Alpers Syndrome!!
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Alpers Syndrome!!

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Alpers Syndrome!! Alpers Syndrome!! Presentation Transcript

  • Alpers Syndrome!! By: Victoria Garza Created: October 5,2008
    • Fatal mitochondrial disease. This is a disease of the brain and liver.
    What is Alpers Syndrome?
    • Most of the time their will be three main symptoms:
    • - seizures
    • - loss of developmental milestones
    • -liver disease
    • These are the main ones you would see most often with this disease.
    • *Note : There are more then the three listed symptoms above.
    Symptoms of This Fatal Disease View slide
    • Improper Shunting of blood
    • - Normally, the ammonia produced by protein breakdown in the bowel is metabolized to urea in the liver. When portal blood shunts past the liver, ammonia directly enters the systemic circulation and is carried to the brain.
    • - Such shunting may result from the collateral venous circulation that develops in portal hypertension or from surgically created portal-systemic shunts. Cirrhosis further compounds this problem because impaired hepatocellular function prevents conversion of ammonia that reaches the liver.
    What Causes this? View slide
    • Factors that predispose to rising ammonia levels include excessive protein intake, sepsis, excessive accumulation of nitrogenous body wastes, and bacterial action on protein and urea to form ammonia.
    • - Certain other factors heighten the brain’s sensitivity to ammonia intoxication, including fluid and electrolyte imbalances (especially metabolic alkalosis), hypoxia, azotemia, impaired glucose metabolism, infection, and administration of sedatives, narcotics, and general anesthetics.
    Causes (cont.)
  • Who are the victims? What medication is there for the disease?
    • Victims
    • - The victims are usually newborns, infants, and little children.
    • Medication
    • - Unfortunately, each case is different. The doctors must be able to figure out first that it is a mitochondrial disease. Second, usually they will have to find a medication they think will work best for that particular case.
  • What is the prognosis? Is it going to get better in the future?
    • - The prognosis for this rare disease is poor. Usually people who are diagnosed with it die within the fist decade of their life. This is usually caused by liver failure. Cardio respiratory failure is also a cause of death.
    • Future:
    • -Sadly, there is no change in the future, from what doctors can see, for this terrible disease.
    • There was a newborn girl named Hailey. When she was about 5 months old she first started getting the symptoms of a disease or illness. None of the doctors knew what she had exactly. All they knew was that it was very, very rare. Weeks go by and the little girl was back to normal. At 14 months she began to act unlike herself again. So her mom and dad went to the ER. once more. They stayed over night and the next day she was back to normal, playing with her toys and eating normal too. However, she had to keep going back the ER. a lot within the next few months because she kept having seizures and shook really bad.
    HAILEY’S WISH!
    • A month or so later Hailey’s parents were finally told what their precious little girl had, Alpers Syndrome. Her mom asked about how long they had left with their little bundle of joy. The doctor answered “It’s hard to tell but I would say about 3 months ma’am.” Hailey’s mom and dad had no choice but to plan to take Hailey off of life support. Just moments after they took her off of that life support she slipped away peacefully. This IS a TRUE story.
    • * Note: for more information about Hailey’s wish go to www.haileyswish.org and click read more...
    HAILEY’S WISH (cont.)
  • This is the precious Hailey that pasted away 4years ago because of her disease.
    • This is a picture of an 18month year old boy with Alpers Syndrome Disease.