Leigh

Leigh syndrome (also known as Subacute necrotizing encephalomyelopathy) is a severe neurological disorder that typically arises in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure. A small number of individuals do not develop symptoms until adulthood or have symptoms that worsen more slowly.

Signs and Symptoms

The first signs of Leigh syndrome seen in infancy are usually vomiting, diarrhea, and difficulty swallowing (dysphagia) that leads to eating problems. These symptoms are often followed by irritability, loss of head control, and loss of acquired motor skills. Over time, affected individuals may develop movement problems, muscle weakness, and peripheral neuropathy. Seizures, heart disease, eye movement abnormalities, and respiratory problems are also common.

Causes

Leigh syndrome can be caused by mutations in one of over 75 genes. These genes are involved in energy production in cells, specifically in the mitochondria. Mutations in these genes reduce the efficiency of energy production and lead to cell death, particularly in the nervous system and muscles, leading to the symptoms of Leigh syndrome.

Diagnosis

Diagnosis of Leigh syndrome is based on clinical symptoms, MRI findings, and genetic testing. The characteristic findings on MRI are bilateral, symmetrical hyperintense lesions in the basal ganglia and/or the brainstem.

Treatment

There is no cure for Leigh syndrome. Treatment is supportive and based on the symptoms present in each individual. This may include respiratory support, therapies for movement disorders, and other supportive treatments.

Prognosis

The prognosis for individuals with Leigh syndrome is generally poor. Most individuals with Leigh syndrome die within a few years, usually due to respiratory failure.

See also

• Mitochondrial disease
• Neurological disorder
• Genetic disorder

Leigh Resources
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