Pearson syndrome

Pearson syndrome is a rare condition that affects many parts of a person’s body, particularly the bone marrow and pancreas. It is not inherited, but is caused by a large deletion of a section of mitochondrial DNA, which makes it difficult for cells to produce energy. Typically, babies with Pearson syndrome start to experience symptoms during infancy. Symptoms such as tiredness, infections and bruising are common, and caused by problems with the bone marrow leading to low red and white blood cell counts. People with Pearson syndrome may also have pancreatic insufficiency and experience diarrhea, stomach pain and difficulty gaining weight. Additional symptoms of Pearson syndrome may also include problems with the liver, kidneys, heart, eyes, ears or brain. While about half of children with Pearson syndrome do not survive beyond infancy or early childhood, others survive to early teenage years, though many may eventually have signs and symptoms of Kearns-Sayre syndrome, which affects the brain, spinal cord and nerves. Treatments such as blood transfusions and pancreatic enzyme replacement therapy can help to reduce the severity of symptoms. Currently, there is no targeted treatment approved for Pearson syndrome.

The latest on our research

We are jumpstarting our Pearson syndrome program to accelerate research on the condition and to ultimately improve treatment options. We welcome all parents and caregivers interested in participating and spreading the word to the Pearson syndrome community.