Zellweger syndrome is also calledcerebrohepatorenal symptom. It is a very serious congenital genetic disorderthat has adverse effects on the brain, liver and kidneys. This disorder is evenheritable, but does not happen often. Zellweger syndrome belongs to the groupof four diseases which are called peroxisome biogenesis disorders, and thesefour disorders are the part of a larger group of diseases which is known underthe name of leykodystrophies. Of all these diseases, Zellweger syndrome is themost serious. It is caused by mutation in one of the twelve different PEXgenes. Zellweger syndrome is characterized by reduction or lack ofperokisomes in the cells of the brain, liver and kidneys. The role ofperokisomes is to disintegrate and dissolve toxic substances in the cells ofthe liver, brain and kidneys. Because of this, high levels of iron and copperin the blood appear leading to various deformities that accompany thissyndrome.
The symptoms can appear alone orcan be combined. They vary from one person to another. Generally, they affectmany of the most important systems in the body, such as the eye, liver,kidneys, heart and muscles. The signs and symptoms of Zellweger syndromeusually appear in the newborn period and include poor muscle tone, which iscalled hypotonic, and which is expressed through an inability to move, and alsothrough the poor feeding because the baby cannot swallow or suck.
Symptoms that occur most oftenwhen it comes to the Zellweger syndrome are enlarged liver, cysts in the liveror characteristic deformities of the head, such as the appearance of higherforehead or deformed ear, up slanting eye or skin folds. Other facialdeformities may also occur, such as flat occipital, low-broad nasal bridge,high arched palate, and small chin. Furthermore, cataract or cloudycornea, glaucoma, abnormal retinal pigmentation, and optic disc pallor are someof the signs of Zellweger syndrome concerning the eye. Some neurologicalabnormalities such as mental or psychomotor retardation and seizures also occurin certain cases. Jaundice and bleeding are also some of the symptoms ofZellweger syndrome.
Unfortunately, there is no curefor this disease, and even some formal treatments are done in order to ease thesymptoms. Frequently, people with this syndrome die one year after theestablishment of the disease, and babies do not manage to beat the first 6months. They often die due to liver problems, gastrointestinal bleeding, orbecause of the heart fault and problems with breathing.