1/208. Familial cerebellar hypoplasia and pancytopenia without chromosomal breakages.Two siblings manifested a neuro-haematologic syndrome characterised by low birth weight, failure to thrive, chronic persistent tongue ulceration, severe truncal ataxia and pancytopenia without either telangiectasia or chromosomal instability. One sibling died from sepsis and the cerebellum demonstrated reduced cellularity of the molecular and granular layers with relative preservation of purkinje cells and minimal gliosis. A surviving sibling has shown haematologic progression to a myelodysplastic disorder. There was no evidence of any chromosomal instability following exposure of fibroblasts and lymphocytes to irradiation. monosomy-7 was not present in the surviving sibling. We suspect that these two patients represent another example of the rare Hoyeraal-Hreidarsson syndrome and we are currently engaged in very close monitoring of the surviving sibling for evidence of any karyotypic abnormality.- - - - - - - - - - ranking = 1keywords = cell (Clic here for more details about this article) |
2/208. 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 = 0.5keywords = cell (Clic here for more details about this article) |
3/208. Isovaleric acidemia with promyelocytic myeloproliferative syndrome.Isovaleric acidemia, an autosomal recessive disorder, is due to isovaleryl-coenzyme a dehydrogenase deficiency and is one of the branched-chain aminoacidopathies. Isovaleric acidemia may present in the neonatal period with an acute episode of severe metabolic acidosis, ketosis, and vomiting and may lead to coma and death in the first 2 months of life. This report concerns an infant who presented at 10 days of age because of lethargy, poor feeding, hypothermia, cholestasis, and thrombocytopenia, leukopenia, and profound pancytopenia. death occurred at 19 days of age. autopsy showed mild fatty change in the liver and extramedullary hematopoiesis, generalized escherichia coli sepsis, and myelodysplasia of the bone marrow with arrest of the myeloid series at the promyelocytic stage. The appearance resembled promyelocytic leukemia, but the diagnostic 15:17 translocation was not present. The maturation arrest in granulopoiesis in isovaleric acidemia appears to be most likely due to a direct metabolic effect on granulocyte precursor cells.- - - - - - - - - - ranking = 0.5keywords = cell (Clic here for more details about this article) |
4/208. An otherwise typical case of non-Japanese hairy cell leukemia with CD10 and CDw75 expression: response to cladaribine phosphate therapy.Hairy cell leukemia (HCL) in Western patients typically expresses CD19, CD20, CD11c, CD25, HLA-DR, and IgG/lambda and lacks expression of CD5 and CD10. The immunophenotype is in contrast to Japanese HCL which typically expresses CD5 and CD10. Western and Japanese HCL also differ in their clinical presentation and response to treatment with alpha-interferon. We report a case of non-Japanese HCL which presented typically with pancytopenia; however, the immunophenotype was atypical with expression of CD10 and CDw75. CDw75 expression has not previously been described in either Japanese or non-Japanese HCL. The patient achieved a marked partial pathologic response and complete clinical response to treatment with cladaribine phosphate.- - - - - - - - - - ranking = 2.5keywords = cell (Clic here for more details about this article) |
5/208. Bone marrow aplasia with prominent atypical plasmacytic proliferation preceding acute lymphoblastic leukemia.A two-year-old boy presented with pancytopenia. bone marrow examination revealed an aplastic marrow with prominent immature plasma cell proliferation, which mimicked plasma cell leukemia. immunohistochemistry, however, revealed a polyclonal population consistent with a reactive process, excluding plasma cell neoplasia. Administration of granulocyte-colony stimulating factor resulted in recovery of normal hematopoiesis with resolution of plasmacytosis. Seven months later, the patient had an elevated white blood cell count and bone marrow findings diagnostic of acute lymphoblastic leukemia. To the best of our knowledge this is the first reported case of bone marrow aplasia with prominent polyclonal plasmacytosis presenting as a prodrome of acute lymphoblastic leukemia in childhood.- - - - - - - - - - ranking = 2keywords = cell (Clic here for more details about this article) |
6/208. A syndrome involving intrauterine growth retardation, microcephaly, cerebellar hypoplasia, B lymphocyte deficiency, and progressive pancytopenia.We report a new complex syndrome involving profound failure to thrive with severe intrauterine growth retardation, cerebellar abnormalities, microcephaly, a complete lack of B lymphocyte development, and secondary, progressive marrow aplasia. B cell differentiation was found to be blocked at the pro-B cell stage. Although not strictly proven, a genetic origin is likely, according to similar cases reported in the literature. Three candidate genes, PAX5, encoding B cell-specific activator protein, a factor involved in B cell lineage commitment, stromal cell-derived factor 1, and CXCR4, encoding a chemokine and its receptor, respectively, were thought to be responsible for this disease, given the similarity between the phenotype of the corresponding knock-out mice and the clinical features of the patient. However, the genomic dna sequences of these 3 genes were normal, and normal amounts of stromal cell-derived factor 1 and CXCR4 were present. These data strongly suggest that another molecule is involved in early B cell differentiation, hematopoiesis, and cerebellar development in humans.- - - - - - - - - - ranking = 3.5keywords = cell (Clic here for more details about this article) |
7/208. Proliferative behavior of hemopoietic cells in preleukemia and overt leukemia observed in one patient.Hemopoietic cell proliferation was studied in a patient suffering from preleukemia characterized by peripheral pancytopenia and hypercellular bone marrow with ineffective erythropoiesis. Two years later when overt acute myelogenous leukemia had developed the study was repeated. The kinetics of proliferation were investigated by a new method which allows evaluation of the rate and time of dna synthesis in individual morphologically defined cells. erythropoiesis was found ineffective to the same degree in both stages of disease. The rate of erythroid cell proliferation, however, was reduced in overt leukemia only. The myeloid system showed a grossly reduced production rate of myeloblasts in preleukemia whilst the same parameter was strongly increased in leukemia. This high production rate of myeloblasts in overt leukemia was interpreted as indication of a far-reaching self-maintenance of the myeloblast pool in this stage of disease. The proliferative activity of the individual myeloblasts was reduced already in preleukemia, and even more so in leukemia. In order to explain the amplification of the myeloblast pool with the onset of overt leukemia a change in the mode of myeloblast divisions is assumed. For this a transition from steady state to some degree of exponential growth gives the most plausible explanation.- - - - - - - - - - ranking = 4keywords = cell (Clic here for more details about this article) |
8/208. Presentation of intravascular lymphomatosis as lumbosacral polyradiculopathy.A 53-year-old man developed progressive sensory disturbance and weakness in the legs, sphincter disturbance, back pain, systemic symptoms, and pancytopenia. Electrophysiological tests indicated a widespread lumbosacral polyradiculopathy. Spinal magnetic resonance imaging and routine cerebrospinal fluid analysis showed minor nonspecific abnormalities. Bone marrow and liver biopsies showed hemophagocytosis; and polymerase chain reaction of cerebrospinal fluid, bone marrow, and serum suggested active infection with human herpesvirus-6. autopsy revealed that his neurological symptoms resulted from intravascular lymphomatosis (angiotropic large cell lymphoma), a rare variant of lymphoma with predilection for the nervous system.- - - - - - - - - - ranking = 0.5keywords = cell (Clic here for more details about this article) |
9/208. Severe pancytopenia triggered by recombinant hepatitis B vaccine.We describe the case of a teenager who developed fever, arthritis, cutaneous vasculitis and severe pancytopenia 3 weeks after the third vaccination boost with a recombinant hepatitis B vaccine. bone marrow examination showed paucity of late myeloid elements and, subsequently, maturation arrest. interferon-gamma (IFN-gamma) production by peripheral blood mononuclear cells from the patient was dramatically increased. An underlying immune predisposition (HLA-DR3) may have indirectly enabled the vaccine to trigger a hepatitis b virus-specific cytotoxic T-lymphocyte response. It is therefore possible that the pancytopenia was induced by a dysregulation of the CD8 T-cell compartment via increased IFN-gamma production.- - - - - - - - - - ranking = 1keywords = cell (Clic here for more details about this article) |
10/208. A case of Hoyeraal-Hreidarsson syndrome: delayed myelination and hypoplasia of corpus callosum are other important signs.We report the case of a 7-year old girl with Hoyeraal-Hreidarsson syndrome (HHS) and review other cases of HHS. In addition to the previously described important signs of HHS, i.e., prenatal growth retardation, microcephaly, psychomotor retardation, progressive pancytopenia, immunological abnormalities, and cerebellar hypoplasia and ataxia, we consider that delayed myelination of cerebral white matter and hypoplastic corpus callosum should be added to the list of important signs. However, it is not clear whether delayed myelination of white matter in HHS indicates dysmyelination or demyelination. Furthermore, we suggest that immunological abnormalities of both T and B cells are one of the important signs of HHS. We consider these new important signs to be valuable for the diagnosis of HHS.- - - - - - - - - - ranking = 0.5keywords = cell (Clic here for more details about this article) |
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