Pearson Syndrome

Pearson syndrome is a rare and serious mitochondrial disease. Mitochondria are parts of your cells that turn food into energy. This energy powers your body’s organs and systems.

In Pearson syndrome, changes (mutations) in mitochondrial DNA affect how well your child’s cells make energy. This mainly impacts the bone marrow, pancreas, and other organs like the liver.

Usually diagnosed in infancy, the condition often can cause problems with blood, like shortages of:

• Red blood cells (anemia)
• White blood cells (neutropenia)
• Platelets (thrombocytopenia)

Other names for Pearson syndrome include Pearson bone marrow pancreas syndrome and Pearson marrow pancreas syndrome.

Symptoms of Pearson syndrome

Pearson syndrome symptoms might include:

• Easy bruising
• Fatigue and weakness
• Frequent bouts of diarrhea
• Frequent infections
• Growth faltering (children may be shorter or weigh less than their peers)
• Pale skin
• Poor muscle tone
• Vomiting
• Yellowing of skin and the whites of their eyes (jaundice)

Other issues may develop over time, including:

• Diabetes
• Hearing loss
• Kearns-Sayre syndrome, a condition that affects your neuromuscular system and heart
• Movement disorders or seizures
• Vision problems like droopy eyelids, retinitis pigmentosa and cataracts

Pearson syndrome causes

Pearson syndrome happens when there are defects in your mitochondrial DNA (mtDNA). Mitochondria, found in nearly all your body’s cells, produce the energy your cells need to function properly. When mitochondria are defective, cells don’t receive adequate energy, leading them to become damaged or die prematurely. Scientists haven’t yet fully understood why these mtDNA defects occur or how they directly lead to symptoms.

Is Pearson syndrome inherited?

Most cases of Pearson syndrome occur for unknown reasons. While it can be inherited (passed down from biological parent to child), those cases are rare and not well understood.

How doctors diagnose Pearson syndrome

If your provider suspects that your child has Pearson syndrome, they may order the following tests:

• Blood tests
• Bone marrow biopsy
• Stool test
• Urinalysis (urine test)

A pathologist will look at bone marrow cells under a microscope to identify abnormalities. These can include blood cells that contain fluid-filled pockets or red blood cells with iron buildup.

How is Pearson syndrome treated?

There’s no cure for Pearson syndrome. Treatment aims to decrease symptoms and make your child more comfortable. This may include:

• Blood transfusions
• Physical therapy and occupational therapy
• Stem cell transplant
• Supplements such as coenzyme Q10, L-carnitine and vitamins
• Treatment for infections with antibiotics and antivirals

Children who live past infancy may need to see several specialists for their livers, kidneys, hearts and pancreases.

What is the life expectancy for people with Pearson syndrome?

About half of people with Pearson syndrome die during infancy or early childhood. Only a few survive into their teenage years. The condition ultimately causes advanced lactic acidosis and organ failure.

How can I cope with Pearson syndrome?

Receiving a Pearson syndrome diagnosis can be overwhelming and difficult for your family. Surround yourself with supportive healthcare providers, family and friends. Joining support groups for families facing rare or serious childhood conditions might help you feel less isolated.

Educating others about mitochondria and Pearson syndrome isn’t your responsibility — plenty of resources exist. Your community likely wants to help but may be unsure how to do so. Be specific about your needs. Whether it’s spending private time with your child or having moments alone for yourself, clearly communicating your needs helps your community provide the right support. It’s OK to accept help with practical tasks like grocery shopping, dog walking or meal preparation.