Chediak-Higashi Syndrome Presented as Accelerated Phase in a 3 Year Girl Child: Case Report of a Rare Entity

Sen, Rajeev

doi:10.4172/2165-7920.1000275

Cited by 1 publication

(7 citation statements)

References 3 publications

(7 reference statements)

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“…CHS has clinical characteristics related to the hematological, immunological, and neurological systems 15 . Patients may experience prolonged bleeding, bruising, and petechiae, since platelets have abnormal dense bodies -which contain serotonin, adenosine triphosphate, adenosine diphosphate, pyrophosphate, and calcium -although they may be in an appropriate number.…”

Section: Pathological Aspects and Clinical Profilementioning

confidence: 99%

“…Polymorphonuclear leukocytes and macrophages show reduced chemotaxis and delayed fusion of phagosomes with lysosomes 13 . As for neutrophils, there is a decrease in deformability and poor mobilization of bone marrow, with neutropenia 8,15 . Both NK cells 15 and B cells have their function reduced 6 .…”

Section: Pathological Aspects and Clinical Profilementioning

confidence: 99%

“…As for neutrophils, there is a decrease in deformability and poor mobilization of bone marrow, with neutropenia 8,15 . Both NK cells 15 and B cells have their function reduced 6 . T cells have defective cytotoxic activity 13,16 attributable to the inability to secrete granules containing perforin and granzyme 6 , and there is a delay in processing and presenting antigens to lymphocytes 6,13 .…”

Section: Pathological Aspects and Clinical Profilementioning

confidence: 99%

“…These events weaken the bactericidal activity of defense cells. Therefore, infections are frequent, mainly bacterial and fungal infections, but they can also be cutaneous or systemic 15 .…”

Section: Pathological Aspects and Clinical Profilementioning

confidence: 99%

“…While awaiting BMT, treatment is aimed at processes resulting from failure of neutrophil function, such as infections and their symptoms. In general, paracetamol is used for fever and amoxicillin to fight infection 15 .…”

Section: Introductionmentioning

confidence: 99%

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Clinical aspects and main diagnostic methods of Chediak-Higashi Syndrome

Oliveira¹,

Colli²

2021

CBR

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Chediak-Higashi syndrome is a disorder caused by a mutation in the LYST gene and characterized by immunodeficiency, oculocutaneous albinism, and neurological dysfunction resulting from changes in neutrophils. Homozygotes die in the first decade of life. The study is a literature review from different sources. We extracted articles published between 2000 and 2018 from SciELO, LILACS, MEDLINE (via PubMed), and Google Scholar databases. Our main objective was to report pathophysiology, clinical presentation, and the most common diagnostic methods. The syndrome affects the hematological and neurological systems, and laboratory diagnosis is first made by the presence of giant granules in leukocytes, mainly neutrophils in peripheral blood and bone marrow. A definitive diagnosis is made by cytochemical reaction (myeloperoxidase) and detection of mutation by molecular methods.

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Section: Pathological Aspects and Clinical Profilementioning

confidence: 99%

Section: Pathological Aspects and Clinical Profilementioning

confidence: 99%

Section: Pathological Aspects and Clinical Profilementioning

confidence: 99%

“…These events weaken the bactericidal activity of defense cells. Therefore, infections are frequent, mainly bacterial and fungal infections, but they can also be cutaneous or systemic 15 .…”

Section: Pathological Aspects and Clinical Profilementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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