Pearson Syndrome Treatment & Management

Author: Zora R Rogers, MD; Chief Editor: Robert J Arceci, MD, PhD more...

Updated: Jan 25, 2010

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Medical Care
Surgical Care
Consultations
Diet
Activity
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Medical Care

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

Red blood cell transfusions are often needed to manage the macrocytic anemia, and patients may be dependent on transfusions. Erythropoietin has been tried 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.

In neutropenic patients, fever higher than 101.5 º F should be evaluated promptly. Parenteral antibiotics should be administered after blood is obtained. Splenic atrophy may also increase the risk of bacteremia due to encapsulated organism. Granulocyte colony-stimulating factor (G-CSF) has been used in some patients to ameliorate 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 should be screened for and treated, if present.

Stem cell transplantation has been reported in only one individual with Pearson syndrome.^[4]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.^[4]

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

Patient should be seen in consultation by and managed in collaboration with an expert in metabolism and genetics in addition to a hematologist.

If endocrine, renal, or cardiac complications are present, appropriate specialists should be involved in comanagement.

Diet

No dietary restrictions or modifications are required.

Activity

No specific restrictions to activity are required.

Patients with neuromuscular manifestations may require appropriate support.

Proceed to Medication

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

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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].
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].
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].
Blaw ME, Mize CE. Juvenile Pearson syndrome. J Child Neurol. Jul 1990;5(3):187-90. [Medline].
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].
De Vivo DC. The expanding clinical spectrum of mitochondrial diseases. Brain Dev. Jan-Feb 1993;15(1):1-22. [Medline].
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].
Harding AE, Hammans SR. Deletions of the mitochondrial genome. J Inherit Metab Dis. 1992;15(4):480-6. [Medline].
Kerr DS. Protean manifestations of mitochondrial diseases: a minireview. J Pediatr Hematol Oncol. Jul-Aug 1997;19(4):279-86. [Medline].
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].
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].
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].
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].
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].
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].
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].
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].
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].
[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].
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].
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].

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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