Leigh's disease

This code represents Leigh's disease, a severe, inherited neurometabolic disorder characterized by progressive psychomotor regression and brainstem and basal ganglia lesions. It typically manifests in infancy or early childhood, leading to significant neurological dysfunction and often early death. The condition results from defects in mitochondrial energy production.

Use this code for patients diagnosed with Leigh's disease, confirmed through clinical presentation, neuroimaging findings (e.g., bilateral symmetric lesions in the brainstem or basal ganglia), and often genetic testing or biochemical analysis. Documentation should clearly indicate the diagnosis of Leigh's disease, including its progressive nature and associated neurological deficits.

• Ensure documentation specifies "Leigh's disease" and not just general mitochondrial disease, as more specific codes exist.
• Code any associated neurological manifestations or complications (e.g., seizures, respiratory failure) separately.
• Consider genetic counseling and testing codes if performed as part of the diagnostic workup.