Zellweger syndrome is a rare genetic disease that causes alterations in the skeleton and face, as well as serious damage to important organs such as the heart, liver and kidneys, as well as lack of strength, hearing difficulties and seizures.
Babies with this syndrome often show signs and symptoms within the first hours or days after birth, so a pediatrician may order blood and urine tests to confirm the diagnosis.
- Although there is no cure for this syndrome.
- Treatment helps correct some of the changes.
- Increases the chances of survival and improves quality of life; However.
- Depending on the type of organic modification.
- Some babies have an average life expectancy of less than 6 months.
The main physical characteristics of Zellweger syndrome include
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 for the baby to have a lack of muscle strength, difficulty breastfeeding, seizures and difficulty hearing and seeing in the first few days of life.
The syndrome is caused by an autosomal recessive genetic change in the PEX genes, which means that if there are cases of disease in the families of both parents, even if the parents do not have the disease, there is about a 25% chance of having a disease.child with Zellweger syndrome.
There is no specific form of treatment for Zellweger syndrome, and in each case, the pediatrician should evaluate changes caused by the disease in the baby and recommend the best treatment.Some options include:
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.
Treatment teams for this type of syndrome are usually made up of several health professionals in addition to pediatricians, such as cardiologists, neurosurgeans, ophthalmologists, and orthopedists, for example.