5C53.24 Leigh syndrome
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
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.
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synonyms
- Leigh syndrome
- Leigh disease
- Infantile subacute necrotizing encephalopathy
- subacute necrotising encephalomyelopathy
- Subacute necrotising encephalopathy
- 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
- French-Canadian cytochrome C oxidase deficiency
- Leigh syndrome, Saguenay-Lac-St. Jean type
- Leigh syndrome, French-Canadian type
- COX deficiency, French-Canadian 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
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