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 Table of Contents  
CASE REPORT
Year : 2018  |  Volume : 9  |  Issue : 4  |  Page : 148-150

Persistent diarrhea, hemolytic anemia, and splenohepatomegaly due to Vitamin B12 deficiency in an infant


Department of Pediatrics, JSS Medical College, JSS Academy of Higher Education and Research, Mysore, Karnataka, India

Date of Web Publication4-Feb-2019

Correspondence Address:
Dr. K Jagadish Kumar
Department of Pediatrics, JSS Medical College, JSS University, Mysore, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/joah.joah_36_18

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  Abstract 

Vitamin B12 is essential for DNA and RNA synthesis. Vitamin B12 deficiency usually occurs in infants who are exclusively breastfed born to Vitamin B12-deficient mothers. Even though macrocytic anemia is the classic feature, the spectrum of hematological findings due to Vitamin B12 deficiency ranges from simple macrocytosis to life-threatening hemolytic anemia. Other manifestations of Vitamin B12 deficiency in infants include delay in growth and development, anorexia, diarrhea, sparse hair, failure to thrive, abnormal pigmentation, hypotonia, and enlarged liver and spleen. Herewith, we are presenting a 6-month-old child with growth retardation, persistent diarrhea, anorexia, irritability, anemia, and splenohepatomegaly due to Vitamin B12 deficiency who responded to Vitamin B12 therapy.

Keywords: Diarrhoea, hemolytic anemia, splenohepatomegaly, Vitamin B12 deficiency


How to cite this article:
Kumar K J, Prudhvi S, Balaji K, Rahul R. Persistent diarrhea, hemolytic anemia, and splenohepatomegaly due to Vitamin B12 deficiency in an infant. J Appl Hematol 2018;9:148-50

How to cite this URL:
Kumar K J, Prudhvi S, Balaji K, Rahul R. Persistent diarrhea, hemolytic anemia, and splenohepatomegaly due to Vitamin B12 deficiency in an infant. J Appl Hematol [serial online] 2018 [cited 2019 Apr 22];9:148-50. Available from: http://www.jahjournal.org/text.asp?2018/9/4/148/251485


  Introduction Top


Vitamin B12 and folate are essential for DNA and RNA synthesis, growth, cell proliferation, hematopoiesis, and cognitive function.[1] Macrocytic anemia is the classic presentation of Vitamin B12 deficiency.[2] The spectrum of hematological findings due to Vitamin B12 deficiency can range from simple macrocytosis to life-threatening manifestations like hemolytic anemia.[2],[3] Cobalamin deficiency is common in children with acute diarrhea and is more common in breastfed infants.[1] Out of 823 children presenting with acute diarrhea, 41% of them had low-plasma cobalamin levels.[1] Cobalamin deficiency may interfere with early development and manifest as neurological symptoms and in severe cases, causes brain atrophy.[4] We are reporting a 6-month-old child who presented with growth retardation, persistent diarrhoea, anorexia, irritability, anemia, splenohepatomegaly due to Vitamin B12 deficiency who responded to Vitamin B12 therapy.


  Case Report Top


A 6-month-old male baby presented with loose stools and vomiting for 15 days. There was no history of blood in the stools, fever, or abdominal distension. Child is anorexic and irritable for 15 days. His birth weight is 2.5 kg and developmental milestones are normal. Child is on exclusive breast feeds and weaning not yet started. On the examination of pallor present, weight is 5.6 kg (<3rd centile according to the WHO chart), no pigmentation, or lymphadenopathy. Per abdomen revealed palpable 3-cm liver and 7-cm splenomegaly. Other systems examination was unremarkable. His fundus examination was normal. His urine and stool culture were sterile. Other investigations are shown in [Table 1]. The child was diagnosed with persistent diarrhea, hemolytic anemia with splenohepatomegaly due to Vitamin B12 deficiency. The one-packed cell was given and was started on the tablet mecobalamine 500 mg bd. During the follow-up, his diarrhea subsided, irritability decreased, and appetite increased. Investigations-wise hemoglobin improved, platelets increased, and other parameters are shown in [Table 1]. Mecobalamine was given for 3 months.
Table 1: Investigations

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  Discussion Top


Vitamin B12 deficiency usually occurs in infants who are exclusively breastfed born to Vitamin B12-deficient mothers.[4] They may manifest as delay in the growth and development. Developmental retardation and infantile tremor syndrome among 4–11-month-old infants of vegetarian mothers have reported from India and the United States.[4] Cobalamin deficiency may interfere with early development through disruptions in myelination and dendritic formation or inflammation.[4] A study from Nepal assessed cobalamin and folate status and identified their predictors in 6–35 month-old-children with acute diarrhea. They found that poor cobalamin status was affecting almost one in every second child, which was more common in breastfed than in nonbreast infants.[1] In addition, other manifestations of Vitamin B12 deficiency in infants include anorexia, diarrhea, sparse hair, failure to thrive, abnormal pigmentation, hypotonia, and enlarged liver and spleen.[4] Our child was also exclusively breastfed without complementary feeds presented with anorexia, diarrhoea, growth retardation, failure to thrive, severe anemia, and splenohepatomegaly. Andrès et al. reported 201 Vitamin B12 deficiency patients with hematological findings. Out of these cases, 10% had life-threatening manifestations, which includes symptomatic pancytopenia (5%), pseudo-thrombotic microangiopathy (2.5%), and hemolytic anemia in (1.5%).[5]

The exact mechanisms of hemolysis due to Vitamin B12 deficiency are not entirely understood. Probably, hemolysis may result from intramedullary destruction as well as from pseudo-thrombotic microangiopathy.[6] Cobalamin is essential for the DNA and RNA synthesis and is necessary for the synthesis of red blood cells (RBC). When there is cobalamin deficiency, the RBC membrane rigidity increases and erythrocyte deformability decreases leading to RBC lysis causing hemolytic anemia and elevation of the serum lactate dehydrogenase (LDH) levels.[2] Vitamin B12 deficiency also causes an increase in homocysteine levels, which leads to endothelial dysfunction and results in fragmentation of erythrocytes to schistocytes.[2] Hemolysis may depend on the susceptibility of RBC to hemolysis also. Our child had severe anemia with elevated LDH and occasional schistocytes suggestive of hemolysis. An increased reticulocyte count may be because of good bone marrow response to hemolysis. In our child, in view of marked anemia, thrombocytopenia and massive splenomegaly, the differential diagnosis of beta-thalassemia major/leukemia/malaria was also thought off. During the follow-up, hepatosplenomegaly also decreased to a greater extent by 2 weeks. Belen et al. reported two Vitamin B12 deficiency children with hepatosplenomegaly and high-LDH levels similar to our child. After 1 week, hepatosplenomegaly disappeared in both children.[7] Even though palpable splenomegaly as a common finding in megaloblastic anemia has been reported, the exact prevalence of hepatosplenomegaly in severe Vitamin B12 deficiency is not known.[7] They attributed hepatosplenomegaly to increased extramedullary hematopoiesis compensatory to mild hemolytic anemia due to Vitamin B12 deficiency.[7] Probably, same explanation is applicable in our case.

Thrombocytopenia in cobalamin deficiency is not due to immune mechanisms and the platelet count becomes normal with simple Vitamin B12 therapy-like what has happened in our child.[8] Usually, patients with cobalamin deficiency have increased RDW and can thus be differentiated from macrocytic anemia with normal RDW, such as aplastic anemia.[9] Our baby also had increased RDW.

Demir et al. observed hyperpigmentation was reported in 85.96% of Vitamin B12 deficiency patients.[10] However, there was no pigmentation as a clue in our case.

Replacement with Vitamin B12 usually reverts the related neurological symptoms, and many infants recover fully.[4] In our patient irritability is one of the major symptom, which improved after replacement with Vitamin B12 treatment.


  Conclusion Top


Persistent diarrhea, anorexia, irritability, hemolytic anemia, and splenohepatomegaly are the varied manifestations of Vitamin B12 deficiency in infants. Clinicians must be aware of these features and hence that which can be easily diagnosed at the earliest and treat.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Ulak M, Chandyo RK, Adhikari RK, Sharma PR, Sommerfelt H, Refsum H, et al. Cobalamin and folate status in 6 to 35 months old children presenting with acute diarrhea in Bhaktapur, Nepal. PLoS One 2014;9:e90079.  Back to cited text no. 1
    
2.
Tuten N, Bennett C, Babcock W. Thrombotic thrombocytopenic purpura or cobalamin deficiency? A case report and review. Clin Case Rep Rev 2015;1:157-9.  Back to cited text no. 2
    
3.
Andrès E, Affenberger S, Federici L, Korganow AS. Pseudo-thrombotic microangiopathy related to cobalamin deficiency. Am J Med 2006;119:e3.  Back to cited text no. 3
    
4.
Black MM. Effects of Vitamin B12 and folate deficiency on brain development in children. Food Nutr Bull 2008;29:S126-31.  Back to cited text no. 4
    
5.
Andrès E, Affenberger S, Zimmer J, Vinzio S, Grosu D, Pistol G, et al. Current hematological findings in cobalamin deficiency. A study of 201 consecutive patients with documented cobalamin deficiency. Clin Lab Haematol 2006;28:50-6.  Back to cited text no. 5
    
6.
Mishra VA, Harbada R, Sharma A. Vitamin B12 and Vitamin D deficiencies: An unusual cause of fever, severe hemolytic anemia and thrombocytopenia. J Family Med Prim Care 2015;4:145-8.  Back to cited text no. 6
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7.
Belen B, Hismi BO, Kocak U. Severe Vitamin B12 deficiency with pancytopenia, hepatosplenomegaly and leukoerythroblastosis in two Syrian refugee infants: A challenge to differentiate from acute leukaemia. BMJ Case Rep 2014;2014. pii: bcr2014203742.  Back to cited text no. 7
    
8.
Naqvi SH, Chastain VL, Khalil R. An interesting case of anemia. J Acad Hosp Med 2014;6:4.  Back to cited text no. 8
    
9.
Saxena S, Weiner JM, Carmel R. Red blood cell distribution width in untreated pernicious anemia. Am J Clin Pathol 1988;89:660-3.  Back to cited text no. 9
    
10.
Demir N, Doğan M, Koç A, Kaba S, Bulan K, Ozkol HU, et al. Dermatological findings of Vitamin B12 deficiency and resolving time of these symptoms. Cutan Ocul Toxicol 2014;33:70-3.  Back to cited text no. 10
    



 
 
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