vitamin-b-12 and Pancytopenia

Topics: Child, Preschool; Female; Follow-Up Studies; Humans; Pancytopenia; Risk Assessment; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency

Pernicious anemia and Vitamin B12 deficiency have a wide range of symptoms and are a common finding in the elderly. A 73 year old female is admitted to the hospital because of dyspnea, fatigue and loss of appetite and weight. While previous medical history and physical examination are inconspicuous, laboratory findings show severe pancytopenia with macrocytosis, low reticulocyte count and marked signs of hemolysis. A very low serum level of vitamin B12 and chronic atrophic type A gastritis upon endoscopy with presence of parietal cell antibodies in the serum lead to the diagnosis of pernicious anemia. Complete restitution is achieved by parenteral vitamin B12 substitution. Nowadays, severe pernicious anemia is only rarely seen. The differential diagnosis of pancytopenia (with macrocytic anemia) combined with hemolysis and the essential hints to the diagnosis of pernicious anemia are discussed, and thereby practical aspects including therapy actualized.

Topics: Age Factors; Aged; Anemia, Macrocytic; Anemia, Pernicious; Diagnosis, Differential; Female; Folic Acid; Gastritis, Atrophic; Hemolysis; Humans; L-Lactate Dehydrogenase; Pancytopenia; Vitamin B 12

Vitamin B12, or cobalamin deficiency, an infrequent clinical entity in pediatric age, is found almost solely in breastfed infants whose mothers are purely vegetarian, non-supplemented or with pernicious anemia. Megaloblastic anemia in infants presents with generalized weakness or irritability.. Diagnosis is usually centered on complete blood count, vitamin dosing, and peripheral smear, which may show macrocytes, hypersegmented neutrophils, reticulocytopenia and a raised mean corpuscular volume (MCV ˃ 100 fL). Pancytopenia has also been noted.. We report an exclusive breastfed nine-month-old female child who presented with irritability, developmental delay, and difficulties in introducing new foods. Her initial blood count revealed pancytopenia. Vitamin B12 levels were found to be reduced. Maternal levels of Vitamin B12 were also found to be borderline low. The child was treated as per protocols, and improvement was evidenced with the return of hematological parameters to the regular and gradual advancement of milestones.. We aim to underscore the importance of megaloblastic anemia as an important and rare cause of anemia in infancy.

Topics: Anemia, Megaloblastic; Anemia, Pernicious; Child; Female; Humans; Infant; Pancytopenia; Vitamin B 12; Vitamin B 12 Deficiency

Imerslund-Gräsbeck syndrome is an autosomal recessive disorder of vitamin B12 malabsorption presenting with megaloblastic anemia and mild proteinuria in childhood. The disorder is caused by biallelic pathogenic variants in the CUBN or AMN genes, which encode proteins involved in B12 absorption. We present the case of a 17-month-old boy with failure to thrive, pancytopenia, and fevers. His megaloblastic anemia was overlooked leading to unnecessary invasive testing. Findings on bone marrow biopsy prompted investigation for genetic disorders of B12 metabolism. Exome sequencing uncovered 1 known pathogenic variant and 1 novel likely pathogenic variant in CUBN, confirming the diagnosis of Imerslund-Gräsbeck syndrome.

Topics: Anemia, Megaloblastic; Female; Humans; Infant; Malabsorption Syndromes; Male; Pancytopenia; Proteinuria; Vitamin B 12; Vitamin B 12 Deficiency

Vitamin B12 deficiency in children can cause megaloblastic anemia, poor growth, and increased chances of infections. It is an important reversible cause of bone marrow suppression which at the time of presentation can mimic hematological malignancy. Therefore, it should be considered as a differential diagnosis in cases suspected of acute leukemia. We report a case of 14 months old child who had atypical presentation of vitamin B12 deficiency. He had chronic fever, decreased feeding and increased paleness for one year. Pancytopenia with severe anemia was present along with 19% reactive/atypical cells in peripheral blood smear suggesting acute leukemia. However, bone marrow aspiration and biopsy showed features of megaloblastic anemia. Vitamin B12 level measured was very low and treatment with cyanocobalamin caused drastic improvement in the child's condition.

Topics: Anemia, Megaloblastic; Humans; Infant; Leukemia; Male; Pancytopenia; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Aged; Anemia, Pernicious; Bilirubin; Blood Transfusion; Female; Ferritins; Folic Acid; Gastritis, Atrophic; Humans; L-Lactate Dehydrogenase; Pancytopenia; Parietal Cells, Gastric; Severity of Illness Index; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B Complex

Megaloblastic anaemia due to vitamin B12 and folic acid deficiency is uncommon in infancy and rarely reported in infants below 3 months of age. We hereby report a case of megaloblastic anaemia in a 9-weeks old infant having fever from 7th week of life. Blood picture showed pancytopenia and diagnosis was confirmed on bone marrow biopsy and serum level of vitamins. Patient positively responded to vitamin B12 and folic acid supplementation. Infants with pancytopenia even younger than 2 months, should also be investigated for vitamin B12 and folate deficiency. Mother of the baby was not antenatally investigated for anaemia. Prompt antenatal diagnosis and treatment of mothers can reduce the incidence in the infants.

Topics: Anemia, Megaloblastic; Bone Marrow; Diagnosis, Differential; Early Diagnosis; Early Medical Intervention; Failure to Thrive; Folic Acid; Folic Acid Deficiency; Humans; Infant; Male; Pancytopenia; Prenatal Care; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency; Vitamins

Vitamin B

Topics: Adult; Diagnosis, Differential; Diet, Vegetarian; Fever; Humans; Hypotension; Male; Pancytopenia; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B Complex

Vitamin B12 (B12) deficiency in infancy can present with nonspecific symptoms. We report a 5-month old exclusively breastfed full-term infant with emesis, lethargy, progressive pancytopenia, hemolysis, hypofibrinogenemia, elevated lactate dehydrogenase and a hypercellular bone marrow with dyserythropoiesis. The B12 level in the serum was undetectable. The infant's lethargy resolved within 48 hours of intramuscular B12 injection, followed by rapid improvement of pancytopenia. The asymptomatic mother had a normal hemoglobin and mean corpuscular volume, but undetectable B12 level and positive antibodies to intrinsic factor, consistent with pernicious anemia masked by folate supplementation in the mother but causing symptoms in her infant.

Topics: Anemia, Pernicious; Antibodies; Breast Feeding; Female; Humans; Infant; Mothers; Pancytopenia; Vitamin B 12; Vitamin B 12 Deficiency

A male Domestic Short-hair cat was presented for chronic weight loss, lethargy and hyporexia. Complete haematological examination revealed non-regenerative anaemia, neutropenia and thrombocytopenia, as well as Howell-Jolly bodies, anisocytosis, polychromasia and macrocytosis on blood smear evaluation. Histopathological evaluation of bone marrow biopsy disclosed hypocellularity consistent with bone marrow failure. Concurrent hypocobalaminaemia was identified and treated with parenteral cyanocobalamin supplementation. Other differential diagnoses for pancytopenia, including infectious, toxic, immune-mediated and neoplastic causes, were ruled out.. The cat's erythrocyte, leucocyte and platelet counts normalised after 2 months of cyanocobalamin supplementation, suggesting that pancytopenia may be a rare manifestation of feline cobalamin deficiency.

Topics: Animals; Barium; Bone Marrow; Cat Diseases; Cats; Diagnosis, Differential; Male; Pancytopenia; Vitamin B 12; Vitamin B 12 Deficiency

Severe B

Topics: Adult; Aftercare; Diagnosis, Differential; Diet, Vegetarian; Feeding Behavior; Humans; Hydroxocobalamin; Injections, Intramuscular; Life Support Care; Male; Malnutrition; Pancytopenia; Retinal Hemorrhage; Treatment Outcome; Vision Disorders; Vitamin B 12; Vitamin B 12 Deficiency

Vitamin B

Topics: Aged; Anemia, Pernicious; Diagnosis, Differential; Erythrocytes, Abnormal; Female; Humans; Injections, Intramuscular; Male; Neutrophils; Pancytopenia; Prevalence; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Adult; Anemia, Iron-Deficiency; Anemia, Pernicious; Biomarkers; Female; Humans; Hypothyroidism; Pancytopenia; Vitamin B 12; Vitamin B 12 Deficiency

Transcobalamin II deficiency is one of the rare causes of inherited vitamin B12 disorders in which the patients have characteristically normal or high vitamin B12 levels related to the transport defect of vitamin B12 into the cell, ending up with intracellular cobalamin depletion and high homocysteine and methylmalonic acid levels.. Herein, we describe the findings at presentation of four patients who were diagnosed to have transcobalamin II deficiency with novel mutations.. These patients with transcobalamin II deficiency were found to have novel mutations, of whom 2 had the same large deletion (homozygous c.1106+1516-1222+1231del).. Transcobalamin II deficiency should be considered in differential diagnosis of any infant with pancytopenia, failure to thrive, diarrhea, and vomiting.. Amaç: Transkobalamin II eksikliği nadir bir kalıtsal B12 vitamini bozukluğudur. Defektin B12 vitamininin transportu ile ilgili olması nedeniyle hastalar normal ya da yüksek B12 vitamini düzeylerine eşlik eden yüksek homosistein ve metilmalonik asit düzeylerine sahiptir. Gereç ve Yöntemler: Bu çalışmada transkobalamin II eksikliği tanısı alan dört hasta sunulmuştur. Bu hastalarda daha önce bildirilmemiş yeni mutasyonlar saptanmıştır. Bulgular: Hastaların ikisinde aynı büyük delesyon olduğu görülmüştür (homozigot c.1106+1516-1222+1231del). Sonuç: Pansitopeni, büyüme geriliği, ishal ya da kusması olan tüm bebeklerde transcobalamin II eksikliği ayırıcı tanıda düşünülmelidir.

Topics: Anemia, Megaloblastic; beta-Thalassemia; Bone Marrow; Chromosomes, Human, Pair 22; Codon, Nonsense; Consanguinity; Failure to Thrive; Female; Folic Acid; Frameshift Mutation; Genotype; Humans; Hydroxocobalamin; Infant; Male; Mutation; Mutation, Missense; Pancytopenia; Sequence Deletion; Transcobalamins; Vitamin B 12; Vomiting

A 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 B12 (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 B12 deficiency may present with findings mimicking acute leukaemia (pancytopenia and splenomegaly) and findings suggestive of pseudothrombotic microangiopathy.

Topics: Adolescent; Anemia, Macrocytic; Diagnosis, Differential; Hemolysis; Humans; Jaundice; Male; Pancytopenia; Splenomegaly; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B Complex

Topics: Adult; Anus, Imperforate; Ectodermal Dysplasia; Growth Disorders; Hearing Loss, Sensorineural; Humans; Hypothyroidism; Intellectual Disability; Male; Nose; Pancreatic Diseases; Pancytopenia; Vitamin B 12; Vitamin B 12 Deficiency; Young Adult

Topics: Female; Humans; Male; Myelodysplastic Syndromes; Pancytopenia; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Aged; Anemia, Megaloblastic; Ascorbic Acid; Ascorbic Acid Deficiency; Diet; Humans; Male; Pancytopenia; Treatment Outcome; Vitamin B 12; Vitamins

A previously healthy 66-year-old women presented with onset of general weakness, shortness of breath and significant weight loss. Due to appearance of jaundice, biliary obstruction had been ruled out by a CAT scan previous to the patients presentation in our practice.. The laboratory tests already arranged by the patients general practitioner showed a pronounced pancytopenia with megaloblastic anemia and hyperbilirubinemia. The bone marrow aspiration revealed a hypercellular bone marrow with megaloblastic erythropoiesis. The diagnosis of pernicious anemia was confirmed by the low cobalamin (vitamin B12) serum level and the presence of atrophic gastritis.. Pernicious anemia was treated with intramuscular injection of Cyanocobalamin (1000 µg) which resulted in an immediate reticulocytosis and a widely normalized blood cell count and bilirubin level four weeks after initiation of treatment.. The differential diagnosis of megaloblastic anemia covers a wide spectrum of diseases with different etiology. This case report demonstrates an example of a pernicious anemia with atypical and foudroyant clinical course.

Topics: Aged; Anemia, Macrocytic; Autoimmune Diseases; Biopsy; Bone Marrow; Diagnosis, Differential; Erythrocyte Indices; Female; Gastritis, Atrophic; Gastroscopy; Humans; Infusions, Intravenous; Jaundice; Megaloblasts; Pancytopenia; Ultrasonography; Vitamin B 12

We report the case of a 70-year-old man with pancytopaenia and new-onset recurrent generalised seizures. Detailed evaluation yielded a diagnosis of vitamin B(12) deficiency. He was treated with parenteral vitamin B(12) supplementation and antiepileptic drugs. Seizures are an unusual manifestation of vitamin B(12) deficiency and possible mechanisms of epileptogenesis are discussed.

Topics: Aged; Anticonvulsants; Cerebral Ventricles; Diagnosis, Differential; Drug Substitution; Epilepsy, Generalized; Humans; Image Interpretation, Computer-Assisted; Infusions, Intravenous; Leukoencephalopathies; Magnetic Resonance Imaging; Male; Neurologic Examination; Pancytopenia; Phenytoin; Recurrence; Vitamin B 12; Vitamin B 12 Deficiency

Decreased vitamin B12 concentration does not usually result in clinical or hematological abnormalities. Subacute combined spinal cord degeneration and pancytopenia are two serious and rarely displayed consequences that appear in severe deficits.. We present the case of a patient with subacute combined spinal cord degeneration and pancytopenia secondary to severe and sustained vitamin B12 deficiency. Such cases are rare nowadays and have potentially fatal consequences.. Vitamin B12 deficiency should be taken into consideration in the differential diagnosis in cases of blood disorders or severe neurological symptoms. Early diagnosis and treatment can avoid irreversible consequences.

Topics: Humans; Male; Middle Aged; Pancytopenia; Subacute Combined Degeneration; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency

We report the case of a 7-month-old breast fed infant who presented with a nose bleed and bruises. Investigation showed severe nutritional B12 deficiency anemia with a pancytopenia. It is important to take the nutritional history of both the infant and the mother for early prevention and treatment.

Topics: Anemia, Megaloblastic; Breast Feeding; Diet, Vegetarian; Humans; Infant; Male; Mothers; Pancytopenia; Severity of Illness Index; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency

Anemia is a common complication in malarial infection. Direct destruction and ineffective erythropoesis does not adequately explain the cause of anemia in malaria. We present a case with refractory megaloblastic anemia with asymptomatic falciparum malaria. We hypothesize that promoter variants in the inducible nitric oxide synthase gene might be the cause of severe refractory megaloblastic anemia and pancytopenia in our patient. Malaria should always be kept in mind as a cause of anemia especially in endemic areas even if the child is asymptomatic or there is no demonstrable parasite on routine smear examination.

Topics: Anemia, Megaloblastic; Antimalarials; Artemisinins; Artesunate; Child; Drug Therapy, Combination; Erythrocyte Transfusion; Fatal Outcome; Folic Acid; Humans; Malaria, Falciparum; Male; Nitric Oxide Synthase Type II; Pancytopenia; Plasmodium falciparum; Platelet Transfusion; Vitamin B 12; Vitamin B Complex

This study presents 12 patients (7 women and 5 men) with vitamin B(12)-responsive pancytopenia who had discordant laboratory findings and were misdiagnosed as having myelodysplastic syndrome (MDS). The median hemoglobin level was 6.5 g/dl, and the leukocyte and platelet counts were 2.85 × 10(9)/l and 55.5 × 10(9)/l, respectively. The median serum lactate dehydrogenase level was high (3,204.5 IU/l). The serum vitamin B(12) levels were within normal limits at the initial evaluation, but a serial follow-up of the vitamin B(12) levels revealed either fluctuations or a gradual decrease. The patients were initially diagnosed with MDS and responded rapidly to a 7-day parenteral B(12) treatment with normal complete blood counts (CBCs). We propose that patients suspected to have MDS may suffer from vitamin B(12) deficiency and that this can be revealed by a normalization of CBCs following 7 days of treatment with parental vitamin B(12).

Topics: Blood Cell Count; Diagnostic Errors; Female; Humans; Male; Myelodysplastic Syndromes; Pancytopenia; Retrospective Studies; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Female; Humans; Male; Myelodysplastic Syndromes; Pancytopenia; Vitamin B 12; Vitamin B 12 Deficiency

Topics: 2-Pyridinylmethylsulfinylbenzimidazoles; Adolescent; Amoxicillin; Anemia, Megaloblastic; Anti-Bacterial Agents; Clarithromycin; Helicobacter Infections; Helicobacter pylori; Humans; Lansoprazole; Male; Pancytopenia; Vitamin B 12; Vitamin B 12 Deficiency

Folate-deficiency anaemia occurs in about 4 per 100 000 people, although severe cases causing moderate pancytopenia are rarer. We present the case of a significant folate deficiency in a 50-year-old alcoholic with a background of mild liver impairment and recurrent nasal and rectal bleeding. Her blood tests showed profound macrocytic anaemia with haemoglobin 2.6 g/dl, leucopoenia with white cell count 3.2 × 10(9)/litre and thrombocytopenia with platelets 17 × 10(9)/litre. Serum folate was 0.8 ng/ml (normal 2.5-13.5 ng/ml) confirming severe deficiency. Despite these life-threatening results, the patient was stable, alert and was keen to avoid admission. Medical management of the anaemia included slow transfusion of red cells and one unit of platelets in view of haemorrhagic symptoms, two injections of vitamin B12 while awaiting assays and oral folic acid. A rapid improvement in the leucopoenia and thrombocytopenia resulted and no additional complications were encountered.

Topics: Anemia, Macrocytic; Combined Modality Therapy; Epistaxis; Erythrocyte Transfusion; Female; Folic Acid; Folic Acid Deficiency; Gastrointestinal Hemorrhage; Humans; Leukopenia; Liver Diseases, Alcoholic; Middle Aged; Pancytopenia; Platelet Transfusion; Thrombocytopenia; Vitamin B 12

The most frequent organ-specific autoimmune diseases associated with type 1 diabetes mellitus in children are hypothyroidism and celiac disease. Among adults, other associations exist, notably with pernicious anemia, which is extremely rare in children. We relate the observation of an adolescent with type 1 diabetes mellitus and hypothyroidism, admitted for severe anemia in addition to chronic anemia caused by autoimmune gastritis. Blood cell count showed severe aregenerative anemia with pancytopenia, with signs of non-autoimmune hemolysis. Vitamin B12 levels were low, bone marrow aspiration revealed erythroid hyperplasia, and anti-intrinsic factor antibodies were positive, providing the diagnosis of pernicious anemia. Treatment with intramuscular vitamin B12 produced brisk reticulosis after 6 days, with a subsequent rapid resolution of the anemia. Follow-up of type 1 diabetes mellitus in children requires screening for organ-specific autoimmune diseases; in case of unexplained anemia, autoimmune gastritis must be suggested. It can evolve into pernicious anemia.

Topics: Adolescent; Anemia, Pernicious; Autoimmune Diseases; Diabetes Mellitus, Type 1; Female; Gastritis; Hemolysis; Humans; Pancytopenia; Vitamin B 12; Vitamins

Transcobalamin II deficiency (# MIM 275350) is a rare, recessively inherited disorder of cobalamin transport that leads to intracellular cobalamin depletion with secondary impairment of methionine synthetase and methyl-malonyl CoA mutase activities. Affected individuals may suffer from long-term neurological sequelae if therapy with intramuscular hydroxocobalamin is not initiated promptly. We report two sisters with complete absence of transcobalamin due to homozygosity for a novel mutation (c.insC110) in the TCN2 gene that leads to a premature stop codon and non-functional protein. The older sister, now 4.5 years old, presented at 6 weeks of age with pancytopenia, protein losing enteropathy and a rapidly declining clinical course. Prompt therapy with 1mg hydroxocobalamin/day led to full recovery within days. Her now 1.5 year old sister was diagnosed shortly after birth and was started on hydroxocobalamin prior to onset of clinical symptoms. Interestingly, urinary methylmalonic acid excretion was increased significantly during the first days of life suggesting that functional cobalamin deficiency is present also during fetal life, although not giving rise to clinical symptoms until well after birth.

Topics: Child, Preschool; Disease Progression; Female; Humans; Infant; Methylmalonic Acid; Pancytopenia; Transcobalamins; Vitamin B 12; Vitamin B 12 Deficiency

It is unusual for inborn errors of metabolism to be considered in the investigative work-up of pancytopenia. We report a family in which the proband presented with failure to thrive at 2 months of age and subsequent bone marrow failure. A previous sibling had died at 7 months of age with suspected leukaemia. Haematological findings in the proband were significant for pancytopenia, and bone marrow aspiration showed dysplastic changes in all cell lineages. Urinary organic acid analysis revealed elevated methylmalonic acid. The synthesis of transcobalamin II (transcobalamin, TC) by cultured fibroblasts was markedly reduced, confirming the diagnosis of TC deficiency. The proband and his younger asymptomatic sister (also found to have TC deficiency) were homozygous for R399X (c.1195C>T), a novel mutation resulting in the loss of the C- terminal 29 amino acids of TC, a highly conserved region. Response to parenteral vitamin B(12) in the proband was dramatic. At 6 years 3 months of age, physical examination is normal and developmental level is age appropriate. His sister is clinically asymptomatic and is also developing normally. Propionylcarnitine concentrations were not elevated in the newborn screening cards from the proband and sister, but that was for specimens retrieved from storage after 7 years and 5 years, respectively. Inherited and acquired cobalamin disorders should both be considered in the differential diagnosis of bone marrow failure syndromes in young children. Early detection of the metabolic causes of bone marrow failure can ensure prompt recovery in some cases involving the vitamin B(12) pathway.

Topics: Biomarkers; Bone Marrow Diseases; Bone Marrow Examination; Cells, Cultured; Child; Child Development; Child, Preschool; DNA Mutational Analysis; Failure to Thrive; Female; Fibroblasts; Genetic Predisposition to Disease; Humans; Infant; Male; Metabolism, Inborn Errors; Mutation; Pancytopenia; Pedigree; Phenotype; Transcobalamins; Treatment Outcome; Vitamin B 12

Nutritional B12 deficiency in childhood is an uncommon disorder. Most cases are due to maternal insufficiency, resulting from deficient stores and intake, and is generally seen in exclusively breast fed infants. This report describes a breast-fed infant with megaloblastic anemia secondary to maternal vitamin B12 deficiency. We describe this patient to remind readers that B12 deficiency may cause severe pancytopenia and regression of motor functions. These patients can present with unexpected signs and symptoms, such as developmental delay and regression as in our patient. It is also important to take the nutritional history of both the child and the mother of early prevention and treatment. With early awareness and appropriate measures potentially irreversible neurologic damage can be prevented in the infant.

Topics: Anemia, Megaloblastic; Breast Feeding; Humans; Infant; Male; Pancytopenia; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Acute Disease; Adult; Female; Folic Acid; Humans; Lactation; Pancytopenia; Postpartum Period; Time Factors; Vitamin B 12

Sodium valproate is a commonly used anticonvulsant, particularly in the management of childhood refractory epilepsy. There is a good literature base regarding its haematological effects in this group of patients including the potential for toxic effect on the bone marrow. Valproate is increasingly being used in the treatment of psychiatric conditions, particularly bipolar affective disorder. In this article we describe a case of pancytopenia associated with a valproate level of 166 mg/l. The population of psychiatric patients is different in several ways from the population of children and young adults with epilepsy from whom the existing data comes. The psychiatric patients are older, more likely to misuse substances, more likely to take overdoses and may metabolize valproate more slowly. For these reasons it would be worthwhile investigating the relationship between valproate levels, macrocytosis, platelet counts and B12 levels in this group of patients. The results of such a study would give us a clearer understanding of what the desirable therapeutic range is for valproate in bipolar affective disorder and what, if any, monitoring should be undertaken.

Topics: Adult; Anticonvulsants; Folic Acid; Humans; Male; Pancytopenia; Schizophrenia; Schizophrenic Psychology; Valproic Acid; Vitamin B 12

The authors describe a 16-month-old infant presenting with neurologic developmental regression, severe pancytopenia, excessive skin pigmentation, and tremor resulting from nutritional vitamin B12 deficiency. She had been exclusively breast-fed and had refused to take any other food. Laboratory studies showed severe pancytopenia, a decrease in serum B12 levels, and an increase in urinary methylmalonic acid levels. Bone marrow aspiration was compatible with megaloblastic changes. Schilling test was normal. The serum B12 level of the mother was also low. Megaloblastic anemia resulting from inadequate B12 intake was diagnosed. Parenteral B12 therapy was initiated. The neurologic picture did not completely resolve, but pancytopenia, tremor, and hyperpigmentation of the extremities recovered completely.

Topics: Anemia, Megaloblastic; Female; Humans; Hyperpigmentation; Infant; Pancytopenia; Treatment Outcome; Tremor; Vitamin B 12; Vitamin B 12 Deficiency

A 40-year-old woman was admitted to our hospital because of pancytopenia with megaloblastic anemia. Two months later she complained of rapidly progressive gait disturbance and numbness in the distal part of limbs. She also told that her hair had turned totally gray in the third decade. Neurologically, mental state, cranial nerves and cerebellar functions were normal. Superficial sensations were impaired below the lower thoracic level and deep sensations were completely lost in the lower limbs. Moderate weakness was found in the lower limbs, symmetrically. Deep tendon reflexes were diminished in the upper limbs and absent in the lower limbs. Babinski's reflex was positive bilaterally. MR images of the spinal cord showed hyperintensity in the posterior column below the thoracic cord. Although the serum level of vitamin B12 was within normal range, serum homocysteine level was elevated markedly. Under the diagnosis of subacute combined degeneration (SCD) due to possible vitamin B12 deficiency, the treatment with intravenous injections of 500 micrograms/day of mecobalamin was undertaken. Muscle strength and sensory impairment improved progressively and she became able to walk with a cane. The coloration of her gray hair was also noted. After treatment, pancytopenia and megaloblastic anemia also markedly improved. Vitamin B12 became high in serum concentration and the serum level of homocysteine became normal. These clinical and laboratory findings support the diagnosis of SCD with normal serum level of vitamin B12 in our case, suggesting that the level of vitamin B12 in serum does not always correlate with that in tissue and, therefore, SCD should not be excluded just only by the reason of normal serum vitamin B12 level.

Topics: Adult; Anemia, Megaloblastic; Female; Homocysteine; Humans; Neurodegenerative Diseases; Pancytopenia; Vitamin B 12; Vitamin B 12 Deficiency

We present a case of extreme pancytopenia in a 27-year-old pregnant woman. The initial picture was compatible with a severe hematological problem in the category of aplastic anemia, paroxysmal nocturnal hemoglobinuria or even acute leukemia. The further biochemical investigations revealed, however, a folate deficiency. Nowadays this is a very rare cause of pancytopenia. Next to this she also had a Vitamin B(12) deficiency due to intrinsic factor failure. The recent literature is discussed.

Topics: Adult; Anemia, Megaloblastic; Blood Transfusion; Bone Marrow; Female; Folic Acid; Folic Acid Deficiency; Humans; Infant, Newborn; Intrinsic Factor; Male; Pancytopenia; Platelet Transfusion; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Vitamin B 12; Vitamin B 12 Deficiency

If all the elements of the complete blood cell count are considered in clinical context, they can provide an invaluable guide to the possible causes of a patient's anemia and the tests needed for definitive diagnosis. Unnecessary tests not only add to the expense of treatment but may result in delayed diagnosis and inappropriate treatment in some cases.

Topics: Aged; Algorithms; Anemia, Macrocytic; Blood Cell Count; Blood Transfusion; Diagnosis, Differential; Female; Ferrous Compounds; Humans; Hypothyroidism; Pancytopenia; Thyroid Function Tests; Vitamin B 12; Vitamin B 12 Deficiency

Eight patients with vitamin deficiency pancytopenia were admitted, within a year, in a department of internal medicine. Folic acid and vitamin B12 metabolism and the clinical and haematological symptoms are discussed. These vitamin deficiencies are frequent in underdeveloped countries and are responsible of megaloblastic anaemia. Such deficiencies may also influence the granulocyte and platelet lines and may be mistaken for leukaemia. A therapeutic test may be undertaken, giving rapid diagnosis and avoiding high mortality.

Topics: Adult; Blood Cell Count; Bone Marrow Examination; Developing Countries; Female; Folic Acid Deficiency; Humans; Male; Middle Aged; Pancytopenia; Time Factors; Vitamin B 12; Vitamin B 12 Deficiency

Five cases of Biermer's disease presenting as pancytopenia were observed over a 17-year period. In all cases, haemorrhagic and/or infectious complications occurred. The myelogram revealed qualitative medullary deficiency and laboratory data led to diagnosis. The importance of prompt substitutive therapy is underlined.

Topics: Aged; Aged, 80 and over; Anemia, Pernicious; Bone Marrow Examination; Female; Folic Acid Deficiency; Humans; Male; Pancytopenia; Vitamin B 12; Vitamin B 12 Deficiency

A rare case of long-term bone marrow failure with skin pigmentation is presented. The patient was a female with a long history of anemia and skin pigmentation since childhood, although she had no malformations nor chromosomal abnormalities. Hematological improvement has been maintained by the administration of prednisolone. This case may differ from other disorders known as congenital aplastic anemia.

Topics: Addison Disease; Anemia, Megaloblastic; Anemia, Refractory; Child; Chromosome Aberrations; Fanconi Anemia; Female; Graves Disease; Hemochromatosis; Humans; Pancytopenia; Pigmentation Disorders; Skin Pigmentation; Steroids; Vitamin B 12

Topics: Anemia, Megaloblastic; Bone Marrow; Erythroid Precursor Cells; Female; Folic Acid; Hematopoietic Stem Cells; Humans; Hyperplasia; Middle Aged; Pancytopenia; Transcobalamins; Vitamin B 12

An infant with deficiency of transcobalamin II (TCII) presented with virtually complete failure to thrive and life-threatening pancytopenia. Methylmalonic acid and homocystine were found in the urine. The concentration of B12 in the serum was 26 pg/ml. Fibroblasts derived from the patient failed to take up labeled cobalamin in the absence of a source of TCII. Uptake was normal in the presence of TCII. Treatment with parenteral cobalamin reversed the clinical and hematological manifestations of the disease but she developed glossitis when the interval between injections was lengthened. Intestinal absorption of 57Co-cobalamin was less than 1% and remained abnormal when highly purified human intrinsic factor was given along with the labeled B12. Absorption improved when the labeled B12 was given together with rabbit TCII. The data suggest that TCII as well as intrinsic factor is required for transport of cobalamin from the intestine to the blood.

Topics: Failure to Thrive; Female; Homocystinuria; Humans; Infant; Intestinal Absorption; Malonates; Methylmalonic Acid; Pancytopenia; Transcobalamins; Vitamin B 12

Selective cobalamin (vitamin B12) malabsorption has been well described as a familial phenomenon, but severe pancytopenia in adolescence as a result of this defect has not previously been documented.

Topics: Adolescent; Humans; Intestinal Absorption; Malabsorption Syndromes; Male; Pancytopenia; Vitamin B 12

During a 5 year period, 28 adult patients with megaloblastic anaemia (MA) were treated in University Hospital. 71% of the patients were Indians. Symptoms of anaemia was the main presenting complaint in 18 (64%) of patients while in 2 patients peripheral neuropathy was the main problem. Pancytopenia was a common finding (present in 18 (64%) patients) while 6 (21%) patients had severe thrombocytopenia (less than 20 x 10(9)/L). The peripheral blood morphology provided important diagnostic clues i.e. macrocytes and/or hypersegmented neutrophils seen in most patients. Concurrent iron deficiency 'dampened' the megaloblastic picture. Though most patients suffered from MA of nutritional origin, 3 patients were diagnosed to have pernicious anaemia and 2 patients had myelodysplastic syndrome. Important practice points were detection of concurrent infection and hypokalemia which necessitated appropriate treatment. The controversy of blood transfusion in treatment of MA and the importance of reassessing patients after treatment were highlighted.

Topics: Anemia, Macrocytic; Anemia, Megaloblastic; Anemia, Pernicious; Bone Marrow; Folic Acid; Humans; Pancytopenia; Vitamin B 12

We report the case of a 5 month old breast fed infant who presented with a history of vomiting, pallor, and failure to thrive. Investigations showed severe nutritional vitamin B12 deficiency with a megaloblastic pancytopenia. This deficiency was due to low vitamin B12 concentrations in the maternal breast milk, and subsequent investigations showed maternal pernicious anaemia. Treatment of the infant with vitamin B12 resulted in a rapid clinical and haematological improvement. This case represents an unusual presentation of pernicious anaemia.

Topics: Anemia, Pernicious; Breast Feeding; Female; Humans; Infant, Newborn; Milk, Human; Pancytopenia; Vitamin B 12; Vitamin B 12 Deficiency

A female infant presented at seven weeks of age with failure to thrive, progressively severe pancytopenia, hypogammaglobulinemia and, mucosal ulceration. Bone marrow morphology showed severed megaloblastic changes in the myeloid series with a shift to the left and an increased number of blasts with abnormal morphology. Erythroid precursors and megakaryocytes were markedly decreased. Cytogenetic studies showed marked aneuploidy and increased chromosomal breakage. Treatment with high doses of vitamin B12 resulted in a dramatic clinical response with hematological values becoming normal. The patient's serum showed absence of transcobalamin II, and very little TC I and TC III binding. The patient's parents had only half the lower limits of normal transcobalamin II. QUSO G-32 was used for separation of transcobalamins, and the results were confirmed by Sephacryl S-300. This case illustrates the usefulness of QUSO in the rapid diagnosis of transcobalamin II deficiency.

Topics: Blood Cell Count; Blood Proteins; Bone Marrow; Chromosome Aberrations; Female; Hematocrit; Humans; Immunoglobulins; Infant; Pancytopenia; Transcobalamins; Vitamin B 12

Dyskeratosis congenita is a rare genodermatosis whose hematologic complications include pancytopenia of variable time of onset, a propensity for opportunistic infections, and neoplasia. A family in which the disorder segregated in 3 generations and involved 9 members is reported, and the hematologic data of the 46 previously reported cases are reviewed.

Topics: Adult; Alkaline Phosphatase; Blood Coagulation; Bone Marrow; Fetal Hemoglobin; Folic Acid; Humans; Keratosis; Leukoplakia; Male; Nails; Pancytopenia; Pedigree; Pigmentation Disorders; Skin Diseases; Vitamin B 12

Topics: Anemia; Anemia, Aplastic; Ascorbic Acid; Benzene; Corrinoids; Diagnosis; Humans; Occupational Diseases; Pancytopenia; Pyridoxine; Toxicology; Vitamin B 12