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Chediak Higashi Syndrome Learning Center

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Welcome

Chediak-Higashi syndrome is an inherited disorder of the immune system that results in chronic infection, decreased pigmentation in skin and eyes, neurological disease, and early death.

Basic Info

Symptoms
Children with this condition may have: Albinism - silvery sheen to the hair, light-colored eyes; Jerky eye movements (n...
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Causes
Chediak-Higashi is inherited, which means it is passed down through families. It is an autosomal recessive disease. Mut...
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Tests
The doctor will perform a physical exam. Examination may show signs of a swollen spleen or liver or jaundice. A blood s...
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Treatments
There is no specific treatment for Chediak-Higashi syndrome. Bone marrow transplants appear to have been successful in ...
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Drugs
  • acyclovir
  • colchicine
  • vinCRIStine
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Alternative Therapies
Chediak-Higashi Syndrome Association - www.chediak-higashi.org
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Complications
Frequent infections especially with Epstein-Barr virus; Lymphoma-like cancer; Early death.
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Prevention
Genetic counseling is recommended for prospective parents with a family history of Chediak-Higashi. Prenatal diagnosis ...
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Doctor Specialties
Call your health care provider if you have a family history of this disorder and you are planning to have children. Cal...
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Basic Info

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Chediak-Higashi syndrome
Chediak-Higashi Syndrome
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Birth Defects Quiz
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Chediak Higashi Syndrome
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