Leigh Syndrome is a rare genetic disease that causes progressive destruction of the central nervous system, thus affecting the brain, spinal cord or optic nerve, for example.
Generally, the first symptoms appear between 3 months and 2 years of age and include loss of motor skills, vomiting and marked loss of appetite. However, in rarer cases, this syndrome can only appear in adults, around the age of 30, progressing more slowly.
There is no cure for Leigh syndrome, but its symptoms can be controlled with medication or physical therapy to improve the child’s quality of life.
What are the main symptoms
The first symptoms of this disease generally appear before the age of 2 with loss of abilities that had already been acquired. Therefore, depending on the child’s age, the first signs of the syndrome may include loss of abilities such as holding the head, breastfeeding, walking, speaking, running or eating.
Additionally, other very common symptoms include:
- Loss of appetite;
- Frequent vomiting;
- Excessive irritability;
- Seizures;
- Developmental delay;
- Difficulty gaining weight;
- Decreased strength in arms or legs;
- Tremors and muscle spasms;
As the disease progresses, it is still common for lactic acid to increase in the blood, which when in large quantities can affect the functioning of organs such as the heart, lungs or kidneys, causing difficulty breathing or an enlarged heart, for example. example.
When symptoms appear in adulthood, the first symptoms are almost always related to vision, including the appearance of a whitish layer that blurs vision, progressive loss of vision or color blindness (loss of the ability to distinguish between green and red ). In adults, the disease progresses more slowly and, therefore, muscle spasms, difficulty coordinating movements and loss of strength only begin to appear after the age of 50.
How the treatment is carried out
There is no specific form of treatment for Leigh Syndrome, and the pediatrician must adapt the treatment to each child and their symptoms. Therefore, a team of several professionals may be needed to treat each symptom, including a cardiologist, a neurologist, a physical therapist, and other specialists.
However, a widely used and common treatment for almost all children is supplementation with vitamin B1, as this vitamin helps protect the membranes of neurons in the central nervous system, delaying the progression of the disease and improving some symptoms.
Thus, the prognosis of the disease is very variable, depending on the problems caused by the disease in each child, however, life expectancy continues to be low because the most serious complications that put life at risk usually appear close to adolescence.
What causes the syndrome
Leigh Syndrome is caused by a genetic change 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. Therefore, it is recommended that people with cases of this disease in their family undergo genetic counseling before becoming pregnant to find out the chances of having a child with this problem.
