Cases reported "Chediak-Higashi Syndrome"

Filter by keywords:



Filtering documents. Please wait...

1/25. 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.
- - - - - - - - - -
ranking = 1
keywords = phase
(Clic here for more details about this article)

2/25. bone marrow transplantation from an HLA-matched unrelated donor for treatment of chediak-higashi syndrome.

    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.
- - - - - - - - - -
ranking = 0.6
keywords = phase
(Clic here for more details about this article)

3/25. 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 = 1
keywords = phase
(Clic here for more details about this article)

4/25. Split chimerism after allogeneic bone marrow transplantation in chediak-higashi syndrome.

    chediak-higashi syndrome (CHS) is a hereditary multiorgan disease associated with a lymphoproliferative disorder termed 'accelerated phase' (AP). As AP is often life-threatening, hematopoietic stem cell transplantation has been proposed as the only curative treatment for CHS. Here, we report a 1-year-old Japanese boy with CHS who received an HLA-matched unrelated BMT at the AP stage, which resulted in split chimerism. We evaluated the chimerism status of isolated leukocytes and found that only a limited population of T and NK cells was of donor origin and the majority of these and other hematopoietic cells was of host origin. Clinical outcome was successful, and the patient is currently alive and well, free of AP and serious infections more than 18 months after BMT.
- - - - - - - - - -
ranking = 0.2
keywords = phase
(Clic here for more details about this article)

5/25. Accelerated phase at initial presentation: an uncommon occurrence in chediak-higashi syndrome.

    The authors describe an Indian child, who presented in the accelerated phase of the chediak-higashi syndrome. The disease usually presents in early childhood with recurrent skin and mucosal infections. This patient had subtle pigmentary abnormalities and no family history of the disease, which made the clinical diagnosis difficult. The cytopenias, hepatosplenomegaly, lymphohistiocytic infiltrate in the bone marrow, and the characteristic granules in the leucocytes clinched the diagnosis. This case underscores the importance of a bone marrow examination in patients with unusual presentations of rare disorders.
- - - - - - - - - -
ranking = 1
keywords = phase
(Clic here for more details about this article)

6/25. 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.
- - - - - - - - - -
ranking = 0.4
keywords = phase
(Clic here for more details about this article)

7/25. chediak-higashi syndrome: clinical, hematologic, and immunologic improvement after splenectomy.

    A 10-year-old boy with chediak-higashi syndrome in accelerated phase failed to respond to treatment with ascorbic acid, vincristine, and prednisone. splenectomy resulted in clinical, hematologic, and immunologic improvement: his leukocyte chemotactic and phagocytic functions returned to normal. We suggest that splenectomy be considered in treatment of the accelerated phase of chediak-higashi syndrome unresponsive to other forms of therapy.
- - - - - - - - - -
ranking = 0.4
keywords = phase
(Clic here for more details about this article)

8/25. Griscelli syndrome: Rab 27a mutation.

    An infant with partial albinism was suspected to have chediak-higashi syndrome because two of his elder siblings had albinism and died in childhood following accelerated phase. Detailed investigations of blood, hair and skin of the proband revealed that he had Griscelli syndrome.
- - - - - - - - - -
ranking = 0.2
keywords = phase
(Clic here for more details about this article)

9/25. 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 = 0.2
keywords = phase
(Clic here for more details about this article)

10/25. 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 = 0.2
keywords = phase
(Clic here for more details about this article)
| Next ->


Leave a message about 'Chediak-Higashi Syndrome'


We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.