Vitamin B12 deficiency presenting as pancytopenia and retinopathy in a young

Abstract

Deficiency of vitamin B12 (cobalamin) is a well-known cause of megaloblastic anaemia. It is a reversible cause of bone marrow failure and demyelinating nervous system disorder, hence early detection and prompt treatment of vitamin B12 deficiency is essential. After diagnosing vitamin B12 deficiency, tracking down its root cause is important in individualising the treatment approach. Helicobacter pylorirelated (H. pylori) B12 deficiency presenting as pancytopenia in pediatric age groups has been reported. However, vitamin B12 deficiency presenting as retinopathy in paediatric age groups has been rarely reported in the medical literature. We herein present the case of an adolescent male with pancytopenia and retinopathy, secondary to vitamin B12 deficiency-associated H. pylori infection.

Vitamin B12 Deficiency Presenting as Pancytopenia with Hepatosplenomegaly in an Infant

“…9 Haematological abnormality namely pancytopenia is a less well known manifestation of vitamin B12 deficiency even though vitamin B12 deficiency is a common cause of pancytopenia. 10 The prevalence of pancytopenia and hepatosplenomegaly in vitamin B12 deficiency i s a l s o n o t k n o w n . O u r p a t i e n t h a d hepatosplenomegaly with PBS report showing normocytic, normochromic anaemia with markedly reduced WBC counts and platelet counts, this presentation can be very concerning as it can mimic haematological malignancy.…”

“…1 The most common cause of vitamin B12 deficiency in children is inadequate intake of animal source foods due to dietary restriction or lack of accessibility to food. 2 And several studies have shown poor vitamin B12 status in children of south Asia including Nepal mainly due to inadequate intake. 3,4…”

Bleeding Diathesis: When Do We Suspect Vitamin B12 Deficiency?

“…Platelet response to agonists like adenosine diphosphate (ADP), ristocetin and epinephrine is considerably decreased in vitamin B12 deficiency, which improves with vitamin replacement. There are case reports where vitamin B12 deficiency was associated with pancytopenia 6 . Thrombocytopenia and bleeding diastheses as presenting features in a case of megaloblastic anemia are rare.…”

Extra-Axial Hematoma and Trimethoprim-Sulfamethoxazole Induced Aplastic Anemia: The Role of Hematological Diseases in Subdural and Epidural Hemorrhage

“…Many disorders cause vitamin B12 deficiency, including lack of intrinsic factor production by the parietal cells of the stomach and malabsorption due to bowel resection or inflammatory bowel disease [ 7 ]. Serum B12 levels are used to make the diagnosis of B12 deficiency [ 8 ]. However, serum B12 levels may not be reliable in the setting of myeloproliferative disorders or folate deficiency.…”

“…In our patient, methylmalonic acid level was 235 nmol/L and homocysteine level was 7.7 μ mol/mL, both within normal limits. In both children and adults, vitamin B12 deficiency is associated with pancytopenia, megaloblastic anemia, splenomegaly, and retinopathy [ 8 ]. In the literature, platelet count in patients with B12 deficiency is in the order of 80–100,000, although lower platelet counts have been documented [ 8 ].…”