Zellweger's syndrome is a rare genetic disease that causes changes in the skeleton and face, as well as serious damage to important organs such as the heart, liver and kidneys. In addition, it is also common the appearance of lack of strength, difficulty to listen and convulsions.
Babies with this syndrome usually show signs and symptoms as early as the first few hours or days after birth, so your pediatrician can ask to have blood and urine tests done to confirm the diagnosis.
Although there is no cure for this syndrome, the treatment helps to correct some of the changes, increases the chances of survival and allows improvements in the quality of life. However, depending on the type of organ changes, some babies have a life expectancy of less than 6 months.
Characteristics of the syndrome
The main physical features of Zellweger syndrome include:
- Flat face;
- Narrow, flat nose;
- Big forehead;
- Palate on warhead;
- Eyes tilted up;
- Head too big or too small;
- Skull bones separated;
- Larger than normal language;
- Skin folds around the neck.
In addition, there may be several changes in important organs such as liver, kidneys, brain and heart, which, depending on the severity of the malformations, can be life-threatening.
It is also common that in the first days of life, the baby presents lack of strength in the muscles, difficulty to suckle, convulsions and difficulty to listen and to see.
What causes the syndrome
The syndrome is caused by an autosomal recessive genetic disorder in PEX genes, which means that if there are cases of the disease in the family of both parents, even if the parents do not have the disease, there are approximately 25% chances of having a child with the Zellweger syndrome.
How is the treatment done?
There is no specific form of treatment for Zellweger syndrome, and in each case the pediatrician needs to evaluate the changes caused by the disease in the baby and recommend the best treatment. Some options include:
- Difficulty in breastfeeding : placing a small tube directly into the stomach to allow food to enter;
- Changes in the heart, kidneys, or liver : Your doctor may choose to have surgery to try to repair the malformation or use remedies that relieve the symptoms;
However, in most cases, changes in important organs such as liver, heart and brain can not be corrected after birth, and so many children end up suffering from life-threatening liver failure, bleeding or breathing problems in the first months.
Usually, the treatment teams of this type of syndromes are composed of several health professionals besides the pediatrician, such as caardiologists, neurosurgeons, ophthalmologists and orthopedists, for example.
