What is Zellweger syndrome?

Zellweger syndrome is a devastating genetically inherited disease belonging to a group of diseases called leukodystrophy that affects the metabolization of some substances present in the body and white matter or special tissue in the brain. These diseases differ in severity. Diseases such as Refsum disease can be quite survived during treatment. The Zellwegera syndrome is not, and there is currently no treatment that would offer much more than survival until the first year of life, if so. It is not possible to overestimate how extreme this disease is and the price that the infant and the family must pay for. Both parents must bear a recessive gene for diseases. For those people who have this situation in their family, it is recommended to obtain genetic counseling to make sure that the partner has no condition. If both partners have a recessive gene for this disease, they spoke with genetic alarm advisor about the risk of this condition, because there is a 25% chance that parents will have a child with Zellweger syndrome with every pregnancy.

The symptoms of Zellweger syndrome can turn into expression, but usually include a larger head, including the high face with a flatter face. Because the brain may be affected from the beginning, there may be seizures, serious developmental delays and problems with vision or hearing. The liver is usually considerably enlarged on ultrasound, and this can cause the child to look the yard and lead to infections. Other symptoms may include very bad muscle tone (floppiness), eye defects and kidney function problems.

Zellweger syndrome does not have a drug, but there are medical interventions that could slightly prolong their lives, and this could be necessary to maintain it. Due to development delay and problems, infants may not be able to eat through breast or feeding bottles. Instead, they could require tube feeding.

Doctors would also treat any conditions as they occur, such as infections. Unfortunately,Although more known about the condition, it is still not curable. Parents with a child's doctor may have to decide on the suitability of continuing treatment. They are heartbreaking and there is no right choice.

There is still hope that one day a medicine will be found for this condition. Since cells are damaged due to dysfunction of several genes, perhaps stem cell research can prepare the path to drug or better treatment.