Leigh Syndrome Diagnosis and Treatments

Leigh syndrome diagnosis is made based on the symptoms of Leigh syndrome that the baby or child has. Tests may indicate a deficiency of an enzyme called pyruvate dehydrogenase or the presence of lactic acidosis.

Patients with Leigh syndrome may have a symmetrical patches of damage in the brain that can be found by brain scans. In some individuals, genetic tests may be able to confirm the presence of genetic mutations.

Currently, there is no cure for Leigh's syndrome and available treatment is only partially effective. These include thiamine or Vitamin B1. Sodium bicarbonate or sodium citrate may be prescribed to treat oral lactic acidosis.

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