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Case study #3


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Case study #3

  1. 1. Patient History •2-day old male •Low birth-weight (4pds. 5 ounces) •Difficulty suckling/swallowing •Seizures •Gastrointestinal bleeding
  2. 2. Patient’s Symptoms Enlarged liver Low muscle tone/inability to move Glaucoma Facial deformities Impaired hearing Jaundiced skin
  3. 3. Laboratory Results High Levels of Hydrogen Peroxide in Cells. High Levels of Fats and Amino Acids in cells.
  4. 4. Function of Peroxisomes Breakdown of fatty acid molecules Production of bile acids and proteins Lipid biosynthesis
  5. 5. Location of Peroxisomes Can be found in the Cytoplasm of the Cell Because it is known for the breakdown of fatty acids and hydrogen peroxide, there is an abundance of peroxisomes in cells in the liver.
  6. 6. Enlarged Liver The liver becomes abormally large Build-up of peroxisomes Excess amount of peroxisomes
  7. 7. Low Muscle Tone & Inability to Move Low muscle tone is called Hypotonia People with Down Syndrome usually have Hypotonia throughout their whole body Down syndrome critical region 2 protein inhibits the transcriptional activity of peroxisome proliferator- activated receptor β in HEK293 cells
  8. 8. Glaucoma Glaucoma is a disease in which the optic nerve is damaged, which leads to permanent blindness It is a mutation-induced exposure of a cryptic signaling site that causes mislocalization of mutant protein to peroxisomes and the first disease-gene-based animal model of human POAG
  9. 9. Jaundiced Skin Jaundiced skin is when your skin and eye whites are tinted slightly yellow due to abnormally high levels of bilirubin (bile pigment) Caused by abnormalities in the liver cells because of the lack of peroxisomes
  10. 10. Exact Diagnosis The patient has Zellweger Syndrome This syndrome is one out of the four disorders caused by malfunctioning peroxisomes. We chose this because the symptoms match very closely to our patients. Also, the symptoms were found right at birth, making this the right disorder to be diagnosed.
  11. 11. Treatment Currently there is no treatment for Zellweger syndrome because most abnormalities occur during fetal development. Babies diagnosed with this syndrome usually don’t survive after six months due to respiratory distress, gastrointestinal bleeding or liver failure.