1/120. 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 = vitamin, deficiency, b (Clic here for more details about this article) |
2/120. 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 = 0.30913750137538keywords = vitamin, b (Clic here for more details about this article) |
3/120. Intrathecal methotrexate-induced megaloblastic anemia in patients with acute leukemia.OBJECTIVE: To evaluate the occurrence of megaloblastic anemia induced by the infusion of therapeutic or prophylactic methotrexate in patients with acute leukemia. DESIGN: Data on 3 patients with acute leukemia receiving intrathecal methotrexate were prospectively analyzed. SETTING: Large tertiary-care center. RESULTS: All 3 patients with acute leukemia developed megaloblastic anemia confirmed by examination of the bone marrow aspirate and biopsy. Two of the 3 patients had low folic acid levels, while all patients had normal serum B(12) levels. All patients responded favorably to a therapeutic trial of folic acid. The median time for recovery of the hematologic parameters in these patients was 7 days. CONCLUSIONS: Intrathecally administered methotrexate may result in megaloblastic changes in the bone marrow of leukemic patients. The morphologic clues suggestive of folate deficiency in patients with acute leukemia may be masked by coexisting factors, such as the effects of cytotoxic treatment, prior transfusions, or persistent changes from the leukemic clone itself. Caution should be exercised to avoid attributing these changes to the neoplastic process, since the prognosis and treatment for the conditions involved are totally different. Repeat examination of the bone marrow, obtaining folic acid and vitamin B(12) levels, and a therapeutic trial of folic acid may help identify and reverse these changes.- - - - - - - - - - ranking = 0.14176047033428keywords = vitamin, deficiency, b (Clic here for more details about this article) |
4/120. 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 = 0.14598507046939keywords = deficiency, b (Clic here for more details about this article) |
5/120. Dihydrofolate reductase deficiency causing megaloblastic anemia in two families.To determine the cause of severe megaloblastosis detected at birth and at four weeks in two unrelated infants their bone marrow and liver cells were studied. Both patients had abnormal deoxyuridine suppression tests, corrected to normal by 5-formyl tetrahydrofolic acid. liver-cell homogenate from one patient had a previously undetectable level of dihydrofolate reductase restored to normal by high cation concentration in the assay. Activity of the liver-cell homogenate from the other patient, which was one quarter of the normal level, was restored to only half normal activity by high cation concentration. Dihydrofolic acid reductase deficiency prevents this conversion of folic acid to tetrahydrofolic acid; the enzyme activity appears to differ in each patient. A satisfactory clinical response in both patients followed parenteral therapy with 5-formyl tetrahydrofolic acid. One sibling in each family died of a similar illness. Autosomal recessive inheritance is probable.- - - - - - - - - - ranking = 0.18122747738993keywords = deficiency, b (Clic here for more details about this article) |
6/120. chloramphenicol-a possible role in the treatment of leukaemia?The effect of chloramphenicol in short term in-vitro bone marrow cultures was studied. There was a striking reduction in the incorporation of tritiated thymidine into dna in bone marrow cultures with abnormal proliferative properties as compared with normal tissue. A 50% reduction in dna thymidine incorporation in leukaemia marrow was also obtained with in-vitro chloramphenicol concentrations which in contrast had little or no effect in normal tissue. These in-vitro levels of the antibiotic can be readily achieved in vivo. An in-vivo study confirmed the ability of chloramphenicol to reduce the white cell and blast count in a patient with chronic myeloid leukaemia in blastic transformation.- - - - - - - - - - ranking = 0.0025077213936337keywords = b (Clic here for more details about this article) |
7/120. Acute neurologic decompensation in an infant with cobalamin deficiency exposed to nitrous oxide.After exposure to nitrous oxide, an infant with unrecognized cobalamin deficiency developed neurologic deterioration and pancytopenia. Hematologic recovery and partial resolution of his neurologic changes followed repletion of the vitamin. nitrous oxide depletes bioavailable cobalamin and may be a dangerous anesthetic in patients with cobalamin deficiency.- - - - - - - - - - ranking = 0.3181654065826keywords = vitamin, deficiency, b (Clic here for more details about this article) |
8/120. 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 = 0.25286970110497keywords = deficiency, b (Clic here for more details about this article) |
9/120. Transient splenic accumulation of Tc-99m HMDP caused by megaloblastic anemia.A case of transient splenic accumulation of the bone-seeking agent Tc-99m HMDP is reported. This effect was caused by transient megaloblastic anemia induced by 5-fluorouracil chemotherapy. The extent of splenic uptake reflected the development and severity of megaloblastic anemia. The mechanism of splenic accumulation is thought to be similar to transient iron deposition in the spleen by megaloblastic anemia.- - - - - - - - - - ranking = 0.003086426330626keywords = b (Clic here for more details about this article) |
10/120. Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy.Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disease in which the active thiamine uptake into cells is disturbed. The molecular basis underlying the disorder has been related to mutations in the gene SLC19A2 on chromosome 1q23.3 that encodes a functional thiamine transporter. The protein is predicted to have 12 transmembrane domains. TRMA is characterized by sensorineural deafness, diabetes mellitus, megaloblastic anemia, and cardiomyopathy. optic nerve atrophy and retinal dystrophy have been reported in a small number of patients. We report a 15-year-old girl with TRMA and cone-rod dystrophy and confirm that retinal dystrophy may form part of the syndrome. Differential diagnosis of syndromes with deafness, diabetes mellitus, and optic nerve atrophy or retinal dystrophy are discussed. The authors suggest that ERG be performed in all patients with TRMA.- - - - - - - - - - ranking = 0.003086426330626keywords = b (Clic here for more details about this article) |
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