Pearson syndrome

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Other Names:

Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly); Pearson's marrow/pancreas syndrome; Pearson's syndrome; Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly); Pearson's marrow/pancreas syndrome; Pearson's syndrome; Pearson marrow-pancreas syndrome See More

Categories:

Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases; Blood Diseases; Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases; Eye diseases; Immune System Diseases; Metabolic disorders See More

Summary Summary

Pearson syndrome affects many parts of the body but especially the bone marrow and the pancreas. Pearson syndrome affects the cells in the bone marrow (hematopoietic stem cells) that produce red blood cells, white blood cells, and platelets. Having too few red blood cells (anemia), white blood cells (neutropenia), or platelets (thrombocytopenia) can cause a child to feel weak and tired, be sick more often, bruise more easily and take a longer time to stop bleeding when cut. Pearson syndrome also affects the pancreas, which can cause frequent diarrhea and stomach pain, trouble gaining weight, and diabetes. Some children with Person syndrome may also have problems with their liver, kidneys, heart, eyes, ears, and/or brain.^[1]^[2]^[3]^[4]

Pearson syndrome is caused by a change (mutation) in the mitochondrial DNA. These mutations can make it hard for the cells of the body to make energy. Most cases of Pearson syndrome happen for the first time in a family which means it is not passed down from either parent (de novo mutation).^[1]^[2]^[3]^[4]

Diagnosis of Pearson syndrome is possible through a bone marrow biopsy, a urine test, or a special stool test. Genetic testing can be completed to confirm the diagnosis. Treatment options include frequent blood transfusions, pancreatic enzyme replacement therapy, and treatment of infections. Sadly, many children with Pearson syndrome die during infancy. Some children may survive into later childhood, but may go on to develop Kearns-Sayre syndrome.^[1]^[2]^[3]^[4]

Last updated: 10/26/2016

Symptoms Symptoms

Pearson syndrome affects the cells in the bone marrow (hematopoietic stem cells) that produce red blood cells, white blood cells, and platelets. When there aren't enough healthy red blood cells (anemia), the body becomes very weak, the child's skin is pale, and the child is very tired (fatigued).^[1]^[2]^[3] Children with Pearson syndrome are anemic because the iron which should be in the hemoglobin, ends up instead in the mitochondria. Without hemoglobin, these cells (ringed sideroblast) 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 a person doesn't have 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 have problems with all three blood cell types, but other children may not.^[1]^[2]^[3]^[4]

Pearson syndrome may also affect the pancreas, which is a gland found in our abdomen or belly. The pancreas is responsible for making special proteins called digestive enzymes which break down the food we eat. The pancreas also produces hormones (insulin and glucagon) which help control the sugar levels in our blood. A child with Pearson syndrome can have symptoms such as frequent diarrhea and stomach pain, and it may be difficult for them to gain weight. They may also have diabetes if the pancreas doesn't produce enough insulin. Some children with Person syndrome may also have problems with their liver, kidneys, heart, eyes, ears, and/or brain.^[1]^[2]^[3]^[4]

Last updated: 10/26/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 72 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Bone marrow hypocellularity	Bone marrow failure	0005528
Elevated lactate:pyruvate ratio		0032653
Hyperalaninemia	Increased blood alanine Increased serum alanine [ more ]	0003348
Lacticaciduria	High urine lactic acid levels	0003648
Neutropenia	Low blood neutrophil count Low neutrophil count [ more ]	0001875
Reticulocytosis	Increased immature red blood cells Increased number of immature red blood cells [ more ]	0001923
Severe infection		0032169
30%-79% of people have these symptoms
Anemia	Low number of red blood cells or hemoglobin	0001903
Cardiomyopathy	Disease of the heart muscle	0001638
Corneal stromal edema		0012040
Exocrine pancreatic insufficiency	Inability to properly digest food due to lack of pancreatic digestive enzymes	0001738
Hepatomegaly	Enlarged liver	0002240
Increased CSF lactate		0002490
Increased serum lactate		0002151
Postnatal growth retardation	Growth delay as children	0008897
Renal insufficiency	Renal failure Renal failure in adulthood [ more ]	0000083
Small for gestational age	Birth weight less than 10th percentile Low birth weight [ more ]	0001518
Splenomegaly	Increased spleen size	0001744
Thrombocytopenia	Low platelet count	0001873
5%-29% of people have these symptoms
Ataxia		0001251
Cardiac conduction abnormality		0031546
Cataract	Clouding of the lens of the eye Cloudy lens [ more ]	0000518
Chronic diarrhea		0002028
Decreased serum bicarbonate concentration		0032066
Dehydration		0001944
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
Diabetes mellitus		0000819
Dysphagia	Poor swallowing Swallowing difficulties Swallowing difficulty [ more ]	0002015
Elevated hepatic transaminase	High liver enzymes	0002910
Global developmental delay		0001263
Glycosuria	Glucose in urine	0003076
Growth hormone deficiency		0000824
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hepatic failure	Liver failure	0001399
Hepatic steatosis	Fatty infiltration of liver Fatty liver [ more ]	0001397
Hydrops fetalis		0001789
Hypocalcemia	Low blood calcium levels	0002901
Hypokalemia	Low blood potassium levels	0002900
Hypomagnesemia	Low blood magnesium levels	0002917
Hypophosphatemia	Low blood phosphate level	0002148
Hypothyroidism	Underactive thyroid	0000821
Lactic acidosis	Increased lactate in body	0003128
Malabsorption of Vitamin B12		0200118
Muscular hypotonia of the trunk	Low muscle tone in trunk	0008936
Ophthalmoplegia	Eye muscle paralysis	0000602
Pancreatic fibrosis		0100732
Pancytopenia	Low blood cell count	0001876
Pigmentary retinopathy		0000580
Poor suck	Poor sucking	0002033
Proteinuria	High urine protein levels Protein in urine [ more ]	0000093
Ptosis	Drooping upper eyelid	0000508
Seizure		0001250
Steatorrhea	Fat in feces	0002570
1%-4% of people have these symptoms
Adrenal insufficiency		0000846
Cafe-au-lait spot		0000957
Cutaneous photosensitivity	Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity [ more ]	0000992
Hyperpigmentation of the skin	Patchy darkened skin	0000953
Hypoparathyroidism	Decreased parathyroid hormone secretion	0000829
Hypoplastic spleen	Underdeveloped spleen	0006270
Macronodular cirrhosis		0006577
Median cleft lip and palate	Central cleft lip and palate Midline cleft lip/palate [ more ]	0008501
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Renal cyst	Kidney cyst	0000107
Percent of people who have these symptoms is not available through HPO
3-Methylglutaric aciduria		0003344
Complex organic aciduria		0008336
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Malabsorption	Intestinal malabsorption	0002024
Mitochondrial inheritance		0001427
Refractory sideroblastic anemia		0004864
Renal Fanconi syndrome		0001994
Type I diabetes mellitus	Type 1 diabetes Type I diabetes [ more ]	0100651

Showing of 72 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Cause Cause

Pearson syndrome is a genetic disease, meaning that it is caused by a problem in the DNA. Most DNA is contained in the center of our cells (nuclear DNA ), but a small part of our DNA is contained in a part of our cells called the mitochondria. Mitochondria make the energy for the cells in our body by combining oxygen with sugars and fats that come from the food we eat.^[1]^[2]^[3]

Changes in mitochondrial DNA make it hard for the cell to make energy. Pearson syndrome is usually caused by deletions of a part of the mitochondrial DNA (pieces of the DNA are missing). Most cases of Pearson syndrome occur by mistake (de novo mutation) during very early development of the embryo. Sometimes the deletion occurs in the egg cell. This means that the disease was not passed down or inherited from either parent and no other family member has the disease.^[1]^[2]^[3]^[5]

DNA contains genes which are the instructions (genetic code) the cell uses to make proteins. Proteins do most of the work in cells of our body. Many of the proteins coded by the genes in the mitochondrial DNA are needed to help make energy. When pieces of mitochondrial DNA are missing, important genes are missing, so the cell does not make energy like it should.

Last updated: 10/26/2016

Diagnosis Diagnosis

Many tests may be needed to diagnose Pearson syndrome, including a bone marrow biopsy to look for signs of sideroblastic anemia or a bowel movement sample to measure the amount of fat in the stool. The doctors may also test the urine to check for certain organic acids which would be a sign of metabolic acidosis. Finally, genetic testing for changes or mutations in mitochondrial DNA would confirm the diagnosis. The results of the genetic test may be especially important. Although Pearson syndrome is usually caused by deletions of mitochondrial DNA, duplication of mitochondrial DNA can also cause symptoms of Pearson syndrome. Whether the condition is caused by a deletion or duplication of DNA may affect how the disease progresses.^[1]^[2]^[3]^[6]

Last updated: 10/28/2016

Treatment Treatment

Unfortunately, there is no cure for Pearson syndrome, and the goal of treatment is to decrease the seriousness of symptoms so the child can live as healthy and as long of a life as possible. Children affected by Pearson syndrome may require frequent blood transfusions to help supply the body with healthy red blood cells. Pancreatic enzyme replacement may also help to replace the missing enzymes needed to digest food, or insulin injections may be necessary to treat diabetes. It is important that children affected by Pearson syndrome avoid other people who are sick with viral or bacterial infections, as these children cannot fight off illnesses as well as other children can.^[1]^[2]^[6] Other treatments depend on the specific symptoms presented by each person with Pearson syndrome. It may be necessary to see specialists for the liver, kidneys, heart, and pancreas. Physical or occupational therapy may be helpful, especially in children who live past infancy.^[1]^[2]^[3]

Unfortunately, a stem cell transplant has not been shown to be helpful in curing a disease that affects many systems in the body like Pearson syndrome does. It is, however, important to ask your doctors about any new or promising treatments for Pearson syndrome.^[1]

Last updated: 10/28/2016

Prognosis Prognosis

Unfortunately, the prognosis for Pearson syndrome is not good. Pearson syndrome usually causes a baby to die while still an infant. If a child lives past infancy, he or she may begin to have fewer symptoms of Pearson syndrome, and the symptoms may be less severe. Many of the children who survive past age 4 go on to have symptoms of a different disease called Kearns-Sayre syndrome. This disease is more likely to affect the brain, spinal cord, and nerves. Symptoms of Kearns-Sayre syndrome include weak eye muscles and difficulty coordinating movements. It is important for a child with Pearson syndrome to be monitored by their doctors for any changes in symptoms as they get older.^[1]^[2]^[3]

Last updated: 10/28/2016

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.
You can submit a question to Ask the Mito Doc, a service of the United Mitochondrial Diseases Foundation. Information contained in Ask the Mito Doc^SM is for informational and educational purposes only.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Pearson syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
The North American Mitochondrial Disease Consortium (NAMDC) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Pearson syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Pearson syndrome:
The Pediatric Myelodysplastic Syndrome (MDS) and Bone Marrow Failure (BMF) Registry
Inherited Bone Marrow Failure Syndrome Study (IBMFS)

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

European Network for Rare and Congenital Anaemias (ENERCA)
University of Barcelona
Red Cell Pathology Unit
C/Villarroel, 170 - 08036
Barcelona
España
Telephone: (34) 93 451 5950
Fax: (34) 93 227 1764
E-mail: enerca@enerca.org
Website: http://www.enerca.org
The Champ Foundation
2712 Little Rogers Rd
Durham, NC 27704
Telephone: +1-727-871-2667
E-mail: contact@thechampfoundation.org
Website: https://www.thechampfoundation.org/
The Mitochondria Research and Medicine Society
PO Box 55322
BLSC Building, Room # 3-316
Elm and Carlton Streets
Birmingham, AL
Telephone: 716-907-4349
Fax: 716-845-1047
E-mail: contact@mitoresearch.org
Website: http://www.mitoresearch.org

Organizations Providing General Support

MitoAction
PO Box 310
Novi, MI 48376
Toll-free: 888-648-6228
E-mail: info@mitoaction.org
Website: https://www.mitoaction.org/
United Mitochondrial Disease Foundation
8085 Saltsburg Road, Suite 201
Pittsburgh, PA 15239
Toll-free: 1-888-317-8633
Telephone: +1-412-793-8077
Fax: +1-412-793-6477
E-mail: info@umdf.org
Website: https://www.umdf.org

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference contains information on Pearson syndrome. This website is maintained by the National Library of Medicine.
The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Pearson syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

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Rare Disease Day at NIH 2021
March 1, 2021

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References References

Rogers ZR. Pearson Syndrome. Medscape Reference. May 5 2016; http://emedicine.medscape.com/article/957186-overview.
Farruggia P, Di Cataldo A, Pinto RM, Palmisani E, Macaluso A, Lo Valvo L, Cantarini ME, Tornesello A, Corti P, Fioredda F, Varotto S, Martire B, Moroni I, Puccio G, Russo G, Dufour C, and Pillon M. Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica). Journal of Inherited Metabolic Disease Reports. August 4, 2015; 26:37-43. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4864774/.
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Caldarazzo Ienco E, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Redefining phenotypes associated with mitochondrial DNA single deletion. Journal of Neurology. May 2015; 262(5):1301-1309. https://www.ncbi.nlm.nih.gov/pubmed/25808502.
What is Pearson Syndrome?. The Champ Foundation. May 5, 2016; http://www.thechampfoundation.org/. Accessed 10/26/2016.
Goldstein A, Falk M. Mitochondrial DNA Deletion Syndromes. GeneReviews. Updated Jan 31, 2019; http://www.ncbi.nlm.nih.gov/books/NBK1203/. Accessed 11/21/2011.
Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, and N Longo. Biochemical abnormalities in Pearson syndrome. American Journal of Medical Genetics. Part A.. March 2015; 167A(3):621-628. https://www.ncbi.nlm.nih.gov/pubmed/25691415.