Four cases of Chédiak-Higashi syndrome

Azambuja, Ana Paula de; Nascimento, Bárbara do; Comar, Samuel Ricardo; Loth, Gisele; Ribeiro, Lisandro; Bonfim, Carmem; Pianovski, Mara Albonei Dudeque; Neto, José Zanis; Malvezzi, Mariester

doi:10.5581/1516-8484.20110084

Cited by 6 publications

(7 citation statements)

References 9 publications

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“…At the Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo -HCFMUSP, DLBCL represents 49.57% of all NHL cases (9) . NHL is the fifth most common type of cancer in Brazil, with an incidence of 55,000 cases and over 26,000 deaths per year (10) .…”

Section: Epidemiologymentioning

confidence: 99%

Pathophysiology and molecular aspects of diffuse large B-cell lymphoma

Gouveia¹,

Siqueira²,

Pereira³

2012

Revista Brasileira De Hematologia E Hemoterapia

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Diffuse large B-Cell lymphoma is the most common subtype of non-Hodgkin lymphoma in the West. In Brazil, it is the fifth cause of cancer, with more than 55,000 cases and 26,000 deaths per year. At Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo - HCFMUSP, diffuse large B-Cell lymphoma represents 49.7% of all non-Hodgkin lymphoma cases. Initially, the classification of non-Hodgkin lymphoma was based on morphology, but advances in immunology and molecular medicine allowed the introduction of a biological classification for these diseases. As for other cancers, non-Hodgkin lymphoma involves patterns of multifactorial pathogenesis with environmental factors, as well as genetic, occupational and dietary factors, contributing to its development. Multiple lesions involving molecular pathways of B-cell proliferation and differentiation may result in the activation of oncogenes such as the BCL2, BCL6, and MYC genes and the inactivation of tumor suppressor genes such as p53 and INK4, as well as other important transcription factors such as OCT-1 and OCT-2. A dramatic improvement in survival was seen after the recent introduction of the anti-CD20 monoclonal antibody. The association of this antibody to the cyclophosphamide, hydroxydaunorubicin, oncovin and prednisolone (CHOP) regimen has increased overall survival of diffuse large B-Cell lymphoma and follicular lymphoma patients by 20%. However, 50% of all diffuse large B-Cell lymphoma patients remain incurable, creating a demand for more research with new advances in treatment. Thus, it is important to know and understand the key factors and molecular pathways involved in the pathogenesis of diffuse large B-Cell lymphoma.

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Section: Epidemiologymentioning

confidence: 99%

Pathophysiology and molecular aspects of diffuse large B-cell lymphoma

Gouveia¹,

Siqueira²,

Pereira³

2012

Revista Brasileira De Hematologia E Hemoterapia

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“…15 These granules are specific to CHS and their presence in granulocytes from peripheral blood and bone marrow is the basis of diagnosis. 16 Clinical CHS phenotypes correlate with molecular genotypes. CHS patients with deletions in the LYST gene usually present with a fulminant accelerated phase early in life, whereas, those with missense mutations have a better prognosis, characterized by the absence of an accelerated phase and no neurological involvement.…”

Section: Discussionmentioning

confidence: 99%

“…1 The clinical features of this syndrome include partial albinism, photosensitivity, severe recurrent bacterial infections, bleeding diathesis and late onset neurological manifestations (central and peripheral neuropathies, sensory loss, muscle weakness, parkinsonism, cerebellar ataxia, and cognitive impairment). 2,3 Approximately 85% of cases develop a fatal accelerated phase characterized by pancytopenia, hemophagocytosis, and marked infiltration of organs by lymphocytes, leading to multi-organ dysfunction. 4 Owing to the rarity of the condition and the characteristic clinical and hematological findings, we report a case of Chediak Higashi syndrome, which presented in accelerated phase.…”

Section: Introductionmentioning

confidence: 99%

Chediak Higashi syndrome presenting in accelerated phase: a case report and literature review

Shravani

Murali

Chandrakala

et al. 2017

Int J Contemp Pediatr

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Chediak Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, bleeding diathesis and progressive neurologic deterioration. In 85% of cases, CHS patients develop the accelerated phase characterized by pancytopenia, high fever, and lymphohistiocytic infiltration of liver, spleen, and lymph nodes. Treatment of accelerated-phase CHS is difficult and the prognosis is poor. Here, we report a case of CHS in a 1-year-old girl who presented in the accelerated phase of the disease. CHS diagnosis was made on the basis of clinical characteristics, hair analysis and identification of pathognomonic giant azurophilic granules in peripheral blood smear.

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“…Острота зрения варьирует от 0,3 до нормальных показателей [40]. Поражение нервной системы проявляется задержкой моторного и психоречевого развития, периферической нейропатией, атаксией, паркинсонизмом и судорогами; при обследовании выявляется снижение глубоких сухожильных рефлексов, снижение скорости нервной проводимости, на МРТ обнаруживается диффузная атрофия головного и спинного мозга, выявляются также гигантские гранулы в шванновских клетках при биопсии [41,42]. При лабораторном исследовании крови отмечаются: гигантские включения в полиморфноядерных нейтрофилах и, в меньшей степени, в лимфоцитах; нормальное или пониженное количество естественных клеток-киллеров с аномально сниженной функцией; нейтропения и нарушение функции нейтрофилов, таких как хемотаксис и внутриклеточная бактерицидная активность; отсутствие или пониженное количество и неправильная морфология плотных гранул тромбоцитов [39].…”

Section: Review Articlesunclassified

Clinical and genetic aspects of albinism

Кадышев¹,

Ryazhskaya²,

Khalanskaya³

et al. 2021

Russian Journal of Clinical Ophthalmology

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Albinism is a clinically and genetically heterogeneous group of hereditary diseases whose pathogenesis is mediated by impaired synthesis of melanin which results in its partial or total loss. Reduced melatonin level clinically manifests as skin, hair, and ocular hypopigmentation. Ocular presentations include hypopigmentation/lack of pigmentation of eye fundus and iris, foveal hypoplasia, low vision, nystagmus and strabismus, photophobia, iris transillumination, and asymmetrical decussation of nerve fibers at the optic chiasm. However, albinism can be a part of more complex genetic syndromes, e.g., Hermansky-Pudlak syndrome or Chediak-Higashi syndrome. These disorders should be identified as early as possible to start therapy to prevent life-threatening conditions. Partial albinism with ocular, skin or hair hypopigmentation not associated with melanogenesis (e.g., Griscelli syndrome, Waardenburg syndrome, Aland Island eye disease, etc.) also occurs. Each case of albinism requires an accurate molecular genetic diagnosis to provide a personalized treatment approach, predict life expectancy and health status, and plan pregnancy. Keywords: albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, hypopigmentation, clinical polymorphism, genetic heterogeneity. For citation: Kadyshev V.V., Ryazhskaya S.A., Khalanskaya O.V. et al. Clinical and genetic aspects of albinism. Russian Journal of Clinical Ophthalmology. 2021;21(3):175–180 (in Russ.). DOI: 10.32364/2311-7729-2021-21-3-175-180.

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Four cases of Chédiak-Higashi syndrome

Cited by 6 publications

References 9 publications

Pathophysiology and molecular aspects of diffuse large B-cell lymphoma

Pathophysiology and molecular aspects of diffuse large B-cell lymphoma

Chediak Higashi syndrome presenting in accelerated phase: a case report and literature review

Clinical and genetic aspects of albinism

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