Leigh syndrome

Also known as: Subacute necrotizing encephalomyelopathy

Early-onset mitochondrial encephalopathy with bilateral brainstem and basal ganglia lesions.

Medical specialty: Neurology
Subspecialty: Neurology / Mitochondrial disease; Pediatric neurology
Sex & age distribution: Male: slight excess in X-linked forms (PDHA1); Female: affected; Children: yes, usually infancy to early childhood; rarely adult
Gene(s) involved: BCS1L, COX, ECHS1, FBXL4, LRPPRC, MT-ATP6, MT-ND1-6, NDUFAF, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, PDHA1, SDHA, SURF1

Etiology & mechanism

OXPHOS defects from nuclear or mtDNA mutations.

Gene(s) involved (16)

BCS1LCOXECHS1FBXL4LRPPRCMT-ATP6MT-ND1-6NDUFAFNDUFS1NDUFS4NDUFS7NDUFS8NDUFV1PDHA1SDHASURF1

Symptoms & signs (8)

ataxiabrainstem signsdevelopmental regressiondystoniahypotonialactic acidosisrespiratory failurevomiting

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.