Pearson Syndrome

What is Pearson syndrome?

Pearson syndrome is a disorder that affects multiple systems throughout the body, characterized by pancreatic and hematological symptoms. It is often fatal in infancy, and survivors develop Kearns-Sayre syndrome and myelodysplastic syndrome.

Only 100 cases have been reported in medical literature, although the actual number of cases is most likely higher due to misdiagnosis or no diagnosis at all.

What are the symptoms of Pearson syndrome?

The cells of bone marrow are affected in this syndrome, resulting in issues with the red blood cells, white blood cells, and platelets. Some affected individuals see problems with all three types of cells, while others only have issues with one or two. A lack of red blood cells causes anemia, low numbers of white blood cells results in neutropenia, and low platelets cause thrombocytopenia.

The pancreas is also affected, which results in symptoms like diarrhea, issues with gaining weight, and stomach pain. If the pancreas has problems producing insulin, then an affected individual may also have diabetes.

Other systems throughout the body may be affected, such as the eyes, heart, liver, kidneys, brain, and ears.

What causes Pearson syndrome?

Changes in the mitochondrial DNA are responsible for this syndrome, and they make it difficult for the mitochondria to produce energy. The mutations happen when the egg or sperm is being made, meaning that they are not passed down from parent to child.

How is Pearson syndrome diagnosed?

Doctors will use multiple tests to diagnose Pearson syndrome, such as a bone marrow biopsy, bowel movement sample, urine tests, and genetic testing.

What are the treatments for Pearson syndrome?

There is no cure for this condition; treatment is aimed at the specific symptoms. Patients may receive blood transfusions and pancreatic enzyme replacement. A team of specialists is often needed to address the symptoms. It is important that affected individuals stay away from people who are sick, as they cannot fight off illnesses.

Where can I find out more about Pearson syndrome?