Catalog
Leigh syndrome
Link to WHO Definition
Leigh syndrome – http://id.who.int/icd/entity/672871576
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.
Parents
Children
- Leigh syndrome with nephrotic syndrome
- Dystonia due to Leigh syndrome
- Leigh syndrome with cardiomyopathy
- Maternally inherited Leigh syndrome
- Sporadic Leigh syndrome
- Leigh syndrome due to cytochrome C oxidase deficiency
- Saguenay-Lac-Saint-Jean cytochrome C oxidase deficiency
- Leigh syndrome with leukodystrophy