Pearson syndrome

What else is it called?

  • Pearson marrow-pancreas syndrome

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What causes it?

Pearson syndrome is an autosomal recessive condition which predominately affects the development of cells known as haemopoietic stem cells [red blood, white blood and platelet forming cells] which are found in the bone marrow. The mitochondria, which is known as the energy production centre of the cell produces its own DNA, an error [deletion] to the strand of DNA is believed to be what is behind this Pearsons syndrome. This deletion results in the loss of genes which otherwise help to produce stem cells in mass production. This can lead to a lack of red blood cell formation, white blood cells and platelets which can have significant health consequences.

How common is it?

Some research suggests there is as little as 60 individuals who have been diagnosed worldwide and that both sexes are impacted equally. There is no information into whether this condition impacts specific ethnicities more than others.


What are the signs and symptoms?

Symptoms of Pearson syndrome first present in infancy, although there have been cases reported when symptoms are reported in childhood. Some of the more common signs and symptoms of this condition are:

  • Anaemia
  • Impaired pancreatic function
  • Pale skin
  • Fatigue
  • Muscle weakness
  • Neutropenia [low level of white blood cells]
  • Thrombocytopenia [low level of thrombocyte production
  • Renal failure
  • Diarrhoea

Neutropenia can lead to frequent infections, as the neutrophils which are low in number with this condition due to low production from stem cells in the bone marrow are involved in protecting us against harmful bacteria. This may also result in being easily bruised and bleeding due to a lack of platelet formation in the body.

How is it diagnosed?

The diagnosis of Pearson syndrome can be made via bone marrow analysis, to check for any abnormalities. This would usually involve taking a small piece of skin to analyse, this produce is referred to as a biopsy. Other diagnostic tools that may be used are urinalysis, which can either be a one-off sample or a 24-hour urine collection or a stool sample analysis.

Can it be treated?

There is no cure for Pearson syndrome. Children with this condition may have frequent blood transfusions. This method is used to supply the body with red blood cells which supply the body with oxygen that the body may be lacking with this disorder and treat anaemia.

Enzyme replacement therapy [ERT] is another method that is offered with this condition, this is in an effort to replace the pancreatic enzymes that are missing with this condition, a supply of enzymes helps the body to digest food. Previous literature has shown that stem cell transplant is unsuccessful with this condition, further research is being carried out in an effort to cure this condition.

Currently, there is no cure for Pearson syndrome. The treatment that is given is usually aimed at managing symptoms as they present. Pearson syndrome can be quite sporadic with its expression of symptoms. Sadly, this condition has severe health consequences and children tend not to make it past the age of 4. This is due to metabolic crisis or acidifying the blood due to a toxic build-up of metabolites. Sometimes children may survive the health risks of this condition and develop another metabolic condition called Kearns-Sayre syndrome. For more information on Kearns-Sayre syndrome please see the summary on this condition on the website.

Do my family need to be tested?

Pearson syndrome can only be passed on to a child if both parents have a copy of the faulty gene. This is called autosomal recessive inheritance. A person who has a copy of the faulty gene is known as a carrier.

If both parents are carriers, their child has a one in four (25%) chance of inheriting the disorder, and a one in two chance (50%) of being a carrier. This is the same for each child the parents have.

If the child only inherits one copy of the faulty gene, they will be a carrier but will not have the disorder. In some rare cases, carriers have had mild symptoms of the disorder for which they carry the faulty gene.

Once you are diagnosed, you can speak to a genetic counsellor. They can explain how you may have inheritedPearson syndrome. They can also tell you about genetic testing for the rest of your family. They can provide advice and support if you go on to have children of your own.

If you have previously had a child with Pearson syndrome and go on to have further children, their New-born Screening test should be carried out within 24-48 hours of birth.

Relevant Organisations


References are available on request. Please contact Helen Morris by phoning 0845 241 2173 or emailing [Resource Library No: AAP002].

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