scholarly journals A Case of Subacute Combined Degeneration as a Manifestation of Pernicious Anaemia

EMJ Neurology ◽  
2021 ◽  
pp. 77-80
Author(s):  
Marta Arriaga Rocha ◽  
Martim Trovão Bastos ◽  
Joana Mauríco ◽  
Susana Heitor

Vitamin B12 deficiency affects multiple systems, including the central and peripheral nervous systems, producing a vast spectrum of neurological symptoms. It is particularly important due to its insidious presentation and because it can evolve to spastic paraplegia with permanent sequelae. The authors describe a case of a woman with asthenia, bilateral lower limb weakness, urinary retention, and faecal incontinence, with no structural cause on imaging studies. Blood tests showed anaemia (haemoglobin: 6.8 g/dL) and vitamin B12 deficiency (<100 pg/mL). After upper digestive endoscopy compatible with chronic atrophic gastritis and positive for anti-intrinsic factor antibodies was obtained, the diagnosis of subacute combined degeneration due to vitamin B12 deficiency in the context of pernicious anaemia was admitted. Although this entity is a rare cause of myelopathy, it is a frequent manifestation of vitamin B12 deficiency. Clinical suspicion is fundamental since the reversibility of the neurological lesion is dependent on early treatment.

Pulse ◽  
2014 ◽  
Vol 5 (1) ◽  
pp. 57-60 ◽  
Author(s):  
AA Bhuiyan ◽  
SK Dash ◽  
SMH Shahriar ◽  
F Nahid ◽  
S Arefin

Aim and Objective Vitamin B12 deficiency disease, specially associated with pernicious anaemia is a relatively rare disease in the developing countries. Patients with B12 deficiency may present with hematological, gastro-intestinal and neuro-psychiatric manifestations. Here we discuss a case of a fifty five-year-old lady presented with sub-acute combined degeneration of the spinal cord. Case presentation A fifty five year old female was admitted in Neurology ward in Apollo Hospitals, Dhaka from OPD for progressive quadriparesis with tingling in the hands and feet. She had no associated visual, bulbar symptoms, sphincter incontinence or memory impairment. Investigation revealed mild anaemia, macrocytosis on peripheral blood picture, low Vitamin B12 level with megaloblastic changes in bone marrow examination. Anti-Intrinsic factor antibody and anti-parietal cell antibody was not done, as it is not available here. MRI of dorsal spine shows T2 hyper-intense lesions in the posterior cord. GI Endoscopic biopsy revealed chronic atrophic gastritis. Conclusion We presented this case because of its relatively uncommon occurrence in our country. Sub-acute combined degeneration of spinal cord associated with dietary deficiency is common in Indian sub-continent. High index of suspicion is needed for its early diagnosis as delay in treatment can lead to poor neurological recovery. DOI: http://dx.doi.org/10.3329/pulse.v5i1.20193 Pulse Vol.5 January 2011 p.57-60


2013 ◽  
Vol 2013 (sep29 1) ◽  
pp. bcr2013200380-bcr2013200380 ◽  
Author(s):  
H. B. Gowdappa ◽  
M. Mahesh ◽  
K. V. K. S. N. Murthy ◽  
M. G. Narahari

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Amanda M. Woodford ◽  
Rabhea Chaudhry ◽  
Gabriella A. Conte ◽  
Varsha Gupta ◽  
Madhurima Anne

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.


BJS Open ◽  
2021 ◽  
Vol 5 (Supplement_1) ◽  
Author(s):  
Chaitya Desai ◽  
Beno Machado ◽  
Sanjay Kumar ◽  
Chaitya Desai

Abstract Introduction Not all causes of vitamin B12 deficiency require intramuscular hydroxocobalamin (IMH). NICE guidance states that diet-related deficiency can be treated orally, but pernicious anaemia must be excluded via anti-intrinsic factor antibodies (anti-IFAB). Our aim was to audit the management of B12 deficiency during the COVID-19 pandemic when reducing footfall is vital. Then, implement staff education strategies to improve adherence to guidance. Methods Data for patients who received IMH from March-June 2020 was retrospectively analysed for: full blood count (FBC), B12, folate and anti-IFAB levels. These patients were sent letters to have blood tests for the missing investigations. Results were presented at meetings and flowchart-posters were distributed. Audit was closed with prospective data for patients who requested IMH from September-October 2020. Results From 46 patients identified, 82.6% had B12 and folate checked prior to therapy commencement, but 23.7% had an untreated folate deficiency. 79.3% of patients receiving IMH had never been tested for anti-IFAB; none of those tested were positive. A lack of awareness of the NICE guidance was identified as a key cause for non-adherence. Following the intervention, all 34 patients were appropriately investigated. Out of these, 8.8% had positive anti-IFAB levels and following a review of their clinical histories, all patients were commenced on appropriate therapy. Discussion IMH can have great benefit; but it is invasive, has financial and nursing-time implications, and increases the risk of contagion via footfall in the practice. Thus, this multi-cycle audit shows that appropriate investigations prior to commencing therapy is key.


Author(s):  
Chris Bunch

This chapter addresses the diagnosis, investigation, and management of anaemia due to a deficiency in iron, vitamin B12, or folate. Erythropoiesis requires an adequate supply of iron for haem formation, as well as vitamin B12 and folic acid (folate) to support high levels of DNA synthesis, and a lack of any of these will result in anaemia. Iron-deficient anaemias are typically microcytic, while a deficiency in vitamin B12 or folate results in megaloblastic haemopoiesis and a macrocytic anaemia. Iron deficiency results from poor dietary iron intake, poor absorption, increased demands, blood loss, or combinations of these. The usual cause of severe vitamin B12 deficiency in Western countries is an autoimmune atrophic gastritis, in which there is a loss of gastric parietal cell numbers and an absence of intrinsic factor production, which effectively prevents vitamin B12 absorption. This is the classical pernicious anaemia, and it is often seen in association with other autoimmune disorders. Folate deficiency may result from poor diet, malabsorption, or when demand for folate is increased, for example, during pregnancy, or with increased haemopoiesis in haemolytic anaemias or myeloproliferative disorders.


2021 ◽  
Vol 11 (1) ◽  
pp. 130-137
Author(s):  
Roopesh Kumar Yadav ◽  
Sudhanshu Mishra ◽  
Deepti Jain

Vitamin B12 is a water-soluble vitamin that plays a key role in the brain's proper functioning and nervous system, in blood flow, and in reducing weakness and tiredness. In their food, most people get adequate vitamin B12, but in some health conditions (e.g. inadequate sleep, stomach/intestinal disorders, inflammation, cancer), there could be a shortage. If left unchecked, severe Vitamin B12 deficiency results in anemia and nerve damage. Vitamin B12 deficiency is typically treated using parenteral and oral dosage formulations, but absorption and compliance problems are involved with these routes of administration. Most significantly, the function of this missing intrinsic factor has been shown to assist in vitamin B12 absorption and a deficiency known as pernicious anaemia. Vitamin B12 is only partially absorbed when delivered by mouth to patients with pernicious anemia, but hematologically re-absorbed in patients with pernicious anemia. Parenteral administration of the extrinsic element will treat pernicious anaemia satisfactorily. There are several roles and advantages of vitamin B 12 in the human body with therapeutic effects also. Keywords: Water Soluble Vitamins, Methylcobalamine, Vitamin B12, Pernicious Anaemia.


Author(s):  
Joao Galaz Tavares ◽  
Bernardo Baptista ◽  
Bebiana Gonçalves ◽  
Alexandra Bayão Horta

A 49-year-old female patient presented to our hospital with asthenia, odynophagia, low grade fever, worsening symptoms of chronic depression, and symmetric leg paresthesias. Investigations showed macrocytic anaemia, leucopenia, thrombocytopenia, high lactate dehydrogenase levels and a normal Coombs test. Trilineage dysplasia was detected in the bone marrow biopsy specimen. The diagnostic work-up led us to the diagnosis of pernicious anaemia with a spuriously normal value of vitamin B12 and high titres of anti-intrinsic factor autoantibodies. This case highlights the importance of considering vitamin B12 deficiency in the differential diagnosis of myelodysplasia, even when vitamin B12 levels seem to be normal.


1998 ◽  
Vol 12 (4) ◽  
pp. 215-226 ◽  
Author(s):  
Margaret Wynn ◽  
Arthur Wynn

Vitamin B12 deficiency damages nerve cells and aggravates nervous system disorders even in the absence of evidence of anaemia. Prevalence of B12 deficiency increases with age especially over 65 and is frequently associated with Alzheimer's disease. Recent American surveys record a higher prevalence of B12 deficiency and of undiagnosed and untreated pernicious anaemia in the elderly than reported earlier. B12 deficiency is also reported to be a risk factor for heart disease, stroke and accelerated ageing.


2021 ◽  
Vol 12 ◽  
Author(s):  
Xiaoyan Chen ◽  
Rong Wang ◽  
Xusheng Huang ◽  
Fei Yang ◽  
Shengyuan Yu

Subacute combined degeneration (SCD) is a neurological complication of cobalamin deficiency, which is usually caused by chronic autoimmune atrophic gastritis. Serum pepsinogen 1 and the ratio of pepsinogen 1/pepsinogen 2 (PG1/2) can reflect the severity of gastric atrophy.Objective: This work aims to investigate whether decreased serum PG1 and PG1/2 ratio are helpful in diagnosing SCD and reflecting the severity of SCD.Methods: We retrospectively analyzed the clinical and laboratory tests of 65 cases of SCD due to vitamin B12 deficiency and compared the laboratory parameters of SCD with 65 age- and sex-matched amyotrophic lateral sclerosis (ALS) patients.Results: PG1 and PG1/2 ratio were decreased in 80 and 52.3% of SCD patients, respectively. Compared to patients with PG1/2 ratio ≥3.0, patients with PG1/2 ratio &lt;3.0 had more severe anemia, larger mean corpuscular volume (MCV), lower level of vitamin B12, higher folate and homocysteine (Hcy), more severe changes in somatosensory evoked potential (SEP), and higher rate of lesions in spinal MRI (P &lt; 0.05). PG1 and PG1/2 ratio had inverse correlation with MCV and N20 latency in SEP examination (P &lt; 0.05). PG1/2 ratio, RBC count, and Hcy were independent risk factors for SCD in logistic regression analyses. The ROC curve analysis revealed that the diagnostic accuracy of PG1 and PG1/2 ratio was 72.2 and 73.0%, respectively, while the cutoff values were 22.4 ng/ml and 2.43 for SCD, respectively.Conclusions: Decreased PG1 and PG1/2 ratio are helpful for the diagnosis and evaluation of the severity of SCD due to vitamin B12 deficiency.


1974 ◽  
Vol 47 (6) ◽  
pp. 617-630
Author(s):  
A. Lavoie ◽  
E. Tripp ◽  
A. V. Hoffbrand

1. The uptake of 14C from [methyl-14C]methyItetrahydrofolate was significantly reduced in the phytohaemagglutinin (PHA)-stimulated lymphocytes from nine patients with untreated pernicious anaemia compared with the uptake in seven normal subjects. 2. The uptake of 14C from [14C]methyltetrahydrofolate by the lymphocytes from seven of the patients with pernicious anaemia was consistently increased by addition of vitamin B12in vitro. 3. The proportion of 14C taken up from [14C]methyltetrahydrofolate transferred to non-folate compounds was found to be significantly reduced in the PHA-stimulated lymphocytes from nine patients with untreated pernicious anaemia compared with the proportion transferred in the PHA-stimulated lymphocytes from seven normal subjects. Addition of vitamin B12in vitro consistently increased the transfer in vitamin B12-deficient cells but had no consistent effect in normal cells. 4. Normal and vitamin B12-deficient PHA-stimulated lymphocytes took up [3H]folic acid and after 72 h incubation converted this largely into pteroylpolyglutamate forms. 5. The proportion of labelled lymphocyte folate as pteroylpolyglutamate after incubation with [3H]folic acid was the same in vitamin B12-deficient as in normal lymphocytes and the proportion of pteroylpolyglutamates formed in vitamin B12-deficient lymphocytes was unaffected by addition of vitamin B12in vitro. 6. No radioactivity could be decteted in pteroylpolyglutamates after incubating normal PHA-stimulated lymphocytes with [14C]methyltetrahydrofolate for 72 h, suggesting that pteroylpolyglutamate forms of folate cannot be made directly from methyltetrahydrofolate. 7. These results are consistent with the ‘methyltetrahydrofolate trap’ hypothesis in vitamin B12 deficiency. It is suggested that reduced synthesis of pteroylpolyglutamates reported by others in vitamin B12-deficient cells may be secondary to the failure of removal of the methyl group from methyltetrahydrofolate rather than to a direct effect of vitamin B12 deficiency on the enzyme responsible for pteroylpolyglutamate synthesis. 8. Reduced entry of methyltetrahydrofolate into vitamin B12-deficient cells may be secondary to failure of conversion of this compound into tetrahydrofolate.


Sign in / Sign up

Export Citation Format

Share Document