Pediatric Megaloblastic Anemia Differential Diagnoses
- Author: James L Harper, MD; Chief Editor: Max J Coppes, MD, PhD, MBA more...
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
- Myeloproliferative disorders
- Tapeworm infection (cestodiasis)
- Imerslund-Grasbeck disease
- Thiamine-responsive megaloblastic anemia[1, 2]
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].
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].
Whitehead VM. Acquired and inherited disorders of cobalamin and folate in children. Br J Haematol. 2006 Jul. 134(2):125-36. [Medline].
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].
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].
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].
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].
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].
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].
Ozkale M, Sipahi T. Hematologic and Bone Marrow Changes in Children with Protein-Energy Malnutrition. Pediatr Hematol Oncol. 2013 Aug 29. [Medline].
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].
Baumgartner MR. Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E. Handb Clin Neurol. 2013. 113:1799-810. [Medline].
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].