Leigh syndrome

Leigh Trichrom

Leigh syndrome, also known as Leigh disease, is a severe neurological disorder that typically arises in the first year of life. It is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within a few years, usually due to respiratory failure.

Presentation

Leigh syndrome presents with a variety of symptoms, which can include poor sucking ability, loss of head control and motor skills, loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disease progresses, symptoms may include generalized weakness, lack of muscle tone (hypotonia), and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function.

Genetics

Leigh syndrome can be caused by mutations in mitochondrial DNA or nuclear DNA. It is associated with defects in mitochondrial energy production, particularly in the process of oxidative phosphorylation. The condition can be inherited in an autosomal recessive, X-linked recessive, or mitochondrial inheritance pattern.

Diagnosis

Diagnosis of Leigh syndrome is based on clinical findings, neuroimaging studies such as MRI, and genetic testing. MRI typically shows symmetrical lesions in the basal ganglia, thalamus, brainstem, and spinal cord. Elevated lactate levels in blood and cerebrospinal fluid can also support the diagnosis.

Treatment

There is no cure for Leigh syndrome, and treatment is generally supportive and symptomatic. Management may include nutritional support, physical therapy, and medications to manage symptoms such as seizures and lactic acidosis. Some patients may benefit from specific dietary supplements like thiamine (vitamin B1) or coenzyme Q10, depending on the underlying genetic cause.

Prognosis

The prognosis for Leigh syndrome is generally poor, with most affected individuals not surviving beyond a few years after the onset of symptoms. The rate of progression and severity can vary depending on the specific genetic mutation and the organs involved.

Related Pages

• Mitochondrial disease
• Neurological disorder
• Genetic disorder
• Oxidative phosphorylation
• Lactic acidosis
• Basal ganglia
• Thalamus
• Brainstem
• Spinal cord

See Also

• List of genetic disorders
• List of neurological disorders

External Links

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