Zellweger syndrome is a severe genetic disease that affects the brain and body’s metabolization. It is inherited in an autosomal recessive pattern and has no cure. Symptoms include developmental delays, vision or hearing difficulties, and enlarged liver. Medical interventions can slightly lengthen life, but decisions about treatment are difficult. Stem cell research may offer hope for a cure.
Zellweger syndrome is a devastating genetically inherited disease that belongs to a group of diseases called leukodystrophies, which affect the metabolization of certain substances in the body and the white matter or special tissue in the brain. These diseases vary in severity. Diseases such as Refsum’s disease can be quite survivable with treatment. Zellweger syndrome is not, and there is currently no treatment that offers much more than survival to about the first year of life, if that. It cannot be overstated how extremely serious this disease is and the toll the child and family must pay for it.
The cause of Zellweger syndrome is through inheritance in an autosomal recessive pattern. Both parents must carry a recessive gene for the disease. People who have this condition in their family are advised to get genetic counseling to make sure a partner does not have the condition. If both partners have the recessive gene for this condition, it is advisable to speak to a genetic counselor about the risk of this condition occurring, as there is a 25% chance that parents will have a child with Zellweger syndrome at any given time. pregnancy.
Symptoms of Zellweger syndrome can vary in expression but usually include a larger head, including a high forehead with a flatter face. Because the brain may be affected early on, seizures, severe developmental delays, and vision or hearing difficulties can occur. The liver is usually significantly enlarged on ultrasound, and this can make a baby appear jaundiced and lead to infection. Other symptoms could include very poor muscle tone (flaccidity), eye defects and problems with kidney function.
Zellweger syndrome has no cure, but there are medical interventions that may slightly lengthen life that may be needed to sustain it. Due to developmental delays and problems, babies with the condition may not be able to eat via breast or bottle feeding. Instead, they may require tube feeding.
Doctors would also treat any conditions as they occur, such as infections. Sadly, although more is known about the condition, it is still not curable. Parents with their child’s doctor may need to make decisions about whether treatment should continue. These are excruciating to make and there is no right choice.
There continues to be hope that a cure for this condition will someday be found. Since cell damage occurs due to dysfunction of several genes, perhaps stem cell research could pave the way for a better cure or treatment.
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