Journal of Pediatric Case Reports

Leigh Syndrome

Journal of Pediatric Case Reports

Published October 21, 2025

DOI: 10.37549/JPCR-25-0010

Abstract

Leigh syndrome is a rare genetic neurometabolic disorder characterized by the degeneration of the central nervous system. The patient may present with progressive neurological deterioration and include loss of previously acquired motor skills, loss of appetite, vomiting, and irritability. As Leigh syndrome progresses, symptoms may also include a lack of muscle tone, brainstem dysfunction, and episodes of lactic acidosis. Imaging findings of Leigh syndrome consist of bilateral symmetrical hyperintense lesions in the brainstem and basal ganglia.

Keywords: syndrome, genetic, metabolic

Citation

abuZaineh A, Towbin RB, Morgan D, Schaefer CM, Towbin AJ. Leigh Syndrome. Journal of Pediatric Case Reports. 2025. doi:10.37549/JPCR-25-0010.

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