Whitney's+Page

Pearson Syndrome Whitney Hughes Honors Biology 1



Pearson syndrome is characterized as a rare multisystemic, mitochondrial cytopathy. It's an abnormal functioning of bone marrow, liver, kidneys, and pancreas marrow failure.**
 * Introduction:

Pearson syndrome is a defect in either a mitochondrial gene or a gene in the cell nucleus that affects the functioning of the mitochondria. It is inherited from only the mother. If it's a nuclear gene then it depends on the gene and it is not restricted to maternal inheritance.**
 * Inheritance:

Pearson syndrome has many symptons, some may be extremely severe. Features of this disorder are things like refactory sideroblastic anemia, pancytopenia, defective oxidative phosphorylation, exocrine pancreatic insufficiency, and variable hepatic, renal, and endocrine failure. There are no pathognomic physical characteristics observed, but things you may see are very low weight in paitens for their age, some are cachectic, patchy erythema, extreme paleness and photo sensitivity. Pearson syndrome does not discriminate on race or sex, however it is more common in infants and young children. The usual causes of death are bacterial sepsis due to nuetropenia, metabolic crisis, and hepatic failure. This disorder is very rare, but it would be very difficult and painful to go through.**
 * Clinical Description:

There is no specific therapy available for Pearson Syndrome, attentive care and awareness may prevent death or minimize morbidity. May often need tansfussions to manage anemia, pancreatic enzyme replacement may be needed due to exocrine pancreatic insuffincey. Supplementation with fat-soluble viatamins may also be needed. Evaluation of fever should take place. Granulocyte colony- simulating has been used to prevent or treat severe nuetropenia. Manage metabolic problems with hydration, correction of electolytes, and correction of acidosis. Stem cell transplation has only been known to be done for one person, therefore it is extremely rare.**
 * Treatment:

Usually you have to wait for symptoms to appear before you can diagnose someone with Pearson Syndrome. You have to wait for this child to be born before knowing or not. Further test may be done to diagnose the person with Pearson syndrome. MRI's of the brain may be performed to further investigate the disorder. Test may also be done with samples of bone marrow and tissue.**
 * Detection:

www.mda.org/disease/ images/mattie.jpg [] []
 * Sources:**
 * []**
 * []**

​ ​