Zellweger Syndrome

What Is It?

Zellweger Syndrome is related to Peroxisome Biogenesis Disorder (PBD), which is part of a larger group of diseases

called the leukodystrophies. These are inherited conditions that damage the white matter of the brain and also affect how the body metabolizes particular substances in the blood and

organ tissues. It is the most severe of the PBD’s.

DiagnosisPrenatal diagnosis is achieved via CVS (chorionic villus

sampling), an invasive procedure done in early pregnancy that removes a tiny piece of the placenta, and

amniocentesis. Determining the amount of peroxisomes via a liver biopsy is considered an essential part of diagnosis.

Blood tests that indicate high levels of various organic compounds in the blood can also confirm the diagnosis.

Causes

• Defects in any one of the 13 genes• Termed PEX genes (PEX genes are required for

the normal formation and function of peroxisomes)

• Dysfunctional lipid metabolism• Defects of the bile acids and plasmalogens• Lack in, or absence of, peroxisomes

Physical Symptoms• Defects in the face, development, or eyes

• Up slanting eyes• High forehead

• Skin folds along the person’s nasal borders of the space between the upper and lower eyelids of their

eyes• Loss of muscle tone/extreme weakness

• Seizure activity• Jaundice

Internal Symptoms• Enlarged liver

• Increased levels of copper and iron in the blood• Inability to move

• Intellectual disability• Gastrointestinal bleeding• Prenatal growth failure

The liver on the left is normal.The liver on the right is enlarged.

Treatments

There is no cure for Zellweger Syndrome, or a common treatment. The metabolic and neurological symptoms of

this disease are formed during the fetal development. Treatments are limited, and most are symptomatic and

supportive.

A is a normal brain. B is a brain with Zellweger Syndrome.

Prognosis

There is no real prognosis for Zellweger Syndrome. Most infants do not survive the first 6 months of life, and usually

fall into respiratory distress, gastrointestinal bleeding, or liver failure.

Bibliography• "NINDS Zellweger Syndrome Information Page." Zellweger Syndrome Information Page: National Institute of Neurological

Disorders and Stroke (NINDS). National Institute of Neurological Disorders and Stroke, 27 Sept. 2011. Web. 17 Oct. 2012.

<http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm>.• Weiss, Thomas C. "Zellweger Syndrome - Facts and

Information." Disabled World. Disabled World, 13 Mar. 2012. Web. 17 Oct. 2012.

<http://www.disabled-world.com/disability/types/zellweger-syndrome.php>.

• Honor Society of Nursing. "How Is Zellweger Syndrome Diagnosed?" Sharecare. Sharecare, n.d. Web. 22 Oct. 2012.

<http://www.sharecare.com/question/how-zellweger-syndrome-diagnosed>.