Neuropathological Changes in Chédiak-Higashi Disease

Sung, Ju-Heon; Meyers, Julie; Stadlan, Emanuel M.; Cowen, David; Wolf, Abner

doi:10.1097/00005072-196901000-00005

Cited by 67 publications

(22 citation statements)

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“…Neuronal degeneration and atrophy are usually absent in childhood CHS. 7,8 In adult cases, imaging studies of the brain may be normal or demonstrate atrophy. Cerebellar atrophy was identified on computed tomography in one case 9 and on MRI in another.…”

Section: Discussionmentioning

confidence: 99%

Adult Chediak-Higashi Parkinsonian syndrome with dystonia

et al. 2000

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Section: Discussionmentioning

confidence: 99%

Adult Chediak-Higashi Parkinsonian syndrome with dystonia

et al. 2000

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“…Ataxia, loss of power, decrease at motor conduction may be added to the list. 17,18 Motor development and examination of our case was normal. There was no specific treatment for CHS.…”

Section: Discussionmentioning

confidence: 55%

“…18 In some cases, motor and sensual damages may form. Ataxia, loss of power, decrease at motor conduction may be added to the list.…”

Section: Discussionmentioning

confidence: 99%

A Case of Chediak-Higashi Syndrome Presented with Hemophagocytic Lymphohistiocytosis

Akbayram¹

2011

UHOD

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Chediak Higashi syndrome, is a rare autosomal recessive disorder characterised by oculocutaneus albinism, recurrent respiratory system infections and other pyogenic infections. Hemophagocytic lymphohistiocytosis can develop in any time of the life in patients with Chediak Higashi syndrome. A 14-month-old girl patient was diagnosed as hemophagocytic lymphohistiocytosis with the laboratory findings of pancytopenia, high levels of triglyceride and ferritin, hypofibrinogenemia, low ratio of natural killers in lymphocyte subtypes, and with determined macrophages that made hemophagocytosis in recurrent bone marrow aspirates. The treatment protocol of hemophagocytic lymphohistiocytosis 2004 was administered. During the maintenance treatment, recurrence was developed. In the second bone marrow examination, the diagnosis of Chediak Higashi syndrome was made with determined intracytoplasmic giant granules. Hair analysis result was meaningful for Chediak Higashi syndrome. In this report, we would like to emphasize the condition that especially in early infants, Chediak Higashi syndrome presenting with hemophagocytic lymphohistiocytosis may be misdiagnosed because of the uncertain clinical findings and this can be the result of resistance to treatment. Keywords: Albinism, Chediak Higashi syndrome, Hemophagocytic lymphohistiocytosis ÖZET Hemofagositik Lenfohistiositoz Klini¤i ile Prezente Chediak-Higashi Sendromu OlgusuChediak Higashi sendromu (CHS) nadir görülen otozomal resesif bir hastal›kt›r. Hastal›k okülokutanöz albinizm ile tekrarlayan solunum sistemi ve di¤er piyojenik enfeksiyonlar ile karekterizedir. CHS'li hastalarda hayat›n herhangi bir döneminde hemofagositik lenfohistiositoz geliflebilir. On dört ayl›k k›z hasta pansitopeni, trigliserit ve ferritin düzeylerinin yüksek olmas›, hipofibrinojenemi, lenfosit alt tiplendirmesinde do¤al öldürücü hücre oranlar›n›n düflük gelmesi ve tekrarlayan kemik ili¤i incelemesinde hemofagositoz yapm›fl makrofajlar görülmesi üzerine hemofagositik lenfohistiositoz olarak kabul edildi. Hemofagositik lenfohistiositoz (HLH 2004) tedavi protokolü baflland›. Olgu idame tedavisi aflamas›nda iken nüks etti. ‹kinci kemik ili¤i incelemesinde intrastoplazmik dev granüllerin görülmesi ile CHS tan›s› kondu. Bak›lan saç analizi CHS ile uyumlu bulundu. Bu makale ile hemofagositik lenfohistiositoz tan›s›nda özellikle erken bebeklikte klini¤in tam olarak ortaya ç›kmamas› nedeni ile CHS'nin atlanababilece¤i ve bu olgular›n tedaviye dirençlerinin önemli bir problem oluflturdu¤unun vurgulanmas› amaçlan-m›flt›r.

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“…Finally, patients also present with progressive neurologic dysfunction, including motor and sensory neuropathies, ataxia, and progressive neurodegeneration. In advanced stages, CHS can also lead to parkinsonism and dementia (Sung and Stadlan 1968;Sung et al 1969;Hirano et al 1971;Misra et al 1991;Tardieu et al 2005;Kaplan et al 2008;Lozano et al 2014).…”

Section: Associated Disorders Of Lyst Mutationsmentioning

confidence: 99%

“…These forms of CHS manifest as subtle alterations of pigmentation, a lower frequency of infections, mild bleeding tendencies and no accelerated phase. These patients can survive until adulthood but they develop neurologic dysfunctions including intellectual deficits, peripheral neuropathy, balance abnormalities, tremors, parkinsonism and dementia (Sung and Stadlan 1968;Sung et al 1969;Hirano et al 1971;Misra et al 1991;Tardieu et al 2005;Kaplan et al 2008;Lozano et al 2014).…”

Section: Associated Disorders Of Lyst Mutationsmentioning

confidence: 99%

Lysosomal Trafficking Regulator (LYST)

Chang

Naggert

et al. 2015

Advances in Experimental Medicine and Biology

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Regulation of vesicle trafficking to lysosomes and lysosome-related organelles (LROs) as well as regulation of the size of these organelles are critical to maintain their functions. Disruption of the lysosomal trafficking regulator (LYST) results in Chediak-Higashi syndrome (CHS), a rare autosomal recessive disorder characterized by oculocutaneous albinism, prolonged bleeding, severe immunodeficiency, recurrent bacterial infection, neurologic dysfunction and hemophagocytic lympohistiocytosis (HLH). The classic diagnostic feature of the syndrome is enlarged LROs in all cell types, including lysosomes, melanosomes, cytolytic granules and platelet dense bodies. The most striking CHS ocular pathology observed is an enlargement of melanosomes in the retinal pigment epithelium (RPE), which leads to aberrant distribution of eye pigmentation, and results in photophobia and decreased visual acuity. Understanding the molecular function of LYST and identification of its interacting partners may provide therapeutic targets for CHS and other diseases associated with the regulation of LRO size and/or vesicle trafficking, such as asthma, urticaria and Leishmania amazonensis infections.

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Neuropathological Changes in Chédiak-Higashi Disease

Cited by 67 publications

References 0 publications

Adult Chediak-Higashi Parkinsonian syndrome with dystonia

Adult Chediak-Higashi Parkinsonian syndrome with dystonia

A Case of Chediak-Higashi Syndrome Presented with Hemophagocytic Lymphohistiocytosis

Lysosomal Trafficking Regulator (LYST)

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