Department of Neurology, Uijeongbu St. Mary's Hospital, College of Medicine, The Catholic University of Korea) ;
  • Lee, Jung Hwan (Department of Neurology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea)
  • Received : 2022.08.16
  • Accepted : 2022.09.27
  • Published : 2022.10.30
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Abstract

We describe the case of a 22-year-old female complaining of ophthalmoplegia, which deteriorated with seizure. Leigh syndrome (LS) was diagnosed by identifying the m.9176T>C mutation. She improved with vitamin cocktail therapy plus intravenous methylprednisolone, and had an excellent prognosis. This was the first case of an adult patient with LS presenting with the m.9176T>C mutation and reporting cortical symptoms, which in this case comprised cortical vision loss, and cortical, basal ganglia, and brainstem signal changes on magnetic resonance imaging.

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References

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