1/13. Chediak-Higashi-Steinbrinck syndrome (CHS) in a 27-year-old woman--effects of G-CSF treatment.Chediak-Higashi-Steinbrinck syndrome (CHS) is a rare autosomal recessive disorder which is usually lethal in early childhood. Diagnostic hallmark is the occurrence of giant inclusion bodies in peripheral leukocytes and their bone marrow precursors. We report on a 27-year-old female patient who was admitted for treatment of a skin abscess. She recovered after intravenous antibiotic treatment and surgical incision. Hematological investigation was initiated because of a persisting neutropenia of 15%, with a leukocyte count initially in the normal range but subsequent leukopenia. Case history revealed recurrent skin infections from childhood on, regularly requiring surgical intervention. One year prior to admission a neuropathy had been diagnosed, while a partial albinism had been known for years. Microscopic examinations of peripheral blood and bone marrow aspirate smears were diagnostic for CHS. Additionally, a secondary antibody deficiency was found. Normalization of the white blood cell count, including the differential count, was observed following initiation of G-CSF treatment. Functional assessment of phagocytosis and oxidative burst activity of granulocytes revealed normal results before and after stimulation with G-CSF, however, natural killer cell activity was only weak, with slight improvement after G-CSF treatment in vivo. cytogenetic analysis showed a normal female karyotype. Although the haploidentical brother of the patient may serve as an allogeneic stem cell donor, transplantation has been postponed because of further deterioration of her already existing CHS-specific neurological impairment. Nevertheless, while receiving G-CSF maintenance treatment our patient experienced no further infectious episodes within 6 months after diagnosis of CHS.- - - - - - - - - - ranking = 1keywords = granulocyte, precursor (Clic here for more details about this article) |
2/13. Features of severe periodontal disease in a teenager with chediak-higashi syndrome.BACKGROUND: chediak-higashi syndrome (C-HS) is a rare congenital disease characterized by defective neutrophil function with abnormal lysosomal inclusions, neutropenia, and reduced chemotaxis. The complete syndrome includes oculocutaneous albinism with photophobia, neurologic features, recurrent infections, and enterocolitis. methods: A 14-year-old male C-HS patient was referred to us because of serious periodontal destruction with acute inflamed gingiva and ulcers. Clinical and biological investigations were performed, leading to the diagnosis of C-HS. RESULTS: Laboratory findings included neutropenia and hypergammaglobulinemia. Peripheral blood smears showed giant granules in neutrophils, eosinophils, and granulocytes. bone marrow smears showed giant inclusions in leukocyte precursor cells. These granules and inclusions were characteristic of chediak-higashi syndrome. Oral radiographic status showed extensive loss of alveolar bone leading, in most cases, to tooth exfoliation. bacteria often associated with periodontitis were detected in subgingival plaque samples, including fusobacterium nucleatum, campylobacter rectus, prevotella melaninogenica, peptostreptococcus anaerobius, and clostridium sp. Biopsies of periodontal tissues for light and electronic microscopic examinations revealed massive bacterial invasion of the epithelial tissue, epithelial cells, and connective tissue. Ultrastructural observations of periodontal polymorphonuclear leukocytes showed defective granulation, with abnormal granules not discharging their lysosomal content against engulfed bacteria. Viable dividing bacteria were found in the cytoplasm. CONCLUSIONS: In this case, early-onset periodontitis seems to be the expression of C-HS granulocyte deficiency. Periodontal treatment of these patients is often unsuccessful. This case report illustrates the importance of the dentist in initiating clinical and biological investigations in such early aggressive periodontitis in young patients.- - - - - - - - - - ranking = 1.9519753148308keywords = granulocyte, precursor (Clic here for more details about this article) |
3/13. Clinicopathological aspects of chediak-higashi syndrome in the accelerated phase.This report describes clinical and laboratory features of a case of chediak-higashi syndrome that presented in the accelerated phase of the disorder. This female infant presented with a fever, marked neutropenia, large cytoplasmic granules in leukocytes and a constellation of features that suggested a virus-associated hemophagocytic syndrome. The clinical course was marked by limited response to the therapeutic agents that included ascorbate, cytotoxic agents and granulocyte colony-stimulating factor.- - - - - - - - - - ranking = 0.95197531483082keywords = granulocyte (Clic here for more details about this article) |
4/13. 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 = 0.95197531483082keywords = granulocyte (Clic here for more details about this article) |
5/13. Pseudo-Chediak-Higashi anomaly in promyelocytic leukaemia associated with intravascular coagulation.Giant granules were present in the cytoplasm of marrow granulocytes and in abnormal immature leucocytes circulating in the blood of a patient with promyelocytic leukaemia associated with intravascular coagulation. These granules resembled those seen in chediak-higashi syndrome.- - - - - - - - - - ranking = 0.95197531483082keywords = granulocyte (Clic here for more details about this article) |
6/13. chediak-higashi syndrome. Expression of the cytoplasmic defect by in vitro cultures of bone marrow progenitors.Studies on proliferation and differentiation of granulocyte-monocyte progenitor cells in chediak-higashi syndrome (CHS) were done on a 1-month-old patient, using the soft-agar bone marrow culture technique. The number of granulocyte-macrophage colony-forming cells (GM-CFC) was markedly increased, but with a normal distribution into granulocyte, macrophage, or mixed colonies. Morphologic, cytochemical, and ultrastructural studies showed that 70% of the colonies consisted of cells with giant lysosomes typical of CHS, and in the remaining 30% abnormal cells were not detected. The supply of granulocyte-macrophage colony-stimulating factor (GM-CSF) by the patient's peripheral blood leukocytes was markedly decreased. Inhibition of normal in vitro granulopoiesis by the patient's lymphocytes or serum was not demonstrated. It appears that granulocyte progenitors in CHS proliferate normally, or even in excess, probably in response to intramedullary destruction of granulocytes. The majority of the progenitors are intrinsically defective and give rise to colonies that contain the abnormality. In others the defects are unidentifiable, probably due to the immaturity of the specific fusion process of the cytoplasmic granules. The abnormal leukocytes in CHS are also defective in their capacity to provide GM-CSF, and this may account in part to the overt neutropenia. These studies demonstrate that the basic cytoplasmic abnormalities of the granulocytes and monocytes in CHS are embedded in the granulocytic-monocytic committed stem cell.- - - - - - - - - - ranking = 6.6638272038157keywords = granulocyte (Clic here for more details about this article) |
7/13. Neutrophil dysfunction associated with states of chronic and recurrent infection.Infants, children, and young adults who suffer chronic and recurrent bacterial or fungal infection despite adequate numbers of circulating granulocytes and normal or elevated levels of immunoglobulins should be suspected of having fundamental defects in granulocyte functioning. This article considers clinical disorders for which there is evidence for associated defects of polymorphonuclear leukocytes.- - - - - - - - - - ranking = 1.9039506296616keywords = granulocyte (Clic here for more details about this article) |
8/13. chediak-higashi syndrome: abnormal lysosomal enzyme levels in granulocytes of patients and family members.Nine lysosomal enzyme activities were examined in granulocytes and lymphocytes from two unrelated patients with chediak-higashi syndrome (CHS) in "accelerated phase" and from their family members. In CHS granulocytes, there was a marked reduction of alpha-mannosidase (E.C. 3.2.1.24), alpha-galactosidase (E.C. 3.2.1.22), and alpha-fucosidase (E.C. 3.2.1.51) activities, which were below 21, 24, and 43% of mean control values, respectively. In CHS lymphocytes, beta-glucuronidase (E.C. 3.2.1.31) and alpha-mannosidase activities were also decreased. In granulocytes of family members, the activities of acid phosphatase (E.C. 3.1.3.2), N-acetyl-beta-glucosaminidase (E.C. 3.2.1.30), aryl sulphatase (E.C. 3.1.6.1), and beta-glucuronidase were significantly higher than the control values (P < 0.001), which were 262, 218, 414, and 180% of mean control values. Neither the inhibitor in CHS granulocytes nor the activator in the heterozygous granulocytes to those enzymes could be found by mixing experiments with normal ones.- - - - - - - - - - ranking = 8.5677778334773keywords = granulocyte (Clic here for more details about this article) |
9/13. Electron microscopic and peroxidase cytochemical analysis of pink pseudo-Chediak-Higashi granules in acute myelogenous leukemia.Giant round pink inclusions (congruent to 2 micrometers) were seen in neutrophilic myeloblasts, promyelocytes, and myelocytes from three patients with acute myelogenous leukemia. On preliminary examination of the bone marrow smears, these inclusions looked like ingested red blood cells in that they were pink and not azurophilic. The bone marrow specimens were processed for the electron microscopic demonstration of peroxidase with 3,3'-diaminobenzidine and H2O2 at pH 7.6. In all three cases, the inclusions were determined to be large peroxidase-positive granules since they were limited by a single unit membrane and, unlike endocytized red blood cells, were not contained within phagocytic vasuoles. The granules were homogeneously dense for peroxidase and showed no obvious crystalline structure when examined stained or unstained on grid. We believe that they correspond to the giant pink round granules Van Slyck and Rebuck observed in immature leukemic granulocytes in 1974 and termed the pseudo-Chediak-Higashi anomaly. Like the giant purple granules seen in leukemia with this anomaly, these granules also appear to be an abnormal variant of peroxidase-positive azurophil (primary) granules. Their lack of azurophilia is due to the absence of sulfated glycoaminoglycans.- - - - - - - - - - ranking = 0.95197531483082keywords = granulocyte (Clic here for more details about this article) |
10/13. High plasma, erythrocyte, lymphocyte and granulocyte zinc concentrations in a patient with the chediak-higashi syndrome.zinc determinations were made in a 5 month-old female with the chediak-higashi syndrome. zinc concentrations in plasma, erythrocytes, lymphocytes and granulocytes from the patient were significantly higher than those in healthy children of a similar age, and were higher than--or equal to--those of healthy adults. Lymphocyte zinc levels in the parents were significantly lower than those of healthy adults. Although the cause of the high zinc concentrations in these samples cannot be fully explained , abnormally high zinc levels may be partially responsible for impairment of some leukocyte functions in patients with CHS since zinc plays a central role in cellular metabolism.- - - - - - - - - - ranking = 4.7598765741541keywords = granulocyte (Clic here for more details about this article) |
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