Pearson Syndrome Clinical Presentation

  • Author: Zora R Rogers, MD; Chief Editor: Robert J Arceci, MD, PhD   more...
 
Updated: Jan 25, 2010
 

History

The history is nonspecific, with the constellation of symptoms guiding the evaluation.

The patient may have been pale since birth suggesting refractory anemia.

Birth weight may have been low, and the infant may not have gained weight well. This may be confirmed with a careful growth chart.

Chronic diarrhea and fatty stools may be noted and suggest pancreatic exocrine deficiency as a cause for failure to thrive.

Previous illnesses or hospitalizations may include episodes of anorexia, vomiting, fever, and lethargy in association with electrolytic abnormalities, lactic acidosis, and hepatic dysfunction.

Development may be abnormal with the presence of neuromuscular abnormalities such as tremor, abnormal tone, and lethargy.

Dietary history is important to exclude deficiencies of copper, riboflavin, and phenylalanine, which may cause anemia with vacuolization of hematopoietic precursors, similar to that observed in Pearson syndrome.

History of medication exposure to rule out contact with drugs that may damage the bone marrow. For example, chloramphenicol can cause sideroblastic changes and vacuolization of hematopoietic precursors in the bone marrow, similar to the changes observed in individuals with Pearson syndrome.

Family history of unexplained pancytopenia, failure to thrive, acidosis, pancreatic insufficiency, neuromuscular dysfunction, or early death is important to document.

Some constitutional anemias and inherited bone marrow failure syndromes, such as X-linked sideroblastic anemia and Diamond-Blackfan anemia, occur in families. A careful family history can alert the clinician to these possible diagnoses.

Although mitochondropathies can be inherited maternally, Pearson syndrome appears to be sporadic.

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Physical

No pathognomonic physical characteristics are observed.

Anemia causes pallor.

The patient's weight may be low for age, and some patients may appear cachectic.

Hepatomegaly, often progressive, may occur.

Patchy erythema and photosensitivity are also reported.

Examine the patient for anomalies associated with other inherited bone marrow failure syndromes that present in the young child. For example, anomalies of the thumbs and radial ray may suggest Fanconi anemia, Diamond-Blackfan anemia, or the thrombocytopenia-absent radii syndrome.

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Causes

Abnormalities of mitochondrial DNA (mtDNA) (predominantly deletions, although rearrangements and duplications have also been observed) cause Pearson syndrome.

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Contributor Information and Disclosures
Author

Zora R Rogers, MD  Professor of Pediatrics, University of Texas Southwestern Medical Center; Attending Pediatric Hematologist/Oncologist, Center for Cancer and Blood Disorders, Children's Medical Center; Consulting Pediatric Hematologist/Oncologist, Parkland Memorial Hospital

Zora R Rogers, MD is a member of the following medical societies: American Academy of Pediatrics, American Association of Blood Banks, American Pediatric Society, American Society of Clinical Oncology, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Histiocyte Society, Society for Pediatric Research, and Texas Pediatric Society

Disclosure: Nothing to disclose.

Coauthor(s)

Charles T Quinn, MD, MS  Associate Professor, Department of Pediatrics, Division of Hematology-Oncology, University of Texas Southwestern Medical Center at Dallas

Charles T Quinn, MD, MS is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research, and Texas Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Sharada A Sarnaik, MBBS  Professor of Pediatrics, Wayne State University School of Medicine; Director, Sickle Cell Center, Attending Hematologist/Oncologist, Children's Hospital of Michigan

Sharada A Sarnaik, MBBS is a member of the following medical societies: American Association of Blood Banks, American Association of University Professors, American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Pharmacy Editor, eMedicine

Disclosure: Nothing to disclose.

James L Harper, MD  Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Assistant Clinical Professor, Department of Pediatrics, Creighton University; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Federation for Clinical Research, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Council on Medical Student Education in Pediatrics, and Hemophilia and Thrombosis Research Society

Disclosure: Nothing to disclose.

Samuel Gross, MD  Professor Emeritus, Department of Pediatrics, University of Florida; Clinical Professor, Department of Pediatrics, University of North Carolina; Adjunct Professor, Department of Pediatrics, Duke University

Samuel Gross, MD is a member of the following medical societies: American Association for Cancer Research, American Society for Blood and Marrow Transplantation, American Society of Clinical Oncology, American Society of Hematology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Chief Editor

Robert J Arceci, MD, PhD  King Fahd Professor of Pediatric Oncology, Professor of Pediatrics, Oncology and the Cellular and Molecular Medicine Graduate Program, Kimmel Comprehensive Cancer Center at Johns Hopkins University School of Medicine

Robert J Arceci, MD, PhD is a member of the following medical societies: American Association for Cancer Research, American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, and American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

References

  1. Pearson HA, Lobel JS, Kocoshis SA, et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr. Dec 1979;95(6):976-84. [Medline].

  2. Manea EM, Leverger G, Bellmann F, et al. Pearson syndrome in the neonatal period: two case reports and review of the literature. J Pediatr Hematol Oncol. Dec 2009;31(12):947-51. [Medline].

  3. Morel AS, Joris N, Meuli R, et al. Early neurological impairment and severe anemia in a newborn with Pearson syndrome. Eur J Pediatr. Mar 2009;168(3):311-5. [Medline].

  4. Faraci M, Cuzzubbo D, Micalizzi C, et al. Allogeneic bone marrow transplantation for Pearson's syndrome. Bone Marrow Transplant. May 2007;39(9):563-5. [Medline].

  5. Blaw ME, Mize CE. Juvenile Pearson syndrome. J Child Neurol. Jul 1990;5(3):187-90. [Medline].

  6. Cormier V, Rotig A, Quartino AR, et al. Widespread multi-tissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. J Pediatr. Oct 1990;117(4):599-602. [Medline].

  7. De Vivo DC. The expanding clinical spectrum of mitochondrial diseases. Brain Dev. Jan-Feb 1993;15(1):1-22. [Medline].

  8. Gibson KM, Bennett MJ, Mize CE, et al. 3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. J Pediatr. Dec 1992;121(6):940-2. [Medline].

  9. Harding AE, Hammans SR. Deletions of the mitochondrial genome. J Inherit Metab Dis. 1992;15(4):480-6. [Medline].

  10. Kerr DS. Protean manifestations of mitochondrial diseases: a minireview. J Pediatr Hematol Oncol. Jul-Aug 1997;19(4):279-86. [Medline].

  11. Knerr I, Metzler M, Niemeyer CM, et al. Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA. J Pediatr Hematol Oncol. Dec 2003;25(12):948-51. [Medline].

  12. Krauch G, Wilichowski E, Schmidt KG, Mayatepek E. Pearson marrow-pancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA. Am J Med Genet. Jun 1 2002;110(1):57-61. [Medline].

  13. Lee HF, Lee HJ, Chi CS, Tsai CR, Chang TK, Wang CJ. The neurological evolution of Pearson syndrome: Case report and literature review. Eur J Paediatr Neurol. Apr 13 2007;[Medline].

  14. McShane MA, Hammans SR, Sweeney M, et al. Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA. Am J Hum Genet. Jan 1991;48(1):39-42. [Medline].

  15. Muraki K, Nishimura S, Goto Y, et al. The association between haematological manifestation and mtDNA deletions in Pearson syndrome. J Inherit Metab Dis. Sep 1997;20(5):697-703. [Medline].

  16. Rotig A, Bourgeron T, Chretien D, et al. Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum Mol Genet. Aug 1995;4(8):1327-30. [Medline].

  17. Rotig A, Cormier V, Koll F, et al. Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. Genomics. Jun 1991;10(2):502-4. [Medline].

  18. Rötig A, Cormier V, Blanche S, et al. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest. Nov 1990;86(5):1601-8. [Medline].

  19. Seneca S, De Meirleir L, De Schepper J, et al. Pearson marrow pancreas syndrome: a molecular study and clinical management. Clin Genet. May 1997;51(5):338-42. [Medline].

  20. [Best Evidence] Stacpoole PW, Kerr DS, Barnes C, et al. Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children. Pediatrics. May 2006;117(5):1519-31. [Medline].

  21. Stoddard RA, McCurnin DC, Shultenover SJ, et al. Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonate. J Pediatr. Aug 1981;99(2):259-61. [Medline].

  22. Superti-Furga A, Schoenle E, Tuchschmid P, et al. Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA. Eur J Pediatr. Jan 1993;152(1):44-50. [Medline].

 
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Characteristic vacuolization of a hematopoietic precursor in the bone marrow. (Light microscopy; 100x; Wright-Giemsa stain)
Electron photomicrograph of a hematopoietic precursor (normoblast) with vacuolization. (Transmission electron microscopy; original 10,000x)
Ringed sideroblast in the bone marrow (iron stain). The dark structures that form a ring around the nucleus are hemosiderin-laden mitochondria. (Light microscopy; 100x; iron stain)
 
 
 
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