Heliyon (Jan 2024)
A case of Leigh syndrome presented with paroxysmal body swing
Abstract
Background: Leigh syndrome (LS) is a heterogeneous neurodegenerative disease that is the most common manifestation of mitochondrial disease in children. Methods: We report a case of Leigh syndrome with paroxysmal body swing in a 1-year-old boy. Results: The boy presented with paroxysmal body swing, and the electroencephalogram showed no epileptic discharge during the paroxysmal episode. It was determined to be a nonepileptic seizure, which was the first LS phenotype described. After treatment with a vitamin cocktail, the paroxysmal body swing improved. Conclusion: LS should be considered for children with onset of infantile and paroxysmal body swing combined with developmental regression, and early mitochondrial genetic testing can aid in diagnosis and guide early intervention.