Presentation Of Vitamin B12 Deficiency Research Articles

Psychiatric Presentation of a Severe Vitamin B12 Deficiency Associated with Biermer’s Disease: A Case Report

Psychiatric Presentation of a Severe Vitamin B12 Deficiency Associated with Biermer’s Disease: A Case Report

Adult Vitamin B12 Deficiency-Associated Pseudo-Thrombotic Microangiopathy: A Systematic Review of Case Reports.

Cobalamin-deficient thrombotic microangiopathy or vitamin B12 deficiency presenting as pseudo-thrombotic microangiopathy is a rare disorder that can be misdiagnosed as thrombotic thrombocytopenic purpura. Patients with this condition are at risk of receiving unnecessary plasmapheresis with a potential delay in appropriate therapy with vitamin B12 supplementation. There are no established diagnostic criteria for this condition in clinical practice. We performed a systematic review of case reports published between January 2018 and January 2023 to analyze the clinical characteristics, risk factors, and patterns of laboratory markers to improve the diagnostic criteria for this condition.

A nutritional Vitamin B12 deficiency (infantile tremor syndrome) presenting as hemiconvulsion hemiplegia epilepsy syndrome

Hemiplegia Hemiconvulsion Epilepsy syndrome (HHE syndrome) is a condition characterized by the acute onset of unilateral seizures, which progress to cortical atrophy, hemiplegia and later develop epilepsy over weeks to years. Various aetiologies include infectious causes, especially meningitis, encephalitis, trauma, vascular insults, and sometimes idiopathic. Here, we present a 13-month-old female child, first in birth order, born to a non-consanguineous marriage, who presented with mild global developmental delay with acute onset right focal seizures followed by right-sided weakness and drug-resistant epilepsy. The child was found to have clinical and biochemical features of vitamin B12 deficiency with right-sided weakness. MRI of the brain initially showed edema of the left cerebral hemisphere and later atrophy on the left side. The electroencephalogram showed low voltage activity over the left cerebral hemisphere. Post-treatment with cobalamin, improvement in development was noted, with partial improvement in weakness and persistent epilepsy. In the current report, we highlight Hemiplegia Hemiconvulsion Epilepsy (HHE) syndrome on the background of nutritional vitamin B12 deficiency.

Vitamin B12 deficiency presenting as subjective cognitive impairment

Vitamin B12 deficiency presenting as subjective cognitive impairment

Two unusual presentations of vitamin B12 Deficiency.

Vitamin B12, a water-soluble vitamin is important in DNA synthesis. Inadequate intake of animal foods and pernicious anaemia (loss of intrinsic factor due to autoimmune atrophic gastritis) are known to be the most common causes of severe deficiency worldwide (1).
 Although most of the patients with deficiency have only mild haematological findings, very few presents present with symptomatic pancytopenia, severe anaemia (haemaglobin

Vitamin B12 deficiency presenting as infantile meningoencephalitis

Vitamin B12 deficiency presenting as infantile meningoencephalitis

An Atypical Presentation of Vitamin B12 Deficiency with Hemolytic Anemia

Vitamin B12 deficiency is a common nutritional deficiency in both developed and developing countries. This water-soluble vitamin is synthesized by bacteria and archaea and plays a major role in DNA synthesis and effective hematopoiesis. Most common etiologies of B12 deficiency include pernicious anemia and dietary deficiency. Hematological manifestations including anemia, leukopenia, thrombocytopenia, and macrocytosis can commonly be seen with vitamin B12 deficiency. Vitamin B12 deficiency is a rare cause of hemolytic anemia with approximately 1.5% of cases. Hemolysis with vitamin B12 deficiency remains a rare entity that has not been well described in the literature. Here we present a case of a 49-year-old male presenting with presyncope and fatigue who was found to have hemolytic anemia secondary to severe vitamin B12 deficiency with clinical improvement after vitamin supplementation therapy and provide a brief review of literature.

Chronic Diarrhoea: A Rare Presentation Of Vitamin B12 Deficiency Anemia In Children

Vitamin B12 deficiency in children often under reported and usually presents with nonspecific manifestations like neuropsychiatric symptoms, anaemia, glossitis and chronic diarrhoea. Vegetarianism, minimal intake of animal products, poverty and malnutrition may lead to vitamin B12 deficiency. Laboratory reports often show pancytopenia, megaloblasts in bone marrow and low serum cynocobalamine. Injectable vitamin B12 is the treatment of choice. We would like to highlight this case report in view of vitamin B12 deficiency presenting as diarrhoea.

Chronic Atrophic Gastritis Presenting as Hemolytic Anemia due to Severe Vitamin B12 Deficiency

Vitamin B12 is an essential nutrient which plays an important role in neurological function, hematopoiesis, and DNA synthesis. Low levels usually stem from either poor intake or a malabsorptive process. Presently, the most common cause of vitamin B12 deficiency is food-bound cobalamin malabsorption, which occurs when there is impaired release of vitamin B12 from ingested food due to an outstanding factor preventing the release of the nutrient from its transport protein. Such causes include achlorhydria, gastritis, gastrectomy, or the use of PPIs or antacids. A rarer cause is autoimmune chronic atrophic gastritis, resulting in pernicious anemia. In this disease process, there is destruction of parietal cells and thus a reduction in intrinsic factor, which is essential to the absorption of vitamin B12. Deficiency will result in a variety of abnormalities including but not limited to pancytopenia, paresthesias, and neuropsychiatric symptoms. A rare manifestation of vitamin B12 deficiency is hemolytic anemia, which occurs due to intramedullary and extramedullary dysfunction. This case describes a 46-year-old male with no past medical history who presented with chest pain, fatigue, and progressive weakness, found to have hemolytic anemia, ultimately attributed to vitamin B12 deficiency. Antiparietal cell antibodies and intrinsic factor antibodies (IFA) were both negative. Still, the patient underwent an endoscopy with biopsies of the stomach; pathology was consistent with chronic metaplastic atrophic gastritis. The patient improved with intramuscular vitamin B12 supplementation. This case highlights both a rare cause and presentation of vitamin B12 deficiency. Patients with autoimmune chronic atrophic gastritis should have antiparietal cell or intrinsic factor antibodies. Still, seronegative patients have been reported, like this patient. Additionally, hemolytic anemia secondary to vitamin B12 deficiency is uncommon. The presentation will usually mirror that of a thrombotic microangiopathy (TMA), including hemolytic anemia with schistocytes on peripheral blood smear and thrombocytopenia, as it did in this patient. This clinical entity is described as pseudothrombotic microangiopathy and is crucial to identify in order to prevent the initiation of invasive treatment strategies such as plasmapheresis.

Acute acalculous cholecystitis: an unusual presentation of vitamin B12 deficiency

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.

Vitamin B12 Deficiency in Eastern India: A Hospital Based Cross-sectional Study

Introduction: The prevalence of vitamin B12 deficiency is common (around 40%) in people older than 65 years of age and in people who are strict vegetarians. The major sources of Viamin B12 are meat, fish, dairy products and fortified cereals. Aim: To study the prevalence and common types of presentations of vitamin B12 deficiency among 20-80 years aged, non-vegetarian people attending a tertiary care hospital in a state of Eastern India. Materials and Methods: This hospital based cross-sectional study was conducted at IPGME&R and SSKM Hospital between July 2018 to December 2019. Serum samples were collected from 478 adult patients presenting with different symptoms like pallor, fatigue, numbness and tingling sensation in limbs, memory loss, alopecia etc., which may be related to vitamin B12 deficiency. These samples were screened for serum vitamin B12 level by chemiluminescence method in ADVIA, Centaur CP (SIEMENS). Data were analysed statistically by graph pad prism 8 software. Significance of the difference between means were detected using Student’s unpaired t-test and calculating the p-value (p-value <0.05 were considered as significant). Results: Among 184 females, 50 (27.17%) were found to be Vitamin B12 deficient (VBD). Among them, 18 (36%) had mild deficiency (serum vitamin B12 level 201-220 pmol/L), 22 (44%) had moderate (serum vitamin B12 level 150-200 pmol/L) and 10 (20%) had severe deficiency (serum vitamin B12 level <150 pmol/L). A total of 35 (70%) of the VBD females were of <50 years of age. Among 294 males, 83 (28.23%) were found to be VBD. Among them, 34 (41%) had mild deficiency (serum vitamin B12 level 201-220 pmol/L), 36 (43%) had moderate (serum vitamin B12 level 150-200 pmol/L) and 13 (16%) had severe deficiency (serum vitamin B12 level <150 pmol/L). Total 43 (51.8%) of VBD male persons were of <50 years age. Among VBD female patients, 24 (48%) had neuropathy and among VBD male patients, 54 (65%) had neuropathy. Conclusion: So, it can be concluded that if regular screening is done for serum vitamin B12 in symptomatic patients irrespective of age, a number of problems can be reduced or cured by diagnosing VBD patients and treating them with vitamin B12 either by dietary modification or medicinal supplementation.

Vitamin B12 Deficiency Presenting as Pancytopenia with Hepatosplenomegaly in an Infant

Deficiency of vitamin B12 due to nutritional insufficiency is common in developing part of world. Serum vitamin B12 level in infants is determined by the foetal storage during pregnancy. Therefore, evaluation on vitamin B12 level during pregnancy is essential for prevention of vitamin B12 deficiency in infancy. Here we report a vitamin B12 deficient infant who presented with hepatosplenomegaly with pancytopenia including normocytic anaemia and circulating atypical cells. It is also a reminder to clinicians about the uncommon manifestation of vitamin B12 deficiency which mimics haematological malignancy.

Unusual presentation of vitamin B12 deficiency in a 3 month old infant: presentation with hemolysis and thrombocytopenia

A 3 month old infant exclusively breast fed presented with vomiting and poor weight gain with purpuric and echymotic patches all over the body. The child also had hyperpigmentation over knuckles and icterus. Laboratory investigations revealed severe dimorphic anemia with thrombocytopenia, elevated bilirubin and LDH levels and severe vitamin B12 deficiency. Following vitamin B12 supplementation there was improvement in well-being including feed tolerance, icterus resolved and in follow up lab studies there was improvement in hemoglobin and platelet counts along with reduced bilirubin levels. Through this case report we want to emphasize the possibility of vitamin B12 deficiency presenting as hemolytic anemia and psuedothrombotic microangiopathy.

Vitamin B12 deficiency presenting as acute febrile encephalopathy and retinopathy

Vitamin B12 deficiency causes macrocytic anaemia, peripheral neuropathy, myelin loss in posterior and lateral columns of spinal cord (subacute combined degeneration of cord) and a wide variety of neuropsychiatric symptoms...

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Vitamin B12 deficiency presenting with unsteady gait: a case report and review of literature

Background: Vitamin b12 deficiency is associated with wide spectrum of neurological manifestations Case Presentation: We are reporting a case of 63 years old male presented with history of unsteady gait and was found to have severely low level of vitamin B12, Total resolution of the symptoms occurred following parenteral vitamin B12 replacement therapy. Conclusion: This case report highlights one of the neurological presentations of vitamin B12 deficiency in a previously healthy individual.

Vitamin B12 deficiency presenting as pseudo-thrombotic microangiopathy: a case report and literature review.

Pseudo-thrombotic microangiopathy (pseudo-TMA) is a recognized, yet uncommon, clinical presentation of vitamin B12 deficiency. Patients with pseudo-TMA present with microangiopathic hemolytic anemia (MAHA), thrombocytopenia and schistocytes. They are often misdiagnosed as thrombotic thrombocytopenia purpura (TTP) and receive unnecessary therapy. Here, we report a case of a 60-year-old male who presented with thrombocytopenia and normocytic normochromic anemia. Anemia work-up was remarkable for severe B12 deficiency (<60 pg/mL) and a positive non-immune hemolysis panel. Peripheral smear was reviewed and showed anisocytes, poikilocytes, schistocytes and hypersegmented neutrophils. Vitamin B12 replacement (1000 mcg IM daily) was started, ADAMTS13 activity was sent and daily plasmapheresis was initiated. Over the next 3 days, the patient’s hemoglobin and platelets were stable and the hemolysis panel showed gradual improvement. On day 4, ADAMTS13 activity results came back normal at 61%. Accordingly, plasmapheresis was discontinued, parenteral B12 replacement was continued and that resulted in gradual improvement and eventually cessation of hemolysis and normalization of hemoglobin and platelets. In this patient, parietal cell autoantibodies were positive and so the diagnosis of pernicious anemia was made. Patients with severe vitamin B12 deficiency may present with features mimicking TTP such as MAHA, thrombocytopenia and schistocytosis. An early and accurate diagnosis of pseudo-TMA has a critical clinical impact with respect to administering the correct treatment with vitamin B12 replacement and avoiding, or shortening the duration of, unnecessary therapy with plasmapheresis.

An uncommon presentation of hyperhomocysteinemia and vitamin B12 deficiency: a case report

IntroductionCerebral venous thrombosis is relatively rare and characterized by a wide spectrum of clinical features. It is more common in young adults with women affected more than men. The diagnosis of cerebral venous thrombosis is easier nowadays due to easy access to advanced neuroimaging techniques. Abnormalities in thrombophilic profile are associated with enhanced risk of cerebral venous thrombosis. It has varied etiologies such as hypercoagulable states, infection, dehydration, pregnancy, and substance abuse. Hyperhomocysteinemia is found to be closely associated with an enhanced risk of cerebral venous thrombosis.Case presentationHere we report a case of cerebral venous thrombosis secondary to hyperhomocysteinemia caused by vitamin B12 deficiency in a 32-year-old Indo-Aryan man. A detailed coagulation workup led us to find the etiology of cerebral venous thrombosis in this patient who followed a strict vegetarian diet and had vitamin B12 deficiency leading to hyperhomocysteinemia.ConclusionThere are conflicting reports in the literature about the association of hyperhomocysteinemia, B12 deficiency, and cerebral venous thrombosis but some reports point to a significant association. We conclude that further studies with a large sample size are required to analyze the effect of hyperhomocysteinemia and low vitamin B12 on the risk of cerebral venous thrombosis.

Mucocutaneous hyperpigmentation as presentation of vitamin B12 deficiency: A case report and brief review

Mucocutaneous hyperpigmentation as presentation of vitamin B12 deficiency: A case report and brief review

Measurement of Vitamin B12 and Serum Methylmalonic Acid Levels: Role of Stepwise Cascade Testing in Diagnosing Vitamin B12 Deficiency

Abstract Introduction Varied presentations of vitamin B12 (B12) deficiency include hematologic (megaloblastic anemia) and neurologic (myelopathy, peripheral neuropathy). Delayed recognition and treatment may have serious consequences. Assessing B12 status can be challenging due to diverse laboratory assays and thresholds, resulting in a wide range of reported prevalence of B12 deficiency from 3-26%. Comorbidities may also spuriously elevate or suppress B12 levels. Methylmalonic acid (MMA) level, often used as a companion test to assess for B12 deficiency, may also be affected by differing laboratory thresholds and other medical comorbidities, such as renal dysfunction. Our institutional approach to B12 assessment, termed the pernicious anemia (PA) cascade, consists of reflexive testing to 1) document low B12 stores (B12 levels with or without MMA), and 2) diagnose pernicious anemia (intrinsic factor binding antibody [IFBA] with or without gastrin assay). In this study, our objectives were: (1) assess the usefulness of our B12 testing algorithm and associated laboratory thresholds for identifying B12 deficiency, and (2) evaluate clinical follow-up of test results as part of a quality project. Methods In this retrospective study, adult (age ≥18 years) inpatients who had B12 testing from 2007 to 2013 were identified. Medical records for those patients with B12 levels 150-400 ng/L were reviewed. Data abstracted included patient demographics, indication for B12 testing, B12 levels, results for MMA, IFBA, gastrin, serum creatinine, complete blood count, and clinical outpatient follow-up. The PA cascade algorithm is as follows: 1) for B12 &lt;150 ng/L, IFBA is performed; 2) if IFBA is negative or indeterminate, then gastrin is performed; 3) for B12 150-400 ng/L, MMA is performed; 4) if MMA is &gt;0.40 nmol/mL, then IFBA is performed. Reference range for B12 is 180-914 ng/L. Patients were determined to be B12 deficient if B12 level was &lt;180 ng/L, or if B12 was 150-400 ng/L with elevated MMA and macrocytosis in the absence of significant renal dysfunction, defined as serum creatinine ≥2.0 mg/dL. Results Records of 326 patients (150 female) were reviewed. Indications for B12 testing were: hematologic, 175 patients (53.7%); neurologic, 127 patients (39.0 %), psychiatric, 18 patients (5.5%); other, 4 patients (1.2%). Fifty-nine of 326 (18.1%) patients were B12 deficient, of whom 17 of 59 (28.8%) had PA. There were 54 cases of elevated MMA, &gt;0.40 nmol/mL, of which 30 cases had mildly elevated MMA, &gt;0.40 nmol/mL and ≤0.60 nmol/mL, considered to be the MMA "gray zone". Thirty-two of the total 326 patients had serum creatinine ≥2.0 mg/dL, of which 23 patients also had elevated MMA. Elevated MMA in 13 of these 23 patients was more likely due to renal dysfunction than to B12 deficiency. B12 testing results were not mentioned in hospital discharge summaries for 173 patients, including 8 patients with B12 deficiency. For 22 B12-deficient patients, there was no documentation of B12 replacement. Conclusions The PA cascade detected B12 deficiency in a significant number of inpatients with low-normal B12 levels that might have otherwise been missed; 28.8% of this group had PA for whom long-term B12 replacement is indicated. As treatment for B12 deficiency is inexpensive, non-toxic, and non-invasive, it is reasonable to evaluate B12 status by cascade testing which may provide additional diagnostic data beyond B12 level. Notable clinical practice findings from this study include the lack of B12 results in 173 of 326 discharge summaries, and no record of B12 supplementation in 22 of 59 patients with B12 deficiency. These gaps in documentation and follow-up may be associated with the relatively long turnaround time of MMA testing. Efforts at improving documentation, communication, and treatment of B12 deficiency are ongoing. Disclosures No relevant conflicts of interest to declare.