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Archive » 2013 » 2 » | Archive » Medical field » Fields » Human Genetics » Archive » Medical field » Fields » Internal Medicine »

Chédiak-Higashi Syndrome

 
Abstract:

This post is also available in: enEnglish slSlovenščina (Slovenian)

Chédiak-Higashi syndrome is characterized by varying degrees of oculocutaneous albinism, recurrent infections, bleeding disorders and variable neurological involvement. It is a rare autosomal recessive disorder. The treatment consists of bone marrow transplantation, which corrects the immunologic and hematologic defects. Nevertheless, oculocutaneous and neurological changes persist. Untreated patients die as the result of bacterial infections or develop »accelerated phase« lymphoproliferation.

Authors:
Perčič Simona, Ihan Alojz

Keywords:
Chédiak-Higashi syndrome, clinical description, diagnosis, genetic counseling, treatment

Cite as:
Med Razgl. 2013; 52: 245–53
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