Presentation Of B12 Deficiency Research Articles

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.

Pancytopenia as a presentation of B12 deficiency

We present the case of a 16-year-old boy with hemolytic anemia with investigations showing pancytopenia, which turned out to be due to B12 deficiency. Whenever we see a teenager presenting with pancytopenia, the common causes that we think of are hematologic malignancies, drug-induced cytopenias, hypersplenism, etc. Anemia as a presentation is common in B12 deficiency, yet its occurrence with jaundice is a very uncommon and easily overlooked presentation. The same is the case of B12 presenting as pancytopenia which is a well-described entity, yet omitted initially due to its uncommon nature in this modern developed world.

Vitamin B12 deficiency presenting as subjective cognitive impairment

Vitamin B12 deficiency presenting as subjective cognitive impairment

Bilateral sixth nerve palsy with subdural hematoma: a unique presentation of B12 deficiency.

Vitamin B12 is inextricably associated with the development and maintenance of neuronal functions. It is classically associated with subacute combined degeneration and peripheral neuropathy; however, cranial neuropathy is uncommon. We observed the rarest neurological manifestation of B12 deficiency. A 12 months infant had history of lethargy, irritability, anorexia, paleness, vomiting, and neurodevelopmental delay for 2 months. He also developed inattention and altered sleep pattern. His mother noticed bilateral inward rotation of both eyes. On examination, the infant had bilateral lateral rectus palsy. The infant was found to have anemia (7.7g/dL) and severe B12 deficiency (74pg/mL). On MRI, there was cerebral atrophy, subdural hematoma (SDH) and wide cisternal spaces and sulci. On supplementation with cobalamin, he improved clinically though mild restriction of lateral gaze on the left side persists. Follow up MRI showed significant improvement in cerebral atrophy with resolution of SDH. To date, such clinical presentation of B12 deficiency has never been reported. The authors suggest B12 supplementation for at risk population esp at antenatal stage and lactating mothers in national programs. The treatment of this condition should be initiated early to prevent long term sequelae.

Vitamin B12 deficiency presenting as infantile meningoencephalitis

Vitamin B12 deficiency presenting as infantile meningoencephalitis

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.

B12 deficiency presenting as sensory neuronopathy

Vitamin B12 deficiency is a common but underdiagnosed condition and has protean manifestations affecting both central and peripheral nervous systems. Sensory ganglionopathy due to vitamin b12 deficiency is a seldom described but easily treatable condition which should be always be a part of the etiological differential diagnoses.

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 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.

Vitamin B12 deficiency presenting as hemolytic anemia

Vitamin B12 deficiency is not an uncommon condition. Commonly patient presents with megaloblastic anemia and pancytopenia. There are reports in the literature of Vitamin B12 deficiency associated with other immunological conditions. We report such a case of Vitamin B12 deficiency associated with hemolytic anemia in a 36-year-old Indian man, who presented with pancytopenia and hemolytic anemia. Workup for other causes of hemolytic anemia was negative, and the patient responded to treatment with Vitamin B12, with resolution of pancytopenia and hemolysis. Clinicians need to be aware of this association as both conditions occur rarely together and unawareness may lead to unnecessary investigation and procedures.

B12 deficiency leading to marked poikilocytosis versus true schistocytosis, a pernicious problem

Severe vitamin B12 deficiency is caused most commonly by autoimmune atrophic gastritis leading to loss of intrinsic factor. Vitamin B12 deficiency leading to megaloblastic anemia and demyelinating central nervous system disease is well known; however, a rare presentation of B12 deficiency described as pseudothrombotic microangiopathy is not well known. This complication presents with signs of mechanical hemolysis, elevated lactate dehydrogenase (LDH), thrombocytopenia, and a low reticulocyte count, which can be incorrectly diagnosed as thrombotic thrombocytopenic purpura and managed incorrectly. Decreased reticulocyte count and an LDH >2500IU/L is more commonly seen in B12 deficiency. However, recognizing the differences in marked poikilocytosis can be challenging, as seen with megaloblastic changes and true schistocytosis. To illustrate the challenge in differentiating between megaloblastic changes and true schistocytosis, we present the case of a 27-year-old woman who presented to her physician for symptomatic anemia and complaints of nausea, vomiting, and loose stool. She had a hemoglobin of 5.1g/dL, platelet count of 39×109/L, LDH of 9915IU/L, haptoglobin below assay limit, and a reticulocyte count of 2.5%. Peripheral smear showed macrocytic anemia, rare hypersegmented neutrophils, and schistocytes. Vitamin B12 level was less than 50pg/mL, methylmalonic acid was 0.33μmol/L, anti-parietal cell antibody was >1:640, and intrinsic factor blocking antibody was positive—confirming the diagnosis of pernicious anemia. While hospitalized, she was treated with vitamin B12 1000μg intramuscular injections daily and thereafter continued with monthly injections, which ultimately resolved her severe macrocytic anemia.

Vitamin B12 deficiency presenting as pancytopenia in a young boy--Helicobacter Pylori, a novel causative agent

Vitamin B12 deficiency presenting as pancytopenia in a young boy--Helicobacter Pylori, a novel causative agent

Vitamine B12 Deficiency Presenting As Severe Pancytopenia in Adult Patients. a Monocentric Study of 104 Cases

▪Vitamin B12 deficiency should be suspected in all patients with unexplained anemia and/or neuropsychiatric symptoms, and special attention should be paid to patients at risk (the elderly, vegetarians, patients with autoimmune thyroiditis or vitiligo, patients receiving proton pump inhibitors or biguanides for prolonged periods). Documented symptomatic pancytopenia related to cobalamin deficiency is very rare representing less than 5% cases in different series. We aim to report an important series of pancytopenia related to cobalamin deficiency to analyze the clinical, biological and outcomes of those patients.Methods :Consecutive patients presented with B12 deficiency and pancytopenia were included. Charts were retrospectively reviewed from an internal medicine department during a period of 15 years (2000-2015). Diagnosis of cobalamine deficiency used the vitamin B12 dosage bellow 200 pg/ml. Assessment included clinical features, blood count and morphological review and a statistical analysis of those parameters comparing pancytopenic and non-pancytopenic patients.ResultsThe medical records of 268 consecutive patients hospitalized for cobalamin deficiency from January 2000 to December 2015 were identified and retrospectively analyzed. Among them, 104 patients had pancytopenia (38.8%). The median age was 55+17 years and the sex ratio : 1. Pancytopenia revealed vitamin B12 deficiency in all cases. Neurological manifestations were associated in 13 cases and digestive involvement in 16 cases. Twenty five patients presented with febrile neutropenia. Fourteen patients (13.4%) presented with "pseudo" thrombotic microangiopathy.The mean hemoglobin level was 58+19 g/L, the neurtophils count was 1188+579/µl and median platelets count was 69.616+34.379/µl. Macrocytosis was present in 80.7% of patient with mean MCV was 106+11 fl, but was normal (<95 fl) in 20 patients. The mean serum vitamine B12 levels was 80+11 pg/ml. The median serum lactate dehydrogenase level was high (3.204 IU/L).The causes of B12 vitamin deficiency were mainly food cobalamin malabsorption (63.4%) and pernicious anemia (28.8%). Correction of the hematological abnormalities was achieved in all patients treated with either intramuscular, subcutaneous or oral cyanocobalamin.Significant differences appears comparing patients with or without pancytopenia. Pancytopenic patients had significantly lower MCV mean (p=0.001), lower polynuclear neutrophils count and lower platelets count. Atrophic gastritis was also significantly associated with pancytopenia (p=0.005). There was no significant difference in mean haemoglobin level (p=0.3), serum cobalamin level (p=0.17). Looking at other variables that could explain the high prevalence of pancytopenia in our series, there were no difference in ferritinemia level or number of patients with of iron deficiency .ConclusionIn this study, based a single institution with a large number of consecutive patients with well-documented cobalamin deficiency, we found a high prevalence (38,8%) of severe pancytopenia. We don't find yet an explanation for those findings. Those results can also remind us that severe vitamin B12 deficiency may present with findings mimicking malign hematologic disorder and timely recognition and supplementation lead to resolution of symptoms and blood abnormalities. DisclosuresNo relevant conflicts of interest to declare.

Reversible Vitamin B12 Deficiency Presenting with Acute Dementia, Paraparesis, and Normal Hemoglobin

Vitamin B12 is essential for neurological function and its deficiency is associated with many neuropsychiatric disorders. We report the case of a previously healthy 53-year-old male patient presenting with delirium and multiple neurological findings. Complete blood analysis indicated megaloblastic anemia. All infectious causes were excluded owing to negative cultures (blood and urine). Tests for human immunodeficiency virus, syphilis, and toxoplasma were also negative. Metabolic workup showed severe vitamin B12 deficiency, decreased reticulocyte count, and increased direct bilirubin and lactate dehydrogenase. Intramuscular injection of cobalamin was started, and the patient showed significant improvement.