11/30. chediak-higashi syndrome in the intensive care unit.chediak-higashi syndrome is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules and oculocutaneous albinism. We describe the clinical and laboratory findings of a patient with chediak-higashi syndrome who was diagnosed and treated in the intensive care unit because of bleeding tendency after surgery.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
12/30. chediak-higashi syndrome in pregnancy.We report the first known case of chediak-higashi syndrome in human pregnancy. This rare autosomal recessive disorder is characterized by partial oculocutaneous albinism, decreased leukocyte chemotaxis, susceptibility to infection, and death in childhood. Pathognomonic giant cytoplasmic granules are postulated to be dysfunctional fused lysosomes, which influence a wide range of physiologic processes. pregnancy did not seem to exert any influence on the course of the disease. The pregnancy, labor, and delivery were not affected and the infant and placenta were normal.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
13/30. Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for chediak-higashi syndrome.Three patients with chediak-higashi syndrome underwent allogeneic bone marrow transplantation between the ages of 2 years 9 months and 7 years. The outcome was uneventful, with sustained mixed chimerism. No subsequent recurrent infections or hemophagocytic syndrome were observed. At the age of 22 to 24 years, these 3 patients developed a neurologic deficit combining difficulty walking, loss of balance, and tremor. Neurologic evaluation demonstrated cerebellar ataxia and signs of peripheral neuropathy. Moderate axon loss and rarefaction of large myelinated fibers were observed on semithin sections of peripheral nerve. Cerebellar atrophy was detected by cerebral magnetic resonance imaging in 2 patients. We also reviewed the very long-term outcome of the other 11 patients with chediak-higashi syndrome who had received bone marrow transplants at our center since 1981. All displayed neurologic deficits or low cognitive abilities.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
14/30. Two novel CHS1 (LYST) mutations: clinical correlations in an infant with chediak-higashi syndrome.chediak-higashi syndrome (CHS) is a rare autosomal recessive disease characterized by variable degrees of oculocutaneous albinism, recurrent infections, and a mild bleeding tendency, with late neurologic dysfunction. Most patients also undergo an accelerated phase of lymphohistiocytosis and die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT). Mutations in the CHS1 (LYST) gene result in CHS. Here, we describe an adopted infant who is compound heterozygous for two novel CHS1 gene mutations, both of which are predicted to result in truncated proteins. The two mutations are a nonsense mutation (c.1540 C>T, CGA>TGA, R514X) in exon 5 and a one base pair deletion (del c.9893T, F3298fsX3304) in exon 43, coding for part of the CHS1 protein's BEACH domain. These two newly described mutations are expected to give rise to a severe phenotype and, indeed, the patient had absolutely no cytotoxicity by natural killer cells or cytotoxic lymphocytes prior to his allogeneic SCT.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
15/30. Unrelated donor bone marrow transplantation for correction of lethal congenital immunodeficiencies.Unrelated donor marrow transplantation was undertaken in eight infants with severe combined immunodeficiency (SCID) and two children each with wiskott-aldrich syndrome (WAS) and chediak-higashi syndrome (CHS) who did not have histocompatible siblings. Donors for three patients were phenotypically matched at all HLA-A, B, Dr, and Dw loci, whereas nine donors were mismatched from the recipients at one of the HLA-A or B loci but phenotypically identical at evaluable D loci. All but one patient received conditioning chemotherapy and/or radiotherapy before infusion of donor marrow, which was not T-cell depleted. Prophylaxis for graft-versus-host disease (GVHD) consisted of methotrexate and prednisone combined with either cyclosporine A (six patients), antithymocyte globulin (five patients), or anti-CD5 ricin A chain immunotoxin (one patient). All patients engrafted with donor cells, and only 4 of 12 experienced any GVHD (1 of 8 SCID, 1 of 2 WAS, 2 of 2 CHS). Two children who developed grade II and two who developed grade III GVHD were successfully treated and all are now alive, off immuno-suppressive therapy, with no evidence of chronic GVHD greater than 18 months after transplant. Ten patients are alive with excellent immunoreconstitution greater than or equal to 1 year to greater than or equal to 3 years after transplant; actuarial survival is predicted to be 83% with a median follow-up of 2 years. Two children with SCID succumbed to pre-existing opportunistic infection early posttransplant. We conclude that closely matched unrelated donor bone marrow transplantation can correct congenital immunodeficiencies including variants of SCID, WAS, and CHS, with an acceptably low incidence of transplant-related complications, principally GVHD.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
16/30. chediak-higashi syndrome: a case report.A 5-month-old Chinese male infant was referred to the University Hospital, Kuala Lumpur for persistent fever, generalised rash and abdominal distension. Clinically he was suspected to have haemophagocytic lymphohistiocytosis. Haematological findings including the presence of several abnormal giant granules in neutrophils and single large azurophilic granules in many lymphocytes and monocytes in the peripheral blood established the diagnosis of chediak-higashi syndrome. The patient responded to allogeneic bone marrow transplant. This paper discusses the characteristic features, clinical course and management of this rare disorder. We suggest that peripheral blood film examination for the abnormal giant granules in granulocytes is an essential investigation in all young children with frequent recurrent infections or who are suspected to have virus-associated haemophagocytic syndrome or familial haemophagocytic lymphohistiocytosis.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
17/30. chediak-higashi syndrome: report of a case with uncommon presentation and review literature.chediak-higashi syndrome (CHS) is a very rare autosomal recessive immunodeficiency disorder characterized by partial albinism, recurrent pyogenic infections, and large granules in all granule-containing cells. The author describes a Thai girl who was the first case of CHS in thailand. She presented in the accelerated phase of CHS, which leads to repeated infections and bleeding, often resulting in fatal outcome. Pancytopenias, hepatosplenomegaly, lymphohistiocytic infiltration in bone marrow and the abnormal characteristic granules in leukocyte clinched the diagnosis.- - - - - - - - - - ranking = 2keywords = infection (Clic here for more details about this article) |
18/30. Epstein-Barr virus infection in chediak-higashi syndrome mimicking acute lymphocytic leukemia.We have had the opportunity to study a case of chediak-higashi syndrome (CHS) in the accelerated phase that was associated with Epstein-Barr virus (EBV) infection. The clinical course of a 12-year-old boy was characterized by fever, lymphadenopathy, hepatosplenomegaly, and pancytopenia. However, in the terminal stage, the appearance of an atypical lymphoblastic leukocytosis was morphologically indistinguishable from acute lymphocytic leukemia, accompanied by benign histiocytosis with hemophagocytosis. autopsy examination revealed an atypical lymphoid infiltration favoring EBV infection as the primary diagnosis. This case underscores the fatal consequences of EBV infection in CHS.- - - - - - - - - - ranking = 7keywords = infection (Clic here for more details about this article) |
19/30. multiple myeloma in a mink handler following exposure to Aleutian disease.Aleutian disease of mink is a viral illness characterized by systemic plasmocytosis and hypergammaglobulinemia. Some affected mink develop a monoclonal gammaglobulin spike and Bence-Jones proteinuria. A case of multiple myeloma in a mink handler with a 15-year history of exposure to Aleutian mink is presented. Previously reported cases of possible Aleutian disease (AD) in man are discussed and the pathogenesis of AD reviewed. Aleutian disease virus (ADV) may produce asymptomatic infection in exposed individuals. Available data suggest symptomatic disease in humans is extremely rare.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
20/30. Giant cytoplasmic granules in langerhans cells of chediak-higashi syndrome.Giant membrane-bound cytoplasmic granules were found in the epidermal Langerhans cells of a patient with the chediak-higashi syndrome. These cells also contained normal-appearing Birbeck granules. The giant granules had a granular or sometimes globular internal structure; they are believed to derive from fusion of lysosomes or some portion of Birbeck granules. It is unclear whether this morphologic change in Langerhans cell interferes with their antigen-presenting function; it may be, in part, responsible for the frequent infections seen in patients with chediak-higashi syndrome that are otherwise more clearly related to the abnormalities in neutrophils and lymphocytes. The Langerhans cell is another cellular type in chediak-higashi syndrome in which giant cytoplasmic granules are found.- - - - - - - - - - ranking = 1keywords = infection (Clic here for more details about this article) |
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