Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027947 (neutropenia)
 17,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of hairy cell leukaemia (HCL), a rare leukaemia, is reported here. The patient was presented with high grade continuous fever with left upper abdominal discomfort for 6 days. He was moderately anaemic, had no peripheral lymphadenopathy with mild hepatosplenomegaly. He was anaemic (Hb-7.8 gm/dl), total leukocyte count was 20 x 109/L. Peripheral blood film showed lymphocytosis (92%) with neutropenia (8%) and absolute neutophil count (ANC) was 1 x 109/L. On review, 88% of the peripheral cells had peripheral hairy projections resembling hairy cell (HC). Bone marrow examination was consistent with HCL (morrow hairy cell = 52%) including marker studies. Tartrate resistant acid phosphatase test (TRAP) was also positive. He had opportunistic mycobecterial infection giving a positive bronchial lavage for acid fast bacilli. After controlling the infection he was advised a single dose chemotherapy of 2-chlorodeoxyadenosine (2-CDA). After that he was in partial remission and after 25 months clinical and pathological relapses occurred and a second dose of 2-CDA was given and the patient went into complete remission.
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PMID:Hairy cell leukaemia with advanced treatment - a case report. 1289 49

Ataxia-telangiectasia (AT) is an autosomal recessive syndrome of combined immunodeficiency. Hallmarks of the disease comprise progressive cerebellar ataxia, oculocutaneous telangiectasia, cancer susceptibility and variable humoral and cellular immunodeficiency. We describe a patient with AT presenting with autoimmune haemolytic anaemia, neutropenia, hepatosplenomegaly, lymphadenopathy and hyper-IgM at the age of 6 months. At the age of 26 months she developed persistent fever, progressive lymphadenopathy and pulmonary nodular infiltrates, which were responsive to steroid therapy.
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PMID:Unusual and severe disease course in a child with ataxia-telangiectasia. 1291 15

Hepatosplenic microabscesses secondary to invasion by various organisms may result in life-threatening conditions, especially in patients with cancer. Whether these patients should continue ongoing cytotoxic therapy, which might result in neutropenia, with the risk of progressive abscess formation or fungemia, remains a dilemma. We report five cases of pediatric acute leukemia with hepatosplenic microabscesses in children aged 4 years to 18 years. These patients presented with prolonged fever and neutropenia after antineoplastic chemotherapy, followed by abdominal pain, hepatosplenomegaly and hepatic dysfunction. Abdominal ultrasound and computed tomography (CT) or magnetic resonance imaging (MRI) demonstrated multiple small lesions compatible with hepatosplenic candidiasis in all of the patients. Cultures, including blood or stool cultures, were positive in only two cases. Treatment with intravenous antifungal agents, including amphotericin B, liposomal amphotericin B, and/or fluconazole were successful in two cases. These two patients remained event-free and survived for more than 24 months (20 months and 22 months after infection was diagnosed). The duration of systemic antifungal medication administration ranged from 3 months to 22 months. The serial image examinations revealed drastic reductions in small residual lesions in the two patients who survived the longest. The major issues for these patients were how long the antifungal therapy should be administered for, and how to select the optimal drug and dosage to avoid hepatic and renal toxicity. Among our patients, alternative therapy with amphotericin B, liposomal amphotericin B, and fluconazole was used according to the patients' conditions, and the duration of antifungal therapy was determined by clinical manifestations and imaging study changes.
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PMID:Hepatosplenic microabscesses in pediatric leukemia: a report of five cases. 1292 24

Anorexia nervosa is a chronic psychiatric process characterized by a restrictive disorder in alimentary habits. Hematologic alterations in the peripheral blood include cytopenias involving one or more hematopoietic lineages. Morphologic changes in the bone marrow and stereologic alterations in bone marrow adiopocytes may also be observed in anorexia nervosa. We present a 12-year-old girl who had chronic anorexia and one third of body weight loss during an 8-month period. She was apathetic and had missed several menstrual cycles. The sex maturity rating was Tanner stage IV. There was no lymphadenopathy, no hepatosplenomegaly, and no identifiable tumor mass. She was not anemic, but was found to have leukopenia, neutropenia and a low level of triiodothyronine. Sections of the bone marrow biopsy showed almost complete serous atrophy (gelatinous degeneration) of the bone marrow. In this patient, the bone marrow alteration is related to nutritional deprivation of anorexia nervosa.
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PMID:Gelatinous degeneration of the bone marrow in anorexia nervosa. 1579 62

A 42-year-old woman was diagnosed with myelodysplastic syndrome with fibrosis that developed bilaterally, cervical lymphadenopathy and cutaneous infiltration by trilineage extramedullary hematopoiesis after granulocyte colony-stimulating factor therapy because of severe neutropenia. Hepatosplenomegaly was not observed during her follow-up. Extramedullary hematopoiesis disappeared after growth factor therapy was stopped. Although the neutropenia was alleviated by growth factor administration, the appearance of an unusual involvement of extramedullary hematopoiesis should be kept in mind.
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PMID:Unusual extramedullary hematopoiesis in a patient receiving granulocyte colony-stimulating factor. 1701 39

The Asian variant of intravascular large B-cell lymphoma (AIVL) is a rare aggressive lymphoma characterized by various clinical symptoms, hemophagocytic syndrome and predominant growth within vessels. We present a 73-year-old man with relapsed AIVL who had been treated with six courses of CHOP regimen. A half year later, he presented with high fever, sweat, dementia and hepatosplenomegaly without lymphadenopathy. A bone marrow biopsy showed prominent hemophagocytosis and immunological staining disclosed an augmented intrasinusal pattern of atypical large lymphocytes characteristic of the CD20+ and CD5+ phenotypes. As salvage therapy, CND-R (rituximab, cladribine, mitoxantrone, dexamethasone) was performed, and the clinical symptoms immediately and dramatically improved. Subsequently, CND-R therapy was repeated every 4 weeks. No serious adverse events were observed with the exception of grade 4 neutropenia and grade 3 thrombocytopenia. After completion of the fifth course, a bone marrow biopsy pathologically confirmed complete remission, leading to termination of this therapy. The patient has remained in remission for more than 15 months. CND-R therapy, which is effective for indolent lymphoma, may be one of the candidates in salvage therapy for relapsed AIVL.
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PMID:[Successful salvage therapy with cladribine and rituximab for a patient with a relapsed Asian variant of intravascular large B-cell lymphoma]. 1709 79

Omenn syndrome is a severe combined immunodeficiency characterized by erythroderma, hepatosplenomegaly, lymphadenopathy and failure to thrive, with activated oligoclonal T lymphocytes and an absence of circulating B cells.A 3 day-old boy presented with a congenital erythroderma. Investigations revealed a marked neutropenia and lymphopenia and the absence of a thymus. Genetic studies showed RAG 1 mutations. He was successfully treated with an HLA identical bone marrow transplantation. Omenn syndrome is a rare severe combined immunodeficiency. Most cases are due to mutations in the RAG genes with autosomal recessive transmission. Our observation is original because of an incomplete clinical presentation. During the course of the disease, the child had no failure to thrive, no organomegaly and no recurrent infection. Immunodeficiency must be excluded in every case of neonatal erythroderma and an immunological assessment should be performed without delay.
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PMID:Omenn syndrome: a rare case of neonatal erythroderma. 1733 97

We present a brief review of Gaucher disease, the most common lysosomal storage disease. Gaucher disease is a rare autosomal recessive disorder characterized by defective function of the catabolic enzyme beta-glucocerebrosidase, leading to an accumulation of its substrate, glucocerebroside, in the mononuclear phagocyte system, especially histiocytes in the spleen, lymph nodes, and bone marrow; Kupffer cells in the liver; osteoclasts in bone; microglia in the central nervous system; alveolar macrophages in the lungs; and histiocytes in the gastrointestinal tracts, genitourinary tracts, and the peritoneum. Clinical signs and symptoms include neurologic dysfunctions, bone infarcts and malformations, hepatosplenomegaly and hypersplenism leading to anemia, neutropenia, and thrombocytopenia. Enzyme replacement therapy with recombinant glucocerebrosidase is the mainstay of treatment for Gaucher disease, which became the first successfully managed lipid storage disease. Future treatments may include oral enzyme replacement and/or gene therapy interventions.
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PMID:Gaucher disease: review of the literature. 1846 35

The role of Parvovirus B19 in acute leukemia is under debate. This study aimed to detect parvovirus B19 DNA together with its antibodies in the sera of children with recent acute leukemia and those with acute leukemia receiving chemotherapy to clarify the contribution of this infection to changes observed in hematological and clinical presentations in these populations. Two groups were included: Group I comprised 45 children with acute leukemia receiving chemotherapy and Group II comprised 40 children with recently diagnosed acute leukemia. Serum parvovirus B19 IgG and IgM were investigated by enzyme-linked immunosorbant assay and the virus DNA was sought by polymerase chain reaction assay. Viral DNA was found in 22.2% of Group I patients and in 45% of Group II patients. Hemoglobin levels were significantly reduced in patients with recent infection, accompanied by statistically significant lymphocytosis in Group I patients. Group II patients with recent infection had marked neutropenia with lymphocytosis and thrombocytopenia. There was statistically significant lymphadenopathy and hepatosplenomegaly in patients with recent infection in both groups. Parvovirus B19 infection is an important cause of cytopenia in children with acute leukemia both when recently diagnosed and receiving chemotherapy. This can affect the schedule of chemotherapy. Moreover, the presence of Parvovirus B19 is associated with marked lymphadenopathy and hepatosplenomegaly.
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PMID:Clinical and hematological study for Parvovirus b19 infection in children with acute leukemia. 1926 Oct 33

Cytomegalovirus (CMV) infection is the most common cause of congenital infection in the developed world, occurring in approximately 1% of all liveborns. Symptomatic disease occurs in 10% of all congenitally infected infants, resulting in a spectrum of clinical manifestations that include microcephaly, chorioretinitis, hepatosplenomegaly and sensorineural hearing loss, among others. Even those children who are asymptomatic at birth have a risk of hearing loss, with approximately 8% experiencing this sequela. Overall, congenital CMV infection accounts for one-third of all cases of sensorineural hearing loss. The economic burden of disease exceeds $2 billion annually in the USA. Therefore, this infection has been the target for antiviral therapy. Studies performed by the National Institute of Allergy and Infectious Diseases Collaborative Antiviral Study Group (CASG) have evaluated ganciclovir for the treatment of symptomatic congenital CMV infection with central nervous system involvement. In a randomized, controlled clinical trial of ganciclovir treatment (6 mg/kg iv every 12 h for 6 weeks) brainstem-evoked responses were utilized as the primary endpoint and demonstrated stabilization of hearing both at 6 months and >1 year. Treatment was associated with neutropenia in over 60% of treated patients. Since ganciclovir must be given intravenously, studies with its prodrug, valganciclovir, have been performed to assess pharmacokinetics and pharmacodynamics. Currently, a clinical trial of 6 weeks versus 6 months of valganciclovir is being performed by the CASG. Notably, only intravenous ganciclovir and orally administered valganciclovir have been used to treat congenital CMV infection. Hopefully, other drugs such as maribavir will be available for evaluation in this population.
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PMID:Treatment of congenital cytomegalovirus infection: implications for future therapeutic strategies. 1928 11


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