A case of Leigh syndrome presented with paroxysmal body swing

A case of Leigh syndrome presented with paroxysmal body swing

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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 Shoe Mat paroxysmal episode.It was determined Baby Crewneck Pullover 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.