Leigh's syndrome is a rare genetic disease that causes the 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 more rare cases, this syndrome can also appear only in adults, around 30 years, evolving more slowly.
Leigh's syndrome has no cure, 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 usually appear before the age of 2 with a 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, suckling, walking, talking, running or eating.
In addition, other very common symptoms include:
- Loss of appetite; Frequent vomiting; Excessive irritability; Seizures; Delayed development; Difficulty in gaining weight; Decreased strength in the arms or legs; Muscle tremors and spasms;
With the progression of the disease, it is still common to increase and lactic acid in the blood, which when it is in large quantities, can affect the functioning of organs such as the heart, lungs or kidneys, causing difficulty in breathing or enlargement of the 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 the vision, progressive loss of vision or Color blindness (loss of ability to distinguish between green and red). In adults, the disease progresses more slowly and, thus, muscle spasms, difficulty in coordinating movements and loss of strength only begin to appear after the age of 50.
How the treatment is done
There is no specific form of treatment for Leigh's syndrome, and the pediatrician must adapt the treatment to each child and their symptoms. Thus, a team of several professionals may be required to treat each symptom, including a cardiologist, a neurologist, a physical therapist and other specialists.
However, a treatment widely used and common to almost all children is supplementation with vitamin B1, as this vitamin helps to protect the membranes of neurons in the central nervous system, delaying the evolution of the disease and improving some symptoms.
Thus, the prognosis of the disease is highly variable, depending on the problems caused by the disease in each child, however, life expectancy remains low because the most serious complications that put life at risk usually appear around adolescence.
What causes the syndrome
Leigh's syndrome is caused by a genetic disorder 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 the family do genetic counseling before becoming pregnant to find out the chances of having a child with this problem.
