Neurology · Neurology / Mitochondrial disease; Pediatric neurology
Leigh syndrome
also: Subacute necrotizing encephalomyelopathy
Early-onset mitochondrial encephalopathy with bilateral brainstem and basal ganglia lesions.
- 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
- Alternative names & eponyms
- Subacute necrotizing encephalomyelopathy
Etiology & mechanism
OXPHOS defects from nuclear or mtDNA mutations.
Gene(s) involved (16)
BCS1L
COX
ECHS1
FBXL4
LRPPRC
MT-ATP6
MT-ND1-6
NDUFAF
NDUFS1
NDUFS4
NDUFS7
NDUFS8
NDUFV1
PDHA1
SDHA
SURF1
Symptoms & signs (8)
In plain terms, someone with Leigh syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Cerebral folate deficiency syndrome
ataxia, developmental regression, hypotonia
2 shared
Dravet syndrome
ataxia, developmental regression
2 shared
Joubert syndrome
ataxia, hypotonia
2 shared
Menkes syndrome
developmental regression, hypotonia
2 shared
Sengers syndrome
hypotonia, lactic acidosis
2 shared
Triple H syndrome
ataxia, vomiting
1 shared
Abetalipoproteinemia
ataxia
1 shared
Acquired cerebellar syndrome
ataxia
1 shared
Action myoclonus–renal failure syndrome
ataxia
1 shared
Acute fatty liver of pregnancy syndrome
vomiting
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