Pearson Syndrome

What is Pearson syndrome?

Pearson syndrome is a very rare condition that affects various parts of the body, in particular the bone marrow and the pancreas. Pearson syndrome also affects the cells in the bone marrow that produce white blood cells, red blood cells and platelets, called hematopoietic stem cells.

Having too few red blood cells (anemia), white blood cells (neutropenia) or platelets (thrombocytopenia) can cause a child to feel weak and tired, frequently sick, easily bruise and take a longer time to stop bleeding when injured.

Pearson syndrome is caused by a mutation — or changing of structure — in the mitochondrial DNA, which can make it difficult for the cells in your child’s body to make energy. Most reported cases happen for the first time in a family; it is not passed down from either parent.

Pearson syndrome also affects the pancreas. This can cause a variety of symptoms, including frequent diarrhea and stomach pain, difficulty gaining weight, as well as diabetes. Some children with Pearson syndrome may also have functional problems with their liver, kidneys, heart, eyes, ears and brain.

Meet William.

His parents established a foundation to fuel research with Dr. Suneet Agarwal at the helm.

 

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How we care for Pearson Syndrome

The Bone Marrow Failure Program at Dana-Farber/Boston Children's Cancer and Blood Disorders Center provides comprehensive diagnostics, treatment, and preventive services for a wide range of blood disorders. Your child will receive care from some of the world’s most experienced hematologists with extensive expertise in caring for children with Pearson syndrome. 

Our areas of research for Pearson syndrome

Dana-Farber/Boston Children's is collaborating with specialists across multiple institutions to improve diagnostics and drive research and future treatments for Pearson syndrome.