Zellweger 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, lack of strength, difficulty hearing and seizures are also common.
Babies with this syndrome usually show signs and symptoms in the first hours or days after birth, so the pediatrician may 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 an average life expectancy of less than 6 months.
Syndrome features
The main physical characteristics of Zellweger syndrome include:
- Flattened face; Nose wide and flattened; Large forehead; Palate on warhead; Eyes tilted upwards; Head too large or too small; Skull bones separated; Tongue larger than normal; Skin folds in the neck.
In addition, several changes can occur in important organs such as the 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 has a lack of strength in the muscles, difficulty breastfeeding, convulsions and difficulty hearing and seeing.
What causes the syndrome
The syndrome is caused by an autosomal recessive genetic change in the PEX genes, which means that if there are cases of the disease in both parents' families, even if the parents do not have the disease, there is an approximately 25% chance of having a child with Zellweger's syndrome.
How the treatment is done
There is no specific form of treatment for Zellweger syndrome, and in each case, the pediatrician needs to assess the changes caused by the disease in the baby and recommend the best treatment. Some options include:
- Difficulty breastfeeding: placing a small tube directly into the stomach to allow food to enter; Changes in the heart, kidneys or liver: the doctor may choose to have surgery to try to repair the malformation or use drugs that relieve symptoms;
However, in most cases, changes in important organs, such as the liver, heart and brain, cannot be corrected after birth, so many children end up with liver failure, bleeding or life-threatening breathing problems. in the first few months.
Usually, treatment teams for this type of syndromes are composed of several health professionals in addition to pediatricians, such as cardiologists, neurosurgeons, ophthalmologists and orthopedists, for example.
