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.