Successfully reported this slideshow.
We use your LinkedIn profile and activity data to personalize ads and to show you more relevant ads. You can change your ad preferences anytime.

Zellweger syndrome

5,244 views

Published on

This is my presentation on Zellweger Syndrome for Biology Honors period 1.

Published in: Education

Zellweger syndrome

  1. 1. 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 affecthow the body metabolizes particular substances in the blood and organ tissues. It is the most severe of the PBD’s.
  2. 2. Diagnosis Prenatal diagnosis is achieved via CVS (chorionic villus sampling), an invasive procedure done in early pregnancy that removes a tiny piece of the placenta, andamniocentesis. 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.
  3. 3. 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
  4. 4. Physical Symptoms • Defects in the face, development, or eyes • Up slanting eyes • High forehead• Skin folds along the person’s nasal borders of thespace between the upper and lower eyelids of their eyes • Loss of muscle tone/extreme weakness • Seizure activity • Jaundice
  5. 5. 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.
  6. 6. TreatmentsThere is no cure for Zellweger Syndrome, or a commontreatment. 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.
  7. 7. PrognosisThere is no real prognosis for Zellweger Syndrome. Mostinfants do not survive the first 6 months of life, and usually fall into respiratory distress, gastrointestinal bleeding, or liver failure.
  8. 8. 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>.

×