Leigh syndrome is a rare genetic disease that causes the progressive destruction of the central nervous system, affecting the brain, spinal cord or optic nerve, for example.
Generally, the first symptoms appear between 3 months and 2 years and include loss of motor skills, vomiting and marked loss of appetite, however, in rarer cases, this syndrome may also occur only in adults, around age 30, progressing more slowly. .
- Leigh syndrome is incurable.
- But your symptoms can be controlled with medication or physical therapy to improve a child’s quality of life.
The first symptoms of this disease usually appear before age 2 with a loss of skills already acquired, so depending on the child’s age, the first signs of the syndrome may include a loss of ability such as holding the head, sucking, walking, talking, running or eating.
In addition, other very common symptoms include
As the disease progresses, it remains common for lactic acid in the blood to increase, which, when in large numbers, can affect the functioning of organs such as the heart, lungs or kidneys, causing, for example, breathing difficulties or enlargement. heart example.
When symptoms appear in adulthood, early symptoms are almost always related to vision, including the appearance of a whitish layer that clouds vision, progressive vision loss, or color blindness (loss of ability to distinguish between green and red). the disease progresses more slowly and, as a result, muscle spasms, difficulty coordinating movements and loss of strength do not begin to appear until after age 50.
There is no specific form of treatment for Leigh syndrome and the pediatrician should adapt the treatment to each child and their symptoms. For example, a team of several professionals may be needed to treat each symptom, including a cardiologist, neurologist, physical therapist, and other specialists.
However, a widely used and common treatment for almost all children is vitamin B1 supplementation, as this vitamin helps protect the membranes of neurons in the central nervous system, slowing disease progression and improving certain symptoms.
Thus, the prognosis of the disease is very variable, depending on the problems caused by the disease in each child, however life expectancy remains low because the most serious life-threatening complications usually appear in adolescence.
Leigh syndrome is caused by a genetic disease that can be inherited from the father and mother, even if the parents do not have the disease but there are cases in the family, so it is recommended that people with cases of this disease in the family perform genetic counseling before becoming pregnant to know the chances of having a child with this problem.