1/87. A focused approach to anemia.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.- - - - - - - - - - ranking = 1keywords = b (Clic here for more details about this article) |
2/87. Myeloneuropathy following nitrous oxide anesthaesia in a patient with macrocytic anaemia.The neurological condition triggered by anaesthesia with nitrous oxide involves the cyanocobalamine pathway and is characterised by progressive demyelination and axonal lesions of the peripheral nerves and cervicothoracic spinal cord (posterior and anterolateral columns) giving a peripheral neuropathy and very frequently subacute combined degeneration of the spinal cord. It is possible to show these demyelinating lesions by MRI of the spine, allowing early diagnosis and follow-up. We describe a case of myeloneuropathy with onset a few hours after nitrous oxide anaesthesia in a patient with macrocytic anaemia and possible subclinical vitamin B(12) deficiency and MRI evidence of a lesion of the cervical spinal cord. Neurological and haematological improvement followed cyanocobalamine replacement.- - - - - - - - - - ranking = 220.41387925814keywords = vitamin, deficiency, b (Clic here for more details about this article) |
3/87. Acute axonal polyneuropathy in chronic alcoholism and malnutrition.In contrast to the classic, slowly progressive polyneuropathy in alcoholic patients, acute forms, clinically mimicking guillain-barre syndrome, are rare. We present a patient who developed motor weakness and sensory loss in all four limbs within four days. Laboratory data were consistent with long-term alcohol abuse and documented thiamine deficiency. Repeated cerebrospinal fluid examinations were normal. Electrophysiological studies showed an acute sensorimotor polyneuropathy with predominantly axonal involvement. We conclude that acute alcoholic neuropathy has to be distinguished from guillain-barre syndrome and other forms of acute polyneuropathy by using clinical, laboratory, and electrophysiological data. Both ethanol toxicity and vitamin deficiency could play a role in the pathogenesis.- - - - - - - - - - ranking = 289.07173283538keywords = vitamin, deficiency, b (Clic here for more details about this article) |
4/87. Macrocytic anemia and thrombocytosis associated with thymoma: a case report.Thymomas are often associated with autoimmune disorders. We report on a 45-year-old female patient with thymoma and hypogammaglobulinemia (Good's syndrome) who developed symptomatic macrocytic anemia (Hb 4.4 g/dl, MCV 112 fl) and thrombocytosis (Plt 442 G/l). Besides hypogammaglobulinemia (IgG 589 mg/dl), an inverted ratio of CD4( )/CD8( ) cells was seen. The bone marrow biopsy showed a slightly hypercellular bone marrow with normal granulopoiesis, normal megakaryopoiesis and a mild dyserythropoiesis without any ring-sideroblasts. The in-vitro stem cell culture from the bone marrow revealed an atypical growth of macroclusters, reduced BFU-E and CFU-GEMM colony growth, whereas the CFU-GM colony growth was within the normal range. The chromosomal analysis showed a normal karyotype. The plasma vitamin B(12) and folate levels were within normal ranges, and we could not detect any autoantibodies. These findings excluded the differential diagnoses pure red cell aplasia (PRCA) and pernicious anemia. After resection of the thymoma of mixed cell type, the macrocytic anemia and thrombocytosis disappeared. The clinical course was complicated by a cerebral palsy and a life-threatening fungal septicemia after surgery. In the third year after thymectomy, hyporegenerative macrocytic anemia and thrombocytosis reappeared and an immunosuppressive treatment with prednisolone (1 mg/kg BW) was started. After initiation of the prednisolone therapy, reticulocyte counts increased and macrocytic anemia as well as thrombocytosis disappeared. The normalization of these laboratory parameters during glucocorticoid therapy suggests that in rare cases the constellation of macrocytic anemia, thrombocytosis and hypogammaglobulinemia may be due to an underlying immunologic mechanism.- - - - - - - - - - ranking = 153.75602568089keywords = vitamin, b (Clic here for more details about this article) |
5/87. 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 = 352.28926788622keywords = deficiency, b (Clic here for more details about this article) |
6/87. Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia.Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis. Severe anemia developed after a few phlebotomies, and she was also found to have congenital dyserythropoietic anemia that, though not completely typical, resembled type II. Only genetic testing allowed the definition of the coexistence of the 2 diseases, both responsible for the iron overload. This report points out the need to consider congenital dyserythropoietic anemia in patients with hemochromatosis and unexplained macrocytosis and, conversely, to check for the presence of hereditary hemochromatosis in patients with congenital dyserythropoietic anemia and severe iron overload. To the authors' knowledge, this is the first report of homozygosity for the C282Y mutation of the HFE gene in a patient affected by congenital dyserythropoietic anemia.- - - - - - - - - - ranking = 1.5keywords = b (Clic here for more details about this article) |
7/87. Clinical heterogeneity in mitochondrial dna deletion disorders: a diagnostic challenge of Pearson syndrome.The clinical presentation of mitochondrial dna (mtDNA) disorders is quite diverse. Very often, the initial symptoms do not fit a specific disease, and diagnosis is difficult to make. We describe a patient who presented with macrocytic anemia. Extensive biochemical and clinical work-up failed to provide an etiology for the macrocytic anemia. The patient over the course of 6 years developed gait problems, exercise intolerance, episodic vomiting, short stature, dermatological problems, and recurrent infection. At age 8 years she had encephalopathy with ataxia and dysphagia. The presence of elevated lactate, bilateral basal ganglia calcification, and ragged red fibers led to mtDNA mutational analysis. A novel 4.4-kb deletion from nucleotide position 10,560 to nucleotide position 14, 980 was identified in muscle biopsy. The same heteroplasmic mtDNA deletion was present in blood, buccal cells, and hair follicles, but not in mother's blood, consistent with sporadic mutation in the patient. This case emphasizes the importance of considering mtDNA disorder in patients with multisystemic symptoms that cannot be explained by a specific diagnosis.- - - - - - - - - - ranking = 3.75keywords = b (Clic here for more details about this article) |
8/87. Runner's anemia.Macrocytic anemia occurring in patients with fatigue suggests numerous diagnoses, ranging from nutritional deficiencies to a myelodysplastic syndrome. A careful history-taking is critically important for recognition of runner's anemia, which is due to plasma volume expansion, with hemolysis from the pounding of feet on pavement, and hemoglobinuria. Gastrointestinal blood loss may also contribute to anemia in long-distance runners. Early recognition of runner's anemia in patients with a complex presentation of anemia is important in circumventing many diagnostic tests. Runner's anemia should be considered when, amidst a constellation of signs and symptoms, mild anemia is well tolerated by an avid runner.- - - - - - - - - - ranking = 1.25keywords = b (Clic here for more details about this article) |
9/87. A new hematologic syndrome with a distinct karyotype: the 5 q--chromosome.Five patients, four women and one man, age 32-8- yr, all whites, had refractory anemia with the same abnormal bone marrow karyotype, i.e., a partial deletion of the long arm of the No. 5 chromosome. The hematologic syndrome was practically the same in these five cases. Examination of the blood revealed a moderate to severe, generally macrocytic anemia with slight leukopenia but normal or elevated platelet count. The bone marrow showed a depressed erythroid series and some abnormalities of the granulocytic series with an occasional excess of myeloblasts. Most of the megakaryocytes had a nonlobulated nucleus. These features, as well as cytogenetic, electron microscopic, isotopic, platelet function, and immunologic studies, are described in detail. The relationship of this newly established syndrome to other hematologic diseases is discussed. The syndrome constitutes another example of the association between a specific abnormal chromosome and a distinct hematologic disorder.- - - - - - - - - - ranking = 3keywords = b (Clic here for more details about this article) |
10/87. hypothyroidism associated with myeloid neoplasia. About 2 cases.We report 2 cases of hypothyroidism in whom the associated haematological disturbances (macrocytic anaemia in both cases, mild leukopenia and thrombopenia in one patient) failed to be corrected by thyroid hormone replacement therapy. Further investigations led to the diagnosis of acute myeloid leukaemia (AML) in the first patient and myelodysplastic syndrome (MDS) in the other. The reasons of the delayed diagnosis and the possible mechanisms explaining this rare combination are discussed. The hypothesis of a purely coincidental association seems most likely.- - - - - - - - - - ranking = 2.75keywords = b (Clic here for more details about this article) |
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