5C53.24

ICD-11 MMS 2026-01

Leigh syndrome

Description

Leigh syndrome or subacute necrotizing encephalomyelopathy is a progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. Loss of motor milestones, hypotonia with poor head control, recurrent vomiting, and a movement disorder are common initial symptoms. Pyramidal and extrapyramidal signs, nystagmus, breathing disorders, ophthalmoplegia and peripheral neuropathy are often noted later. Epilepsy is relatively uncommon. Leigh syndrome has multiple causes, all of which imply a defect in aerobic energy production, ranging from the pyruvate dehydrogenase complex to the oxidative phosphorylation pathway.

Index terms

  • Leigh syndrome
  • Infantile subacute necrotizing encephalopathy
  • Leigh disease
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  • Subacute necrotising encephalopathy
  • subacute necrotising encephalomyelopathy
  • Leigh syndrome due to cytochrome C oxidase deficiency
  • Leigh syndrome with cardiomyopathy
  • Cardiomyopathy - hypotonia, due to cytochrome C oxidase deficiency
  • Cardiomyopathy with myopathy due to COX deficiency
  • Leigh syndrome with leukodystrophy
  • Infantile subacute necrotizing encephalopathy with leukodystrophy
  • Leigh syndrome with nephrotic syndrome
  • Saguenay-Lac-Saint-Jean cytochrome C oxidase deficiency
  • COX deficiency, French-Canadian type
  • French-Canadian cytochrome C oxidase deficiency
  • Leigh syndrome, French-Canadian type
  • Leigh syndrome, Saguenay-Lac-St. Jean type
  • SLSJ-COX - [Saguenay-Lac-Saint-Jean cytochrome C oxidase] deficiency
  • Dystonia due to Leigh syndrome
  • Dystonia due to subacute necrotizing encephalomyelopathy
  • Sporadic Leigh syndrome
  • Sporadic infantile subacute necrotizing encephalopathy

Exclusions from above levels

  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
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  • 5A81.1 – 5-alpha-reductase deficiency
  • LD28.01 – Marfan syndrome
  • LD28.1 – Ehlers-Danlos syndrome
  • LD2A.4 – androgen resistance syndrome
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

  • 5C53.20 – Mitochondrial DNA depletion syndromes
  • 5C53.21 – Multiple mitochondrial DNA deletion syndromes
  • 5C53.22 – Coenzyme Q10 deficiency
  • 5C53.23 – Mitochondrial protein translation defects
  • 5C53.25 – Isolated ATP synthase deficiency
  • 5C53.2Y – Other specified disorders of mitochondrial oxidative phosphorylation
  • 5C53.2Z – Disorders of mitochondrial oxidative phosphorylation, unspecified

Foundation entity

Leigh syndrome – http://id.who.int/icd/entity/672871576

Part of: 5C53.2: Disorders of mitochondrial oxidative phosphorylation › 5C53: Inborn errors of energy metabolism › 05: Endocrine, nutritional or metabolic diseases