Severe vitamin B<sub>12</sub>deficiency with pancytopenia, hepatosplenomegaly and leukoerythroblastosis in two Syrian refugee infants: a challenge to differentiate from acute leukaemia

Belen, Burcu; Hismi, Burcu; Koçak, Ülker

doi:10.1136/bcr-2014-203742

Cited by 16 publications

(26 citation statements)

References 10 publications

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“…Splenomegaly and/or hepatomegaly have also been reported in cases with severe cobalamin deficiency 8. Hepatosplenomegaly in these patients may be attributed to increased extramedullary haematopoiesis compensatory to haemolytic anaemia complicating nutritional cobalamin deficiency.…”

Section: Discussionmentioning

confidence: 97%

Severe vitamin B₁₂deficiency in a 15-year-old boy: presentation with haemolysis and pancytopenia

Keskin

Keskin²

2015

BMJ Case Reports

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SUMMARYA 15-year-old boy on a vegetarian diet presented with severe macrocytic anaemia (haemoglobin, 5.1 g/dL; mean corpuscular volume, 116 fL) in addition to leucopenia and thrombocytopaenia ( pancytopenia), icterus secondary to haemolysis and splenomegaly. Laboratory investigations revealed severe vitamin B 12 (cobalamin) deficiency. Following cobalamin replacement therapy, the patient reported increased well-being, including appetite and weight gain, and his icterus resolved. In the follow-up laboratory examinations, leucocyte and platelet counts in addition to serum bilirubin and lactate dehydrogenase levels normalised. At the end of 2 months, laboratory findings, including haemoglobin level, were all within the normal range. We present this case as a reminder that severe vitamin B 12 deficiency may present with findings mimicking acute leukaemia ( pancytopenia and splenomegaly) and findings suggestive of pseudothrombotic microangiopathy. BACKGROUND

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Section: Discussionmentioning

confidence: 97%

Severe vitamin B₁₂deficiency in a 15-year-old boy: presentation with haemolysis and pancytopenia

Keskin

Keskin²

2015

BMJ Case Reports

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“…Hepatosplenomegaly could be due to extramedullary erythropoiesis. 9 AAC is an inflammation of gall bladder, which does not appear to be associated with the presence of gallstones. AAC is estimated to represent 50% to 70% of all cases of acute cholecystitis in children.…”

Section: Discussionmentioning

confidence: 99%

Acute acalculous cholecystitis: an unusual presentation of vitamin B12 deficiency

Barot¹,

Barot²,

Patil³

et al. 2021

Int J Contemp Pediatr

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Paediatric cases of acute acalculous cholecystitis (AAC) are due to infectious diseases or immune mediated disorders. Hereby, we present a case of 6 months old infant who presented with excessive crying with irritability and tenderness over right hypochondrium region with a palpable liver. Investigations revealed AAC and anaemia. In the work-up of anaemia, vitamin B12 deficiency was diagnosed and after giving treatment with vitamin B12, anaemia resolved as well as AAC. Through this case report we intent to emphasize the possibility of vitamin B12 deficiency presenting as AAC.

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“…Both may share pancytopenia, leukoerythroblastosis, anisocytosis, macrocytosis, fragmentation, left shift, and nucleated erythrocytes on the PBS. 64,65 Furthermore, it will make diagnosis more challenging if patients present with opportunistic infections and severe neurologic complications. 66,67 Neutrophil hypersegmentation has not been consistent finding in the literature while it is a hallmark of CD.…”

Section: Pa Presenting With Pseudo-leukemia Mimic Syndromementioning

confidence: 99%

“…66,67 Neutrophil hypersegmentation has not been consistent finding in the literature while it is a hallmark of CD. 45,65,66 Other laboratory markers such as high serum LDH and hyperbilirubinemia may overlap between CD and acute leukemia attributable to ineffective erythropoiesis. 65 The BM morphological appearances of ineffective hematopoiesis in patients with PA may be variable and overlapping with BM changes in primary myeloid disorders.…”

Section: Pa Presenting With Pseudo-leukemia Mimic Syndromementioning

confidence: 99%

“…45,65,66 Other laboratory markers such as high serum LDH and hyperbilirubinemia may overlap between CD and acute leukemia attributable to ineffective erythropoiesis. 65 The BM morphological appearances of ineffective hematopoiesis in patients with PA may be variable and overlapping with BM changes in primary myeloid disorders. Some of the overlapping BM changes include hypercellularity with an increased myeloid-erythroid ratio, and arrested maturation of myeloid precursors at various stages.…”

Section: Pa Presenting With Pseudo-leukemia Mimic Syndromementioning

confidence: 99%

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Pernicious anemia: Pathophysiology and diagnostic difficulties

Htut

Thein

2021

J Evidence Based Medicine

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Pernicious anemia (PA) is the most common cause of vitamin B12 (cobalamin) deficiency anemia in the world. It is an autoimmune disease, comprising of salient features of autoimmune chronic atrophic gastritis (CAG) and cobalamin deficiency (CD).Although the anemia was first described as pernicious, it may well be controlled with vitamin B12 replacement. The onset and progression of PA is often insidious. Alternatively, patients may have no anemic symptoms since they become acclimatized to the subtle nature of the disease. Oftentimes, there is a possibility that the underlying disease may be missed unless a full blood count (FBC) is investigated, leading to hindrance in the treatment journey. Diagnostic challenges remain tangible for many practicing clinicians, since there is lack of reliable cobalamin assays to diagnose CD as well as clinical mimics, which simulate many other hematological conditions, such as myelodysplastic syndrome, acute leukemia, sideroblastic anemias, bone marrow failure states, thrombotic microangiopathy, and thromboembolism. Moreover, prompt recognition of the symptoms of CD is also vital, because some neurologic sequalae may become irreversible despite replenishing cobalamin. Herein, we discuss a literature review on the pathophysiology, challenging clinical presentations and diagnostic difficulties of PA.Since the cobalamin replacement therapy for PA is straightforward, it will not be discussed in this review.

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Severe vitamin B₁₂deficiency with pancytopenia, hepatosplenomegaly and leukoerythroblastosis in two Syrian refugee infants: a challenge to differentiate from acute leukaemia

Cited by 16 publications

References 10 publications

Severe vitamin B₁₂deficiency in a 15-year-old boy: presentation with haemolysis and pancytopenia

Severe vitamin B₁₂deficiency in a 15-year-old boy: presentation with haemolysis and pancytopenia

Acute acalculous cholecystitis: an unusual presentation of vitamin B12 deficiency

Pernicious anemia: Pathophysiology and diagnostic difficulties

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Severe vitamin B12deficiency with pancytopenia, hepatosplenomegaly and leukoerythroblastosis in two Syrian refugee infants: a challenge to differentiate from acute leukaemia

Cited by 16 publications

References 10 publications

Severe vitamin B12deficiency in a 15-year-old boy: presentation with haemolysis and pancytopenia

Severe vitamin B12deficiency in a 15-year-old boy: presentation with haemolysis and pancytopenia

Acute acalculous cholecystitis: an unusual presentation of vitamin B12 deficiency

Pernicious anemia: Pathophysiology and diagnostic difficulties

Contact Info

Product

Resources

About

Severe vitamin B₁₂deficiency with pancytopenia, hepatosplenomegaly and leukoerythroblastosis in two Syrian refugee infants: a challenge to differentiate from acute leukaemia

Severe vitamin B₁₂deficiency in a 15-year-old boy: presentation with haemolysis and pancytopenia

Severe vitamin B₁₂deficiency in a 15-year-old boy: presentation with haemolysis and pancytopenia