Case study #3
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Transcript of Case study #3
Case Study #3
Erica Choi, Kimberly Balao, Chrissy
Datuin, & Ambika Sharma
Patient History•2-day old male•Low birth-weight (4pds. 5 ounces)•Difficulty suckling/swallowing•Seizures•Gastrointestinal bleeding
Patient’s SymptomsEnlarged liver
Low muscle tone/inability to move
Glaucoma
Facial deformities
Impaired hearing
Jaundiced skin
Laboratory ResultsHigh Levels of Hydrogen Peroxide in Cells.High Levels of Fats and Amino Acids in cells.
Malfunctioning Organelle? :
PEROXISOMES
Function of PeroxisomesBreakdown of fatty acid moleculesProduction of bile acids and proteinsLipid biosynthesis
Location of PeroxisomesCan 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.
Enlarged LiverThe liver becomes abormally large
Build-up of peroxisomes
Excess amount of peroxisomes
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
GlaucomaGlaucoma 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
Jaundiced SkinJaundiced 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
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.
TreatmentCurrently 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.