Ann Clin Neurophysiol.  2022;24(2):107-110. 10.14253/acn.2022.24.2.107.

Adult-onset Leigh syndrome due to m.9176T>C mutation with cortical involvement

• Lee Hj
• Lee M
• Lee JH

• KMID: 2535729
• DOI: http://doi.org/10.14253/acn.2022.24.2.107

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.

Keyword

Leigh disease; Mitochondrial diseases; MELAS syndrome

Figure

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  Fig. 1. Pedigree of the patient. The patient had two older brothers, both of whom had complained of diplopia or gait disturbance. The older brother complained of diplopia at 12 years old and gait disturbance during his 20s, but recovered spontaneously and survived. The younger brother died when he was 5 years old, a few weeks after gait disturbance had been observed. No family member other than the patient received genetic testing. Pt, patient.

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  Fig. 2. (A) An axial T2-weighted image obtained on admission showed a high signal intensity (SI) in the dorsal midbrain, but no signal change in the cortex (B) or in the cerebellum. (C) An axial T2-weighted image obtained after aggravation showed a high SI in the bilateral occipital cortex (arrows). (D) In an axial T2-weighted image obtained after aggravation, a high SI also presented in the bilateral cerebellum. (E) An axial T2-weighted image obtained 16 months after discharge revealed a decrease in the extent of the high SIs in the dorsal midbrain, occipital cortex, and (F) bilateral cerebellum.

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