Cases reported "Chediak-Higashi Syndrome"

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1/4. Platelet function in the chediak-higashi syndrome.

    Platelet function studies were performed on two patients with the chediak-higashi syndrome, one of whom had a history of easy bruising unrelated to thrombocytopenia. Both patients had prolonged bleeding times, abnormal platelet aggregation, and a defect of platelet storage granules, manifested by reduced platelet ADP, an increased ATP/ADP ratio, increased adenine nucleotide specific radioactivity after 3H-adenine labeling, and decreased platelet uptake of radioactive 5-hydroxytryptamine. These findings confirm preliminary data in animals with the chediak-higashi syndrome, provide and explanation for impaired primary hemostasis in these patients, and illustrate another disorder in which platelet storage-pool deficiency occurs.
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2/4. Chromosome one polymorphism in a girl with the chediak-higashi syndrome.

    In a girl with the chediak-higashi syndrome, a remarkable polymorphism of chromosome number one was identified by G and C banding. The association of the polymorphisms of constitutive heterochromatin with abnormal phenotypes is discussed. It is suggested that further cytogenetic studies might be performed in humans and animals with this rare autosomal recessive disorder in order to confirm the present findings.
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3/4. Giant platelet granules in a child with the chediak-higashi syndrome.

    Previous ultrastructural investigation have not identified abnormal lysosomes in platelets obtained from humans or animals with the chediak-higashi syndrome. We report here a patient whose megakaryocytes and platelets were found to contain giant granules when viewed by light and electron microscopy. The granules measured up to 1.5 micrometer in diameter, contained either homogeneous or heterogeneous material, were acid phosphatase positive, and were present in approximately 30% of bone marrow megakaryocytes and 5% of circulating platelets. A decrease was observed in serotonin containing dense granules, serotonin uptake and serotonin release as reported previously. microtubules in platelets and megakaryocytes were intact and no other morphologic abnormalities were identified. No clinical evidence of bleeding was observed in this patient and platelet counts have been normal. The lack of giant platelet lysosomes in other reported cases of chediak-higashi syndrome attests to significant heterogeneity in this disease with a spectrum of clinical and laboratory findings.
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4/4. The renal pathology of Chediak-Higashi disease: usefulness of the urinary sediment as a confirmatory diagnostic test.

    The presence of large cytoplasmic inclusions, thought to be abnormal lysosomes, seems to be the cytological hallmark of Chediak-Higashi disease in both humans and animals. This cell anomaly, originally reported in the leukocytes, is also present in various tissue cells, including kidneys. In the patient described, the abnormal inclusions were identified in renal cells of the urinary sediment. Thus, urine could provide a convenient source of diagnostic material in patients with Chediak-Higashi disease. In addition, the ultrastructure of these inclusions is described for the first time in human renal tissue.
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