1/46. multiple myeloma involving the stomach with vitamin B12 deficiency.Involvement of the gastrointestinal tract by plasmocytoma is rare. In a 78-year-old man with IgA lambda multiple myeloma stage IIIB, the evaluation of a megaloblastic anaemia revealed a subnormal vitamin B12 level. Urinary excretion of isotope-labelled vitamin B12 was reduced. Tests for gastric parietal cell and intrinsic factor antibodies were negative. There were no clinical signs of an insufficient absorption in the ileum. biopsy specimens of the stomach showed a dense, diffuse infiltrate of malignant plasma cells in the lamina propria of fundus and corpus. A urease test for helicobacter pylori was positive. There was a minor haematological improvement when vitamin B12 was given parenterally. Several combinations of cytostatic drugs had no effect on the manifestations of the multiple myeloma. In our patient the vitamin B12 deficiency may be related to a displacement or destruction of parietal cells by malignant plasma cells.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/46. Imerslund-Grasbeck syndrome in an African patient.Imerslund-Grasbeck syndrome (IGS) is a rare cause of megaloblastic anaemia in young children. We wish to report the first case described from africa. The diagnosis of IGS was made on the findings of a low vitamin B12 level, mild proteinuria, and a vitamin B12 absorption test unaffected by the intrinsic factor. The patient responded well to treatment with intramuscular vitamin B12.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
3/46. Haemolytic uraemic syndrome and pulmonary hypertension in a patient with methionine synthase deficiency.An 18-month-old girl presented with macrocytic megaloblastic anaemia followed by haemolytic uraemic syndrome. Metabolic investigations led to the identification of an inborn error of cobalamin metabolism consisting of defective methylcobalamin biosynthesis, probably cobalamin G, since methionine synthase activity was decreased under standard reducing conditions. Despite treatment, pulmonary hypertension progressively developed and responded to oxygen therapy. Renal involvement evolved to terminal failure and haemodialysis, while pulmonary hypertension was controlled by oxygen therapy. Such clinical manifestations have never been reported in association with a defect of methylcobalamin and thus of methionine biosynthesis. A congenital abnormality of cobalamin metabolism was suspected then confirmed in the presence of typical haematological features associated with unusual clinical manifestations such as progressive renal failure and pulmonary hypertension.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
4/46. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I.The thiamine transporter gene SLC19A2 was recently found to be mutated in thiamine responsive megaloblastic anaemia with diabetes and deafness (TRMA, Rogers syndrome), an early onset autosomal recessive disorder. We now report a novel G1074A transition mutation in exon 4 of the SLC19A2 gene, predicting a Trp358 to ter change, in a girl with consanguineous parents. In addition to the typical triad of Rogers syndrome, the girl presented with short stature, hepatosplenomegaly, retinal degeneration, and a brain MRI lesion. Both muscle and skin biopsies were obtained before high dose thiamine supplementation. While no mitochondrial abnormalities were seen on morphological examination of muscle, biochemical analysis showed a severe deficiency of pyruvate dehydrogenase and complex I of the respiratory chain. In the patient's fibroblasts, the supplementation with high doses of thiamine resulted in restoration of complex I activity. In conclusion, we provide evidence that thiamine deficiency affects complex I activity. The clinical features of TRMA, resembling in part those found in typical mitochondrial disorders with complex I deficiency, may be caused by a secondary defect in mitochondrial energy production.- - - - - - - - - - ranking = 5keywords = anaemia (Clic here for more details about this article) |
5/46. A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.Thiamine-responsive megaloblastic anaemia (TRMA) syndrome with diabetes and deafness was found in two patients from a Tunisian kindred. The proband was homozygous for a novel mutation, 287delG, in the high-affinity thiamine transporter gene, SLC19A2. We demonstrated that fibroblasts from this patient exhibited defective thiamine transport. These data confirm that the SLC19A2 gene is the high-affinity thiamine carrier and that this novel mutation is responsible for TRMA syndrome.- - - - - - - - - - ranking = 5keywords = anaemia (Clic here for more details about this article) |
6/46. Reversible central nervous system dysfunction in folate deficiency.An epileptic patient on chronic anticonvulsant drug therapy is described, in whom anaemia and neurological abnormalities including progressive dementia, bilateral pyramidal tract signs, incontinence and ataxia developed. Vitamin B12 serum levels and absorption were normal, but serum folic acid levels were low. Both the neurological disturbances and anaemia resolved following oral folic acid administration. This sequence of events in our patient suggests a cause and effect relationship between the folate deficiency and the coexistent, transient neurological syndrome.- - - - - - - - - - ranking = 2keywords = anaemia (Clic here for more details about this article) |
7/46. iron and vitamin B12 deficiency anaemia in a vegetarian: a diagnostic approach by enzyme-linked immunosorbent assay and radioimmunoassay.This article presents the case of a 46-year-old vegetarian who had a painful dry socket in the left third molar areas. Since the patient's general appraisal was anaemic, investigations for haematological status, folic acid and vitamin B12 were performed. The results revealed that the patient was severely iron deficient and slightly vitamin B12 deficient.- - - - - - - - - - ranking = 4keywords = anaemia (Clic here for more details about this article) |
8/46. CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two families.The cblE type of homocystinuria is a rare autosomal recessive disorder, which manifests with megaloblastic anaemia and developmental delay in early childhood. This disease is caused by a defect in reductive activation of methionine synthase (MTR). Our study was directed at clinical, biochemical, enzymatic and molecular characterization of two Czech patients with the cblE type of homocystinuria. Case 1 involves a 20-year-old mentally retarded patient who presented with megaloblastic anaemia at 10 weeks of age. She was treated with folates and vitamin B12, and subsequent attempts to cease administration of folates led to recurrence of megaloblastic anaemia. Biochemical features included severe hyperhomocysteinaemia and hypomethioninaemia and in fibroblasts defective formation of methionine from formate, and no complementation with cblE cells. Subsequent molecular analysis of the methionine synthase reductase (MTRR) gene revealed compound heterozygosity for a transition c.1459G>A (G487R) and a 2bp insertion (c.1623-1624insTA). Case 2 involves an 8-year-old girl with nystagmus and developmental delay in whom megaloblastic anaemia was detected at 11 weeks of age. Severe hyperhomocysteinaemia with normal methionine levels was found and enzymatic and complementation studies confirmed the cblE defect. This patient is homozygous for a 140 bp insertion (c.903-904ins140). The insertion is caused by a T>C transition within intron 6 of the MTRR gene, which presumably leads to activation of an exon splicing enhancer. In the families of both patients, enzymatic and mutation analyses were successfully used for prenatal diagnosis. Our study expands the knowledge of the phenotypic and genotypic variability of the cblE type of homocystinuria and supports the concept that this disorder is caused by mutations in the MTRR gene.- - - - - - - - - - ranking = 4keywords = anaemia (Clic here for more details about this article) |
9/46. Dietary folate deficiency with normal red cell folate and circulating blasts.This report describes a 26 year old woman, of Pakistani origin, who presented five months postpartum with severe megaloblastic anaemia as a result of nutritional folate deficiency. This case was unusual in that a small number of myeloblasts were present in the peripheral blood at presentation, and this circulating population temporarily increased in size when folate replacement was begun. We also highlight the need to recognise the non-linear relation between haematocrit and red blood cell folate concentration when the haematocrit is very low (< 0.15) and emphasise the importance of the clinical history.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
10/46. Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia.A 9-year study of thiamine metabolism and cellular transport was performed in two patients with thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and sensorineural deafness, in their relatives, and in age-matched controls from the same area. The ratios between the content of thiamine and that of its phosphoesters in erythrocytes were within the normal range, whereas the absolute values of thiamine and thiamine compounds were reduced by about 40% as compared to controls. Thiamine pyrophosphokinase activity was about 30% lower than in controls. Thiamine treatment restored the levels of thiamine and thiamine compounds to normal values, whereas kinase was unaffected. Both the saturable (specific, predominant at low, less than 2 mumol/L, physiological concentrations of thiamine) and the non-saturable component of thiamine transport were investigated. erythrocytes and ghosts from patients exhibited no saturable component, this abnormality being specific for the patients and not shared by their parents. It is concluded that the cells from thiamine-responsive megaloblastic anaemia patients contain low levels of thiamine compounds, probably due to their inability to take up and retain physiological concentrations of thiamine, as a result of the lack of the saturable, specific component of transport and reduced thiamine pyrophosphokinase.- - - - - - - - - - ranking = 6keywords = anaemia (Clic here for more details about this article) |
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