This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Pearson syndrome affects many parts of the body but especially the bone marrow and the pancreas. Pearson syndrome affects the cells in the bone marrow (hematopoietic stem cells) that produce red blood cells, white blood cells, and platelets. Having too few red blood cells (anemia), white blood cells (neutropenia), or platelets (thrombocytopenia) can cause a child to feel weak and tired, be sick more often, bruise more easily and take a longer time to stop bleeding when cut. Pearson syndrome also affects the pancreas, which can cause frequent diarrhea and stomach pain, trouble gaining weight, and diabetes. Some children with Person syndrome may also have problems with their liver, kidneys, heart, eyes, ears, and/or brain.
Pearson syndrome is caused by a change (mutation) in the mitochondrial DNA. These mutations can make it hard for the cells of the body to make energy. Most cases of Pearson syndrome happen for the first time in a family which means it is not passed down from either parent (de novo mutation).
Diagnosis of Pearson syndrome is possible through a bone marrow biopsy, a urine test, or a special stool test. Genetic testing can be completed to confirm the diagnosis. Treatment options include frequent blood transfusions, pancreatic enzyme replacement therapy, and treatment of infections. Sadly, many children with Pearson syndrome die during infancy. Some children may survive into later childhood, but may go on to develop Kearns-Sayre syndrome.
For more information, visit GARD.