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Pearson Syndrome Treatment & Management

  • Author: Zora R Rogers, MD; Chief Editor: Hassan M Yaish, MD  more...
 
Updated: May 05, 2016
 

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 (ADEK) may also be needed.

Although without controlled evidence of benefit, many clinicians offer supplementation with coenzyme Q and additional supplementation with carnitine and riboflavin.

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.[27]

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.[28] 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.[28]

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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.

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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.

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Diet

No dietary restrictions or modifications are required.

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Activity

No specific restrictions to activity are required.

Patients with neuromuscular manifestations may require appropriate support.

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Contributor Information and Disclosures
Author

Zora R Rogers, MD Professor of Pediatrics, University of Texas Southwestern Medical Center; Clinical Director of Hematology, Pauline Allen Gill Center for Cancer and Blood Disorders, Children’s Medical Center Dallas; Consulting Pediatric Hematologist/Oncologist, Parkland Memorial Hospital

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

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

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; Associate Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; 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 Society of Pediatric Hematology/Oncology, American Federation for Clinical Research, Council on Medical Student Education in Pediatrics, Hemophilia and Thrombosis Research Society, American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology

Disclosure: Nothing to disclose.

Chief Editor

Hassan M Yaish, MD Medical Director, Intermountain Hemophilia and Thrombophilia Treatment Center; Professor of Pediatrics, University of Utah School of Medicine; Director of Hematology, Pediatric Hematologist/Oncologist, Department of Pediatrics, Primary Children's Medical Center

Hassan M Yaish, MD is a member of the following medical societies: American Academy of Pediatrics, New York Academy of Sciences, American Medical Association, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Michigan State Medical Society

Disclosure: Nothing to disclose.

Additional Contributors

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

Sharada A Sarnaik, MBBS is a member of the following medical societies: American Society of Hematology, American Society of Pediatric Hematology/Oncology, New York Academy of Sciences, Society for Pediatric Research, Children's Oncology Group, American Academy of Pediatrics, Midwest Society for Pediatric Research

Disclosure: Nothing to disclose.

References
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  14. 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. 1993 Jan. 152(1):44-50. [Medline].

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  16. 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. 1991 Jan. 48(1):39-42. [Medline].

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

  18. 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. 2003 Dec. 25(12):948-51. [Medline].

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  20. Momont AC, Trobe JD. Transient corneal edema and left hemisphere dysfunction in pearson syndrome. J Neuroophthalmol. 2009 Jun. 29(2):158-9. [Medline].

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  22. Crippa BL, Leon E, Calhoun A, Lowichik A, Pasquali M, Longo N. Biochemical abnormalities in Pearson syndrome. Am J Med Genet A. 2015 Mar. 167A (3):621-8. [Medline].

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  24. Ozbek N, Derbent M, Olcay L, Yilmaz Z, Tokel K. Dysplastic changes in the peripheral blood of children with microdeletion 22q11.2. Am J Hematol. 2004 Oct. 77(2):126-31. [Medline].

  25. Angotti LB, Post GR, Robinson NS, et al. Pancytopenia with myelodysplasia due to copper deficiency. Pediatr Blood Cancer. 2008 Nov. 51(5):693-5. [Medline].

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

  27. Baertling F, Meissner T, Troeger A, Pillekamp F, Mayatepek E, Laws HJ, et al. Granulocyte colony stimulating factor for treatment of neutropenia-associated infection in Pearson syndrome. Klin Padiatr. 2014 May. 226(3):190-1. [Medline].

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

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