Leigh syndrome
Leigh Syndrome
Leigh syndrome (pronounced: lee) is a severe neurological disorder that typically becomes apparent 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.
Etymology
The syndrome is named after the British psychiatrist and neurologist, Denis Archibald Leigh, who first described the condition in 1951.
Symptoms
Symptoms of Leigh syndrome usually begin between ages three months and two years. Early signs often include poor sucking ability, loss of head control and motor skills, loss of appetite, vomiting, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function.
Causes
Leigh syndrome can be caused by mutations in one of over 75 different genes. Most of these genes are involved in energy production in cells. In most cases, the genetic changes that cause Leigh syndrome are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.
Diagnosis
Diagnosis of Leigh syndrome is based on a clinical examination, detailed patient history, and a variety of specialized tests. These tests may include magnetic resonance imaging (MRI), blood and urine tests, skin biopsy, and genetic testing.
Treatment
There is currently no cure for Leigh syndrome. Treatment is symptomatic and supportive. This may include respiratory support, therapies to prevent contractures, and medications to control symptoms such as seizures and lactic acidosis.
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.
External links
- Medical encyclopedia article on Leigh syndrome
- Wikipedia's article - Leigh syndrome
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