eMedicine Specialties > Pediatrics: General Medicine > Hematology

Pearson Syndrome: Treatment & Medication

Author: Charles T Quinn, MD, Assistant Professor, Department of Pediatrics, Division of Hematology-Oncology, University of Texas Southwestern Medical Center at Dallas
Contributor Information and Disclosures

Updated: Jul 31, 2007

Treatment

Medical Care

No specific therapy is available for individuals with Pearson syndrome or other mitochondrial cytopathies. Attentive care and awareness of possible complications may prevent death and minimize morbidity.

  • Patients with Pearson syndrome often need transfusions to manage anemia, and many are dependent on transfusions. Some hematologists use erythropoietin to decrease the frequency of transfusions.
  • Pancreatic enzyme replacement is needed for patients with malabsorption due to exocrine pancreatic insufficiency. Supplementation with fat-soluble vitamins may also be needed.
  • Evaluate fever promptly. Parenteral antimicrobials, after the blood is cultured, are required for patients who are neutropenic. Splenic atrophy may increase the risk of bacterial sepsis. Granulocyte colony-stimulating factor (G-CSF) has been used in some patients to prevent or treat severe neutropenia.
  • Manage intermittent metabolic crises with hydration, correction of electrolyte abnormalities, correction of acidosis, and a search for underlying causes (eg, infection). Seek evidence of concomitant hepatic failure. Chronic bicarbonate supplementation and dichloroacetic acid have been used to treat persistent metabolic acidosis.
  • Patients may have hypothyroidism, hypoparathyroidism, diabetes mellitus, or growth hormone deficiency. These conditions need appropriate treatment.
  • Stem cell transplantation has been reported in only one individual with Pearson syndrome.1 Pearson syndrome is a multisystem disorder, thus, transplantation can only correct the hematologic manifestations of the disorder and cannot correct the dysfunction of other systems. Transplantation may be associated with unique or greater than expected toxicities as well.1

Surgical Care

  • No specific surgical management is needed for patients with Pearson syndrome.
  • Some patients may benefit from an indwelling venous catheter to facilitate frequent transfusions or infusions.

Consultations

Consultation and collaboration with an expert in metabolism and genetics are prudent.

Diet

No dietary restrictions or modifications are required.

Activity

No specific restrictions to activity are required. Patients with neuromuscular manifestations may require appropriate support.

Medication

No specific therapy is available for individuals with Pearson syndrome or other mitochondrial cytopathies. Attentive care and awareness of possible complications may prevent death and minimize morbidity. Anecdotal reports describe the use of long-term bicarbonate supplementation and dichloroacetic acid to manage persistent metabolic acidosis.

More on Pearson Syndrome

Overview: Pearson Syndrome
Differential Diagnoses & Workup: Pearson Syndrome
Treatment & Medication: Pearson Syndrome
Follow-up: Pearson Syndrome
Multimedia: Pearson Syndrome
References
[ CLOSE WINDOW ]

References

  1. 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].

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

  3. 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].

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

  5. 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].

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

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

  8. 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].

  9. 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].

  10. 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].

  11. 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].

  12. 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].

  13. 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].

  14. 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].

  15. 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].

  16. 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].

  17. 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].

  18. [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].

  19. 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].

  20. 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].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

Pearson syndrome, Pearson's syndrome, Pearson marrow-pancreas syndrome, Online Mendelian Inheritance in Man #557000, OMIM #557000, sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction, pancytopenia, defective oxidative phosphorylation, exocrine pancreatic insufficiency, Kearns-Sayre syndrome, KSS, marrow failure, Fanconi syndrome, Fanconi's syndrome, Fanconi anemia, Fanconi's anemia, FA, Diamond-Blackfan anemia, DBA, macrocytic anemia

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Charles T Quinn, MD, Assistant Professor, Department of Pediatrics, Division of Hematology-Oncology, University of Texas Southwestern Medical Center at Dallas
Charles T Quinn, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Clinical Oncology, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Society for Pediatric Research, and Texas Medical Association
Disclosure: Nothing to disclose.

Medical Editor

Sharada A Sarnaik, MD, Director of Sickle Cell Program, Department of Pediatrics, Professor, Children's Hospital of Michigan and Wayne State University
Sharada A Sarnaik, MD 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.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine.com, Inc
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

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.

CME Editor

Samuel Gross, MD, Professor Emeritus, Department of Pediatrics, University of Florida, Clinical Professor, Department of Pediatrics, UNC, 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, Department of Oncology, Division of Pediatric Oncology, 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 Clinical Oncology, American Society of Hematology, and American Society of Pediatric Hematology/Oncology
Disclosure: Nothing to disclose.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.