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Pediatric Megaloblastic Anemia Differential Diagnoses

  • Author: James L Harper, MD; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
 
Updated: Oct 14, 2015
 
 

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

 
 
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; 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.

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.

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, Children's Oncology Group, American Society of Clinical Oncology, International Society for Experimental Hematology, American Society of Hematology, American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Chief Editor

Max J Coppes, MD, PhD, MBA Executive Vice President, Chief Medical and Academic Officer, Renown Heath

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

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
  1. Lorber A, Gazit AZ, Khoury A, Schwartz Y, Mandel H. Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome. Pediatr Cardiol. 2003 Sep-Oct. 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. 2007 Aug. 8(4):239-41. [Medline].

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

  4. Duma A, Cartmill C, Blood J, Sharma A, Kharasch ED, Nagele P. The hematological effects of nitrous oxide anesthesia in pediatric patients. Anesth Analg. 2015 Jun. 120 (6):1325-30. [Medline].

  5. 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. 2004 Apr. 163(4-5):196-201. [Medline].

  6. 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. 2008 Jun. 29(2 Suppl):S101-11; discussion S112-5. [Medline].

  7. 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].

  8. Pawlak R, Parrott SJ, Raj S, Cullum-Dugan D, Lucus D. How prevalent is vitamin B(12) deficiency among vegetarians?. Nutr Rev. 2013 Feb. 71(2):110-7. [Medline].

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

  10. Ozkale M, Sipahi T. Hematologic and Bone Marrow Changes in Children with Protein-Energy Malnutrition. Pediatr Hematol Oncol. 2013 Aug 29. [Medline].

  11. 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. 1999 Aug. 29(2):227-30. [Medline].

  12. Baumgartner MR. Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E. Handb Clin Neurol. 2013. 113:1799-810. [Medline].

  13. Trakadis YJ, Alfares A, Bodamer OA, et al. Update on transcobalamin deficiency: clinical presentation, treatment and outcome. J Inherit Metab Dis. 2014 May. 37 (3):461-73. [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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