Leigh Syndrome, also known as juvenile subacute necrotizing encephalomyelopathy, is a rare inherited disorder that affects the central nervous system. A progressive disease, the condition causes the degeneration of the central nervous system including the brain, spinal cord and the optic nerve. Generally the symptoms show up between the age of 3 months and 2 years but some patients do not show any signs till they are much older. The first noticeable sign is loss of previously acquired motor skills, loss of head control, poor sucking ability can be the symptoms. There can be other signs too such as vomiting, loss of appetite, irritability and continuous crying. Delays in reaching developmental milestones may also be evident.
HOW IS LEIGH SYNDROME DIAGNOSED?
Diagnosis of the same would be done by a neurology expert do a series of physical examinations including blood tests, MRI, etc.
HOW IS LEIGH SYNDROME TREATED?
There are no standard treatment procedures available for Leigh Syndrome, only symptomatic relief is possible. Common treatment is administering thiamine or thiamine derivatives for temporary relief from symptoms. Dietary changes to include low carbohydrates and high fat are recommended for patients with Leigh Syndrome
DID YOU KNOW?
Genetic counselling is recommended for families with Leigh Syndrome