Pearson Syndrome | Diagnosis & Treatment

How is Pearson syndrome diagnosed?

Diagnosis of Pearson syndrome can be done via a bone marrow biopsy, urine test, or stool sample testing. Genetic testing can be also be performed to confirm the diagnosis.

In most cases, many children with Pearson syndrome die during infancy, though some children may survive into later childhood, but may go on to develop other disorders like Kearns-Sayre syndrome. Treatment options may include blood transfusions, pancreatic enzyme replacement therapy, and the treatment of infections.

Because it is so rare, many tests may be needed to diagnose Pearson syndrome. These include a bone marrow biopsy to uncover signs of sideroblastic anemia, or a stool sample to measure the amount of fat present in your child’s bowel movements. Your care team may also test the urine to check for certain organic acids which would be a sign of metabolic acidosis.

Genetic testing for changes or mutations in mitochondrial DNA would confirm the diagnosis for Pearson syndrome. Although it is usually caused by deletions of mitochondrial DNA, duplication of mitochondrial DNA can also cause symptoms of Pearson syndrome. Whether the condition is caused by a deletion or duplication of DNA may affect how the disease progresses.

What are the treatment options for Pearson syndrome?

Unfortunately, there is no cure for Pearson syndrome, and the goal of existing treatments is to decrease symptoms to improve quality of life. Children affected by Pearson syndrome may require frequent blood transfusions to help supply the body with healthy red blood cells.

It is vital that children who are affected by Pearson syndrome avoid other people who are sick with infections, since they cannot fight off illnesses as well as other children can. Additional treatments will depend on the specific symptoms; it may be necessary to see specialists for the liver, kidneys, heart, and pancreas. Physical or occupational therapy may be helpful, especially in children who live past infancy.

Stem cell transplant

Because Pearson syndrome is a multisystem condition, a stem cell transplant can only correct the hematologic aspects of the disorder and cannot correct problems that occur in other parts of the body.

It is, however, important to ask your doctors about any new or promising treatments for Pearson syndrome.