Leigh syndrome diagnosis is made based on the leigh syndrome symptoms that the infant or child has. Tests may show a deficiency of an enzyme called pyruvate dehydrogenase or the presence of lactic acidosis.
Patients with Leigh syndrome may have symmetrical patches of damage in the brain that can be found by brain scan. In some individuals, genetic test may be able to confirm the presence of a genetic mutation.
Leigh Syndrome Treatment
Currently, there is no cure for Leigh syndrome and the available treatment is only partially effective. This includes thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may be prescribed to treat lactic acidosis.
The researchers are currently testing dichloroacetate to examine its effectiveness in treating lactic acidosis.
For people who have the X-linked Leigh’s disease, a low-carbohydrate and high-fat diet may be recommended.
Other leigh syndrome treatments such as physical, occupational, and speech therapy also can help a child who has leigh syndrome to reach his or her developmental potential.