Chediak-Higashi syndrome

被引：4

作者：

Wolf J. ^{[1
,4
]}

Jacobi C. ^{[2
]}

Breer H. ^{[3
]}

Grau A. ^{[1
]}

机构：

[1] Neurologische Klinik, Klinikum der Stadt Ludwigshafen

[2] Neurologische Klinik, Universitätsklinikum Heidelberg

[3] Zentralinstitut für Röntgendiagnostik, Klinikum der Stadt Ludwigshafen

[4] Neurologische Klinik, Klinikum der Stadt Ludwigshafen, 67063 Ludwigshafen

来源：

Der Nervenarzt | 2006年 / 77卷 / 2期

关键词：

Chediak-Higashi syndrome; Lysosomal disorder; Oculocutaneous albinism; Parkinsonism; Polyneuropathy;

D O I：

10.1007/s00115-005-1989-3

中图分类号：

学科分类号：

摘要：

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism, high bleeding tendency, and various neurological symptoms. Onset in early childhood mostly leads to lymphohistiocytic infiltration into multiple organs, which is usually lethal without bone marrow transplantation. The adult form of CHS has a milder course, no lymphohistiocytic infiltration, and is characterized by neurological manifestations such as polyneuropathy, parkinsonism, dementia, and ataxia. In young adults, a combination of these defects with oculocutaneous albinism or recurrent infections should bring CHS into consideration. Diagnosis is established by the presence of characteristic eosinophilic peroxidase-positive giant granules in leukocytes. This article summarizes current knowledge about the pathogenesis, clinical course, and therapy of CHS and reports on experience with two adult CHS patients. © Springer Medizin Verlag 2005.

引用

页码：148 / 157

页数：9

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