Zellweger syndrome is a devastating genetically inherited disease belonging to a group of diseases called leukodystrophies, which affect the metabolization of some substances present in the body and the white matter or special tissue in the brain. These diseases vary in severity. Illnesses like Refsum disease may be quite survivable with treatment. Zellweger syndrome is not, and at present there is 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 price the infant and family must pay for it.
Cause of Zellweger syndrome is through inheritance on an autosomal recessive pattern. Both parents must carry a recessive gene for the illness. Those people who have this condition in their family are advised to get genetic counseling to make certain a partner does not have the condition. Should both partners have the recessive gene for this illness, speaking to a genetic counselor about risk of this condition occurring is advised, since there is a 25% chance that parents will have a child with Zellweger syndrome with each pregnancy.
Symptoms of Zellweger syndrome may be varied in expression but usually include a larger head including a high forehead with a flatter face. Since the brain may be affected from the onset, there may be seizures, severe developmental delays, and difficulty with seeing or hearing. The liver is usually greatly enlarged on ultrasound, and this may cause a baby to look jaundiced, and lead to infections. Other symptoms could include very poor muscle tone (floppiness), defects of the eyes, and problems with kidney function.
Zellweger syndrome has no cure, but there are medical interventions that could slightly extend life, and that might be necessary to sustain it. Due to developmental delays and problems, infants with this condition may not be able to eat via breast or bottle-feeding. They might require tube feeding instead.
Doctors would also treat any conditions as they occur, like infections. Sadly, though more is known about the condition, it still isn’t curable. Parents with their child's physician may need to make decisions about the appropriateness of continuing treatment. These are heart-wrenching to make, and there is no right choice.
There continues to be hope that someday a cure will be found for this condition. Since the damage to cells occurs due to the dysfunction of several genes, perhaps research on stem cells may pave the way to a cure or better treatment.
