Article
Leigh syndrome: an adult presentation of a paediatric disease.
Practical neurology - 23 Jan 2024
Watson-Fargie Taylor, Marshall Victoria, Fullerton Natasha E, Leach Veronica, Pilz Daniela, Hemingbrough Charlotte V Y, Hopton Sila, Taylor Robert W, Ng Yi S, Schaefer Andrew, Gorman Gráinne S, Farrugia Maria Elena
Abstract excerpt
A previously healthy 27-year-old man was admitted to the acute neurology ward with events involving his face, throat and upper limb, which video telemetry later confirmed were refractory focal seizures. He also had progressive pyramidal features, dysarthria and ataxia. MR scans of the brain identified progressive bilateral basal ganglia abnormalities, consistent with Leigh syndrome. However, extensive laboratory...
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