Pearson Syndrome | Symptoms & Causes

What are the symptoms of Pearson syndrome?

Many children with Pearson syndrome are (or become) anemic. This occurs when the iron, typically found in the hemoglobin, ends up instead in the mitochondria, the power generators of the cell. Without hemoglobin, these cells cannot carry oxygen.

When a person has too few white blood cells (neutropenia) it is more difficult for the body to fight infection, which can cause frequent colds and sickness. When there aren’t enough platelets (thrombocytopenia), the blood does not clot as well, which can cause a child to take a long time to stop bleeding. Some children with Pearson syndrome may have problems with blood cells, while others may not.

Pearson syndrome may also affect the pancreas, a gland found in the abdomen responsible for making digestive enzymes that break down the food we eat. The pancreas also produces hormones, which help control the sugar levels in our blood, known as insulin and glucagon.

Your child with Pearson syndrome may show symptoms of:

 Some children with Person syndrome may also have problems with:

  • liver
  • kidneys
  • heart
  • eyes
  • ears
  • brain

What are the causes of Pearson syndrome?

Pearson syndrome is caused by a problem within the DNA. While most DNA is nuclear — contained in the center of the body’s cells — there is a small portion of DNA contained in another part of the cell called the mitochondria. This section of DNA makes the energy by combining oxygen with the sugars and fats from food sources.

Pearson syndrome is usually caused by missing pieces — called deletions — of a part of the mitochondrial DNA. Changes in mitochondrial DNA make it hard for the cell to make energy.

Most cases of Pearson syndrome occur by mistake during the time when the egg or sperm were being made, also called de novo mutation. This means the disease was not passed down or inherited from either parent and no other family member has the disease.