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A.D.A.M. Medical Encyclopedia [Internet]. Atlanta (GA): A.D.A.M.; 2013.

A.D.A.M. Medical Encyclopedia.

Chediak-Higashi syndrome

Last reviewed: September 8, 2013.

Chediak-Higashi syndrome is a rare disease of the immune and nervous systems that involves pale-colored hair, eyes, and skin.

Causes, incidence, and risk factors

Chediak-Higashi syndrome is passed down through families (inherited). It is an autosomal recessive disease. This means that both parents are carriers of a non-working copy of the gene, and each parent must pass their non-working gene to the child for them to show symptoms of the disease.

Defects have been found in the CHS1 (also called LYST) gene. The primary defect in this disease is found in certain substances normally present in skin cells and certain white blood cells.

Symptoms

Children with this condition may have:

Infection of affected children with certain viruses, such as Epstein-Barr virus (EBV), can cause a deadly illness resembling the blood cancer lymphoma.

Other symptoms may include:

Signs and tests

The doctor will perform a physical exam. This may show signs of a swollen spleen or liver or jaundice.

Tests that may be done include:

  • Complete blood count, including white blood cell count
  • Blood platelet count
  • Blood culture and smear
  • Brain MRI or CT
  • EEG
  • EMG
  • Nerve conduction tests

Treatment

There is no specific treatment for Chediak-Higashi syndrome. Bone marrow transplants appear to have been successful in several patients, especially when performed early in the disease.

Antibiotics are used to treat infections. Antiviral drugs such as acyclovir and chemotherapy drugs are often used in the accelerated phase of the disease. Surgery may be needed to drain abscesses in some cases.

Support Groups

Chediak-Higashi Syndrome Association -- www.chediak-higashi.org

Expectations (prognosis)

Death often occurs in the first 10 years of life, from chronic infections or accelerated disease that results in lymphoma-like illness. However, some affected children have survived longer.

Complications

  • Frequent infections especially with Epstein-Barr virus
  • Lymphoma-like cancer
  • Early death

Calling your health care provider

Call your health care provider if you have a family history of this disorder and you are planning to have children.

Call for an appointment with your health care provider if your child shows symptoms of Chediak-Higashi syndrome.

Prevention

Genetic counseling is recommended before becoming pregnant if you have a family history of Chediak-Higashi.

References

  1. Introne WJ, Westbroek W, Golas GA, et al. Chediak-Higashi Syndrome. 2009 Mar 3 [Updated 2012 Feb 16]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013.

Review Date: 9/8/2013.

Reviewed by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.

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The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only — they do not constitute endorsementscof those other sites. © 1997–2011 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

Copyright © 2013, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only — they do not constitute endorsementscof those other sites. © 1997–2011 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

Copyright © 2013, A.D.A.M., Inc.

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