Cases reported "Chediak-Higashi Syndrome"

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1/4. chediak-higashi syndrome: four cases from Northern finland.

    chediak-higashi syndrome (CHS) is a rare multiorgan disease entity with autosomal recessive inheritance characterized by oculocutaneous albinism, bleeding tendency, recurrent bacterial infections and various neurological symptoms. Intracellular vesicle formation is deficient, resulting in giant granules in many cells, e.g. giant melanosomes in the melanocytes. diagnosis has been based on morphological examination of peripheral blood and bone marrow, with giant granules seen in cells of the myeloid lineage and in lymphocytes. The ultimate diagnostic test is to look for a mutated LYST gene. Most patients develop an accelerated phase of the disease with deposition of lymphohistiocytes in the liver, spleen, lymph nodes and bone marrow, resulting in hepatosplenomegaly, bone marrow infiltration and haemophagocytosis. Peripheral blood neutropenia becomes more profound as anaemia and thrombocytopenia develop. Most patients succumb before the age of 10 years. Four patients with CHS are described, one of whom is a long-term survivor after successful allogeneic bone marrow transplantation, two succumbed during the accelerated phase and one is living with a chronic form of the disease. Conclusion: Allogeneic bone marrow transplantation from an HLA-matched sibling is the therapy of choice and should be performed early. If there is no matched family donor, an unrelated donor or a placental blood graft is a good alternative. The clinical picture of CHS is heterogeneous and therapeutic decisions need to be made on an individual basis.
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keywords = bacterial infection
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2/4. Fluorescent cytometric analysis of polymorphonuclear leukocytes in chediak-higashi syndrome: diminished C3bi receptor expression (OKM1) with normal granular cell density.

    chediak-higashi syndrome (CHS) has been associated with recurrent bacterial infections and defective polymorphonuclear (PMN) leukocyte function. Confirmation of the diagnosis of CHS and defective PMN function was established in a 2-month-old with accelerated phase CHS. The diagnosis was confirmed by demonstrating reduced PMN degranulation (beta-glucuronidase release 34.1 /- 0.9% versus 5.1 /- 4% and lysozyme release 17.6 /- 1.2% versus 11.1 /- 7% (control versus CHS) and staphylococcal bacterial killing at 15' 51.4 /- 3.6% versus 24.9 /- .4% (control versus CHS). Additional studies using fluorescent cytometric analysis were made to investigate other etiologies of PMN dysfunction in CHS. Total cell density and PMN granularity, as measured by fluorescent-activated cell sorter side scatter analysis, was no different from CHS and age-matched controls. Although CHS is characterized by large PMN granular inclusions, right angle light scatter analysis in this study suggests that the total cell density within the PMN of patients with CHS is normal (D less than .01). PMN granular release of surface receptors was also studied using antibody binding and fluorescent analysis. OKM1 antibody-binding demonstrated significantly reduced C3bi (MO-1) receptor expression (13% of control) p less than 0.001. Decreased surface reception expression of C3bi receptors may play an additional role in defective PMN mobility, chemotaxis, and bactericidal activity in patients with CHS.
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keywords = bacterial infection
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3/4. anesthesia in Che'diak-Higashi syndrome--case report.

    Che'diak-Higashi syndrome (CHS) is a lethal, progressive, autosomal recessive, systemic disorder associated with oculocutaneous albinism, photopobia, nystagmus, massive leukocyte inclusions (giant lysosomes), histiocytic infiltration of multiple body organs, development of pancytopenia, hepatosplenomegaly, recurrent or persistent bacterial infections, and a possible predisposition to development of malignant lymphoma. This rare disorder of children characterized by impaired resistance to bacterial infection leading to early demise. This syndrome is rarely seen. We are presenting this case report to discuss a patient with Che'diak-Higashi syndrome, who was scheduled for splenectomy in our clinic.
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keywords = bacterial infection
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4/4. Allogeneic bone marrow transplantation in chediak-higashi syndrome.

    A boy with chediak-higashi syndrome (CHS) treated by allogeneic bone marrow transplantation (BMT) is described. He had had several respiratory infections during his first 2 years of life, and at the age of 2.5 years he presented with an accelerated phase of CHS. Despite treatment with ascorbic acid and trimethoprim/sulfamethoxazole, he continued to experience recurrent bacterial infections. Allogeneic BMT was performed with his HLA- and mixed leukocyte culture-identical healthy brother as the donor. The preparative regimen consisted of busulfan and cyclophosphamide, and methotrexate and cyclosporine A were given as prophylaxis for graft-versus-host disease (GVHD). The patient engrafted well, and no symptoms or signs of acute GVHD developed. He then achieved chimerism status, in which half the peripheral blood neutrophils and some of the bone marrow myelopoietic cells displayed Chediak-Higashi granules, and dna analysis showed half the peripheral blood cells to be of donor origin and the other half to be of host origin. The boy is currently alive and well 24 months after transplant. Allogeneic BMT, even with mixed chimerism as a result, is a potentially curative therapy for CHS.
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keywords = bacterial infection
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