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Pearson's Syndrome
Monday, 19 April 2004
Monday, 09 October 2006
Pearson Marrow-Pancreas Syndrome

What

Pearson’s Syndrome is a rare disorder that affects the cells of many different organ systems. Children with this syndrome have anemia, trouble with their ability to absorb nutrients, and trouble with their ability to regulate electrolytes in their bodies. They may also have variable amounts of liver, kidney, and endocrine (hormonal) failure.

Who

Pearson’s Syndrome is a rare disorder that affects boys and girls equally. It is passed on to children from their parents in a pattern called sporadic mitochondrial DNA mutation. This means that other people in the family have not had the illness before.

Signs and Symptoms

Children with Pearson’s Syndrome are most often diagnosed in infancy. The following symptoms may be present immediately after birth, and many of them will become worse over time: 1. Pale skin color due to anemia (small numbers of red blood cells) 2. Frequent infections due to neutropenia (small numbers of white blood cells) 3. Easy bruising or bleeding due to thrombocytopenia (small numbers of platelets) 4. Diarrhea due to malabsorption (this occurs when the intestines cannot absorb nutrients) 5. Failure to grow caused by endocirine disturbances (growth hormone deficiency, low thyroid or parathyroid function)

Possible Causes

The cause of Pearson’s Syndrome is a defect in the mitochondria of your child’s cells. Mitochondria are the tiny parts in your child’s cells that help produce energy. Children with Pearson’s Syndrome are missing pieces of DNA from their mitochondria. This means that cells cannot work properly; they do not have enough energy to build other cells, to clear out waste products, or to build enzymes.

Diagnosis

Making the diagnosis of Pearson’s Syndrome begins with measuring the levels of red blood cells, white blood cells and platelets in your child’s blood. Blood tests will also be performed to measure the levels of enzymes (proteins with digestive function) made by your child’s pancreas. The pancreas is the organ that helps us digest our foods. If it isn’t working properly, enzyme levels are low and nutrients do not get absorbed. A sample of your child’s stool may be examined to determine if malabsorption is present. Urine studies and liver studies may also be performed to detect renal or hepatic involvement. To provide the final diagnosis, however, a bone marrow biopsy will be performed. This is a special test in which a needle is used to take a piece of your child’s bone marrow (the soft tissue in the middle of our bones) for examination under a microscope.

Treatment

No specific therapy exists for children with Pearson’s. Treatment for Pearson’s Syndrome focuses on treating its complications. Your child may need a transfusion of red blood cells when his or her levels gets too low. A medicine called erythropoietin can help your child make more red blood cells. A medicine called filgrastim or GCSF can also be used to help your child make more white blood cells. If your child’s pancreas is involved, enzymes can be replaced orally. Great care will need to be taken to prevent your child from developing infections, and antibiotic therapy will be needed if your child has a fever. Currently there is no cure, but research is ongoing.

Prognosis

In the past, children with Pearson’s Syndrome were not expected to live beyond the age of 3. The most common cause of death in these children was severe infection or metabolic crisis. With careful monitoring and treatments, however, children can now live longer lives. It is important to know that some children with Pearson’s Syndrome recover from their anemia and survive beyond childhood.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

eMedicine http://www.emedicine.com/ped/topic1750.htm eMedicine Website: a private, U.S.-based company with extensive articles written by physicians for other health care providers. This site provides detailed and technical descriptions of specific illnesses. National Cancer Institute—Inherited Bone Marrow Failure Syndromes http://marrowfailure.cancer.gov/PEARSON.html Serves both families and health professionals with disease descriptions and information, as well as research information.

Google Search for Pearson's Syndrome

References and Sources

Deal K, Finegold D, Contis L, Cropcho L (1997). Anemia, neutropenia and lactic acidosis. Available online @ http://path.upmc.edu/cases/case104.html. Durie PR (1996). Chapter 15.24 Exocrine pancreas. In: Rudolph AM, Hoffman JIE, Rudolph CD (eds.) Rudolph’s Pediatrics, 20th ed., Appleton & Lange, page 1119. Glader B (2004). Pearson marrow-pancreas syndrome. In: Behrman RE, Kleigman RM, Jenson HB (eds.) Nelson Textbook of Pediatrics, 17th ed., W.B. Saunders Company, pages 1607-1608.