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Das Chediak-Higashi-Syndrom

Chediak-Higashi syndrome

Der Nervenarzt volume 77, pages 148–157 (2006)Cite this article

Zusammenfassung

Das Chediak-Higashi-Syndrom (CHS) ist eine seltene autosomal rezessiv vererbte lysosomale Speicherkrankheit. Typische Symptome sind rezidivierende Infekte, ein okulokutaner Albinismus, vermehrte Blutungsneigung und neurologische Ausfälle. Die infantile Form dieser Erkrankung führt häufig zu einer lymphohistiozytären Infiltration multipler Organe und verläuft ohne Knochenmarktransplantation letal, während die adulte Form des CHS einen gutartigeren Verlauf nimmt. Hier stehen neurologische Störungen wie Polyneuropathie, Parkinson-Syndrom, Demenz und Ataxie im Vordergrund. Im jungen Erwachsenenalter sollte eine Kombination dieser neurologischen Ausfälle mit einem okulokutanen Albinismus oder rezidivierenden Infekten an ein CHS denken lassen. Diagnostisch wertvoll ist ein Blutausstrich mit eosinophilen, peroxidasepositiven Riesengranula in Leukozyten. In unserem Artikel fassen wir die derzeitigen Kenntnisse über diese Erkrankung zusammen und berichten über eigene Erfahrungen mit zwei adulten CHS-Patienten.

Summary

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.

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Affiliations

  1. Neurologische Klinik, Klinikum der Stadt Ludwigshafen

    J. Wolf & A. Grau

  2. Neurologische Klinik, Universitätsklinikum Heidelberg

    C. Jacobi

  3. Zentralinstitut für Röntgendiagnostik, Klinikum der Stadt Ludwigshafen

    H. Breer

  4. Neurologische Klinik, Klinikum der Stadt Ludwigshafen, Bremserstraße 79, 67063, Ludwigshafen, Deutschland

    J. Wolf

Authors
  1. J. Wolf
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  2. C. Jacobi
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  3. H. Breer
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  4. A. Grau
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Correspondence to J. Wolf.

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Wolf, J., Jacobi, C., Breer, H. et al. Das Chediak-Higashi-Syndrom. Nervenarzt 77, 148–157 (2006). https://doi.org/10.1007/s00115-005-1989-3

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  • DOI: https://doi.org/10.1007/s00115-005-1989-3

Schlüsselwörter

  • Chediak-Higashi-Syndrom
  • Lysosomale Störung
  • Polyneuropathie
  • Parkinson-Syndrom
  • Okulokutaner Albinismus

Keywords

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