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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?
The diagnosis of Leigh syndrome may be confirmed by a thorough clinical evaluation and a variety of specialized tests, particularly advanced imaging techniques. Magnetic resonance imaging (MRI) or computed tomography (CT) scans of the brain may reveal abnormal areas in certain parts of the brain. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues. During CT scanning, a computer and x-rays are used to create a film showing cross-sectional images of certain tissue structures.
HOW IS LEIGH SYNDROME TREATED?
There are no proven therapies for Leigh Syndrome of any type. Treatment recommendations are based primarily on open label studies, case reports, and personal observations. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, cardiologists, neurologists, specialists who assess and treat hearing problems (audiologists), eye specialists, and other health care professionals may need to systematically and comprehensively plan an effective child’s treatment. The most common treatment for Leigh's disease is thiamine or Vitamin B1. Oral sodium bicarbonate or sodium citrate may also be prescribed to manage lactic acidosis. In individuals who have the X-linked form of Leigh’s disease, a high-fat, low-carbohydrate diet may be recommended
DID YOU KNOW?
Leigh Syndrome is, as a matter of fact, suggested by clinical findings and confirmed with laboratory and genetic testing.