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Leigh Syndrome: Causes, Symptoms and Treatment

Leigh syndrome is a rare, severe neurological disorder that typically begins in infancy and is caused by mutations in mitochondrial or nuclear genes affecting energy production.

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Things worth knowing about "Leigh Syndrome"

Leigh syndrome is a rare, severe neurological disorder that typically begins in infancy and is caused by mutations in mitochondrial or nuclear genes affecting energy production.

What is Leigh Syndrome?

Leigh syndrome (also known as subacute necrotizing encephalomyelopathy) is a rare, serious, and progressive disorder of the central nervous system. It belongs to the group of mitochondrial diseases and most commonly affects infants and young children, although rare cases in older children and adults have been reported. The condition was first described in 1951 by British neuropathologist Archibald Denis Leigh.

Causes

Leigh syndrome is caused by mutations in genes responsible for mitochondrial function – the mitochondria being the so-called powerhouses of the cell. These mutations affect either the mitochondrial DNA (mtDNA) or the nuclear DNA, which encodes proteins essential for mitochondrial function.

Most commonly, defects involve Complex I, II, IV, or V of the mitochondrial respiratory chain.
A well-known subtype involves SURF1 gene mutations, associated with Complex IV (cytochrome c oxidase) deficiency.
Mutations in the NADH dehydrogenase gene and pyruvate dehydrogenase complex are also documented.
Inheritance patterns include maternal (mitochondrial), autosomal recessive, and X-linked transmission.

Symptoms

Symptoms typically appear within the first year of life and may rapidly worsen following illness or metabolic stress. Common symptoms include:

Developmental regression: loss of previously acquired skills such as sitting or speaking
Muscle weakness and hypotonia: reduced muscle tone
Breathing difficulties: irregular or weak respiratory patterns
Eye movement abnormalities: nystagmus (involuntary eye movements), ophthalmoplegia
Seizures
Swallowing difficulties and feeding problems
Lactic acidosis: elevated lactate levels in the blood due to impaired energy metabolism
General lethargy and irritability

Diagnosis

Diagnosis of Leigh syndrome relies on a combination of clinical and laboratory findings:

Brain MRI: Characteristic bilateral, symmetrical signal changes in the brainstem, basal ganglia, and thalamus are typically observed.
Blood and cerebrospinal fluid (CSF) analysis: Elevated lactate levels indicating lactic acidosis.
Genetic testing: Molecular genetic analysis to identify the underlying mutation.
Enzyme activity assays: Measurement of mitochondrial respiratory chain enzyme activity in muscle tissue.
Muscle biopsy: Tissue sample for histological and biochemical analysis.

Treatment

Currently, there is no curative treatment for Leigh syndrome. Management focuses on symptom relief and improving quality of life:

Thiamine (Vitamin B1): High-dose therapy may be beneficial in thiamine-responsive forms of the disease.
Riboflavin (Vitamin B2): May be effective in cases involving Complex I deficiency.
Coenzyme Q10 and idebenone: Used to support mitochondrial function.
Bicarbonate supplementation: To correct lactic acidosis.
Ketogenic diet: Applied in selected cases to provide an alternative energy source.
Physical, occupational, and speech therapy: To support motor and language development.
Intensive care interventions: Required during acute metabolic crises, particularly respiratory failure.

Prognosis

The prognosis of Leigh syndrome is unfortunately poor in most cases. Many affected children do not survive beyond early childhood. The clinical course depends strongly on the underlying genetic defect. In rare cases, particularly with milder mutations, patients may survive into adulthood. Active research into gene therapy and novel pharmacological approaches is ongoing.

References

Rahman S. - Leigh Syndrome. In: GeneReviews. National Center for Biotechnology Information (NCBI), 2021. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1173/
Finsterer J. - Leigh and Leigh-Like Syndrome in Children and Adults. Pediatric Neurology, 2008; 39(4): 223-235.
Orpha.net - Leigh Syndrome (ORPHA:506). Orphanet, 2023. Available at: https://www.orpha.net/

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