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Pearson Syndrome

Eric Curran Acevedo

What is Pearson Syndrome ?

What is it ?

Description

Description

-Pearson Syndrome affects the mitochondira

-The mitochondria breaks down food into ATP using oxygen

-Pearson Syndrome is a rare condition in infants

-it most commonly affects a patient's bown marrow and/or pancreas

Genetics

-Pearson Syndrome is caused by a novomutation in mitochondrial DNA

-Hematopoietic cells are affected in development when the sperm or egg are being made

-Most reported cases are not passed from parent(s) to child

Diagnosis

Diagnosis

Symptoms

-Symptoms of Pearson syndrome include; failure to thrive, frequent diarrhea, stomach pain, diabetes, and trouble absorbing nutrience from food

-It affects hemotomic blood cells in bone marrow, which can result in; anemia, neutrophenia, or thromborytopenia, causing the patient to feel lethargic, weak, and frequently sick

How is it diagnosed ?

-Many tests are needed for a patient to be diagnosed

-These include; bone marrow biopsy, speacial urine tests, and stool tests

-Diagnosis is confirmed with genetic testing

How is it diagnosised ?

Impacts

-About 50% of children with Pearson Syndrome die in early childhood due to severe lactic acidosis or liver failure

-Many who do survive develop Kearns-Sayre Syndrome

Impacts

Treatment

-There is currently no cure for pearson syndrome

-Frequent blood transfussions are often nessecary

-Stem cell transplants can correct hematologic aspects of the disorder

-Many different treatments are needed to treat symptoms as they appear becasue Pearson Syndrome can affect many parts of the body

Treatment

Summary

-Pearson Syndome is a genetic mutation that has not been proven to be inheireted

-It is often fatel and 50% children diagnosed die before the age of two

-There is no cure but treatments are avililable to prolong life

Summary

Citations

“Pearson Syndrome.” NORD (National Organization for Rare Disorders), https://rarediseases.org/gard-rare-disease/pearson-syndrome/.

“Pearson Syndrome.” Pearson Syndrome | Boston Children's Hospital, https://www.childrenshospital.org/conditions/pearson-syndrome.

“Pearson Syndrome: Medlineplus Genetics.” MedlinePlus, U.S. National Library of Medicine, https://medlineplus.gov/genetics/condition/pearson-syndrome/.

Citations

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