1/104. Accelerated phase of chediak-higashi syndrome diffuse white-matter-enhancing lesions. We present the CT and MRI findings of a patient with chediak-higashi syndrome in the accelerated phase with marked white-matter abnormalities. Pathologic and clinical features allow diagnosis of this condition, which in this case had dramatic neuroradiographic manifestations not well described in previous reports. ( info) |
| chediak-higashi syndrome is a rare hematological disease characterized by increased fusion of cytoplasmatic granules. Neurological symptoms occur in approximately half of the patients. We describe the clinical, eletrophysiological, hematological and radiological findings in a girl who had chediak-higashi syndrome and seizures. ( info) |
3/104. 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. ( info) |
4/104. chediak-higashi syndrome associated with maternal uniparental isodisomy of chromosome 1. chediak-higashi syndrome (CHS) is a rare autosomal recessive disorder (incidence around 1 in 106 births), characterised by a complex immunologic defects, reduced pigmentation, and presence of giant granules in many different cell types. It most likely results from defective organellar trafficking or protein sorting. The causative gene (LYST) has recently been identified and shown to be homologous to the beige locus in the mouse. CHS has always been reported associated with premature-termination-codon mutations in both alleles of LYST. We report a unique patient with CHS, who was homozygous for a stop codon in the LYST gene on chromosome 1 and who had a normal 46,XY karyotype. The mother was found to be a carrier of the mutation, whereas the father had two normal LYST alleles. Non-paternity was excluded by the analysis of microsatellite markers from different chromosomes. The results of 13 informative microsatellite markers spanning the entire chromosome 1 revealed that the proband had a maternal isodisomy of chromosome 1 encompassing the LYST mutation. The proband's clinical presentation also confirms the absence of imprinted genes on chromosome 1. ( info) |
| 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. ( info) |
6/104. Long-term follow-up of periodontitis in a patient with chediak-higashi syndrome. A case report. chediak-higashi syndrome (CHS) is an extremely rare hereditary disease characterized by leukocyte dysfunction. We report on a 21-year-old woman who presented at the age 9 years with CHS and serious periodontal tissue destruction around erupted teeth. The patient had received systemic, radiographic, immunological, microbial, and clinical periodontal examinations since childhood. The chemotactic activity of neutrophils in the Boyden chamber assay was 22% of the control, and leukocyte bactericidal activity was one-third of the control. actinobacillus actinomycetemcomitans, porphyromonas gingivalis, and prevotella intermedia were isolated from periodontal pockets. Periodontal treatment including oral hygiene was provided, followed by professional tooth cleaning from the age of 12 to 21 years. However, the mobility of teeth and the inflammation of periodontal tissue progressed. This CHS patient presented with periodontal disease of extremely early onset, which was resistant to periodontal treatment. ( info) |
| chediak-higashi syndrome (CHS) is a rare autosomal recessive disease characterized by partial albinism and large granules in all granule-containing cells. It is also associated with recurrent pyogenic infections secondary to impaired leukocyte function. Most patients with CHS enter an accelerated phase that leads to repeated infections and bleeding complications, often resulting in death. The first accelerated phase may occur shortly after birth or several years later. There are no curative treatments, and bone marrow transplantation (BMT) is the treatment of choice. Here, we report the case of a boy with CHS. The diagnosis was made at the age of 1 month, on the basis of the characteristic clinical findings and family history. He received BMT from an HLA-matched unrelated donor. After BMT, fluorescent cytometric analysis of polymorphonuclear leukocytes showed normalized cellular granularity and a normal increase in CD11b expression on N-formylmethionyl-leucyl-phenylalanine stimulation. The accelerated phase did not develop during 27 months of follow-up. Without BMT, CHS is usually fatal before the age of 10 years. BMT from an unrelated donor may be an effective treatment option for those who lack sibling donors. In addition to the characteristic leukocytic dysfunctions, fluorescent cytometric analysis of cellular granularity and surface molecules offer useful diagnostic information. ( info) |
8/104. Adult Chediak-Higashi parkinsonian syndrome with dystonia. chediak-higashi syndrome (CHS) is a rare autosomal-recessive disorder characterized by immune deficiency, partial oculocutaneous albinism, and large eosinophilic, peroxidase-positive inclusion bodies in granule-containing cells. The adult form of CHS manifests during late childhood to early adulthood and is marked by various neurologic sequelae, including parkinsonism, dementia, spinocerebellar degeneration, and peripheral neuropathy. We report the case of a 29-year-old man with adult CHS who exhibited a progressive asymmetric parkinsonism, including rest tremor, and axial, cervical, and appendicular dystonia. The diagnosis was confirmed by the presence of characteristic large peroxidase-positive granules within leukocytes and markedly decreased natural killer cell function. levodopa/carbidopa and amantadine provided benefit for tremor. CHS, although rare, should be considered in the differential diagnosis of young adult parkinsonism. ( info) |
| A case of chediak-higashi syndrome is reported in a four-year-old boy who presented with recurrent chest infection, partial albinism, hyperpigmentation of the extremities and presence of giant granules in leucocytes and melanocytes in the skin. Parental consanguinity was present. Though uncommon, hyperpigmentation of sun exposed areas may be the initial symptom in chediak-higashi syndrome. ( info) |
| Chediak Higashi anomaly is a very rare disorder in which patients suffer frequent and severe pyogenic infections that are secondary to abnormal functions of polymorphonuclear leukocytes, associated with albinism and bleeding tendency. Blume RS and Wolff SM (1972) reported that only 59 cases were diagnosed after the first description of chediak-higashi syndrome in 1943 by Cesar AB (cited by Wintrobe MM Clinical Haematology). As per recent literature available (internet) last case was reported on 16th July, 1997. ( info) |