Pediatric Megaloblastic Anemia Differential Diagnoses

  • Author: James L Harper, MD; Chief Editor: Max J Coppes, MD, PhD, MBA   more...
 
Updated: Aug 26, 2011
 
 

Diagnostic Considerations

In a patient with combined folate and vitamin B-12 deficiency, if only the folate deficiency is recognized, folic acid supplementation may be sufficient to drive the production of active 5 methyl tetrahydrofolate (THF) in the absence of vitamin B-12. This results in improvement of the anemia but does not result in improvement of the function of other pathways dependent on B-12.

Clinically, this is apparent as a resolution of megaloblastic anemia, but with progressive dementia and long-tract neurologic deficits. This situation can be avoided by measuring levels of both vitamins, then evaluating and treating both deficiencies, if found.

Other conditions to consider include the following:

  • Aplastic anemia
  • Celiac disease
  • Ecchymoses
  • Granulocytopenia
  • Hyposplenism
  • Myeloproliferative disorders
  • Neutropenia
  • Pancytopenia
  • Tapeworm infection (cestodiasis)
  • Imerslund-Grasbeck disease
  • Thiamine-responsive megaloblastic anemia[1, 2]

Go to Pediatric Chronic Anemia, Anemia of Prematurity, Donath-Landsteiner Hemolytic Anemia, Pediatric Acute Anemia, and Fanconi Anemia for complete information on these topics.

Differential Diagnoses

Proceed to Workup
 
 
Contributor Information and Disclosures
Author

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 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 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.

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; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Steven K Bergstrom, MD  Department of Pediatrics, Division of Hematology-Oncology, Kaiser Permanente Medical Center of Oakland

Steven K Bergstrom, MD is a member of the following medical societies: Alpha Omega Alpha, American Society of Clinical Oncology, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Children's Oncology Group, and International Society for Experimental Hematology

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA  Senior Vice President, Center for Cancer and Blood Disorders, Children's National Medical Center; Professor of Medicine, Oncology, and Pediatrics, Georgetown University School of Medicine; Clinical Professor of Pediatrics, George Washington University School of Medicine and Health Sciences

Max J Coppes, MD, PhD, MBA is a member of the following medical societies: American Association for Cancer Research, American Society of Pediatric Hematology/Oncology, and Society for Pediatric Research

Disclosure: Nothing to disclose.

References
  1. Lorber A, Gazit AZ, Khoury A, Schwartz Y, Mandel H. Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome. Pediatr Cardiol. Sep-Oct 2003;24(5):476-81. [Medline].

  2. Olsen BS, Hahnemann JM, Schwartz M, Østergaard E. Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood. Pediatr Diabetes. Aug 2007;8(4):239-41. [Medline].

  3. Whitehead VM. Acquired and inherited disorders of cobalamin and folate in children. Br J Haematol. Jul 2006;134(2):125-36. [Medline].

  4. Korenke GC, Hunneman DH, Eber S, Hanefeld F. Severe encephalopathy with epilepsy in an infant caused by subclinical maternal pernicious anaemia: case report and review of the literature. Eur J Pediatr. Apr 2004;163(4-5):196-201. [Medline].

  5. Molloy AM, Kirke PN, Brody LC, Scott JM, Mills JL. Effects of folate and vitamin B12 deficiencies during pregnancy on fetal, infant, and child development. Food Nutr Bull. Jun 2008;29(2 Suppl):S101-11; discussion S112-5. [Medline].

  6. Erkurt MA, Aydogdu I, Dikilitas M, Kuku I, Kaya E, Bayraktar N, et al. Effects of cyanocobalamin on immunity in patients with pernicious anemia. Med Princ Pract. 2008;17(2):131-5. [Medline].

  7. Dror DK, Allen LH. Effect of vitamin B12 deficiency on neurodevelopment in infants: current knowledge and possible mechanisms. Nutr Rev. May 2008;66(5):250-5. [Medline].

  8. Dugué B, Ismail E, Sequeira F, Thakkar J, Gräsbeck R. Urinary excretion of intrinsic factor and the receptor for its cobalamin complex in Gräsbeck-Imerslund patients: the disease may have subsets. J Pediatr Gastroenterol Nutr. Aug 1999;29(2):227-30. [Medline].

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Bone marrow aspirate from a patient with untreated pernicious anemia. Megaloblastic maturation of erythroid precursors is shown. Two megaloblasts occupy the center of the slide with a megaloblastic normoblast above. Photo courtesy of Marcel E Conrad, MD.
 
 
 
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