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Article

Distinct Imaging Markers of Leigh's Disease Linked to SURF1 Mutation: A Pediatric Case Study.

The American journal of case reports - 31 Jul 2024

Narra Rama Krishna, Vemuri Reshma

Abstract excerpt

BACKGROUND Leigh disease (LD) is a rare progressive mitochondrial neurodegenerative disorder characterized by subacute necrotizing encephalopathy and symmetrical spongiform lesions in the brain. Cytochrome C oxidase deficiencies due to SURF1 Cytochrome C Oxidase Assembly Factor (SURF1) gene mutations are seen only in 15% of LD cases. Consideration of these genetic mutations in young patients is crucial for early...

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Identifiers

PMID: 39080924
DOI: 10.12659/AJCR.944514
PMCID: PMC11318735

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