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

SUBMITTER: Zhang J 

PROVIDER: S-EPMC10761346 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature