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Chediak-Higashi syndrome is rare, inherited disease of the immune and nervous systems characterized by pale-colored hair, eyes, and skin.

Causes, incidence, and risk factors:

Chediak-Higashi is inherited, which means it is passed down through families. It is an autosomal recessive disease.

Mutations have been found in the CHS1 (also called LYST) gene. The primary defect in this disease is in special granules present in skin pigment cells and certain white blood cells. For example, a granule that contains melanin is not made properly in skin, resulting in decreased skin pigmentation. A defect in granules found in certain types of white blood cells causes immune system problems.


Children with this condition may have:

  • Albinism -- silvery sheen to the hair, light-colored eyes
  • Jerky eye movements (nystagmus )
  • Increased infections in the lungs, skin, and mucous membranes

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

Other symptoms may include:

  • Decreased vision
  • Mental retardation
  • Muscle weakness
  • Nerve problems in the limbs (peripheral neuropathy )
  • Numbness
  • Tremor
  • Seizures
  • Sensitivity to bright light (photophobia)
  • Unsteady walking (ataxia )

Signs and tests:

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

A blood smear shows giant granules in the white blood cells. Giant granules are also found in cells from biopsy of skin, muscle, and nerves.

Blood platelet or white blood cell counts are abnormally low. Genetic testing may show mutations in the CHS1 gene.

EEG may show seizures. Brain MRI or CT scan may show small brain due to atrophy.

EMG or nerve conduction velocity testing may show delayed nerve signaling. Red light reflex of the eye, frequently seen in albinism, is present.


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 because of chronic infections or accelerated disease that results in lymphoma-like illness. However, persons have survived for longer.

  • 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.


Genetic counseling is recommended for prospective parents with a family history of Chediak-Higashi. Prenatal diagnosis may be available for this disease.

Review Date: 7/1/2007
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.

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 endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

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789 Central Avenue, Dover, NH 03820
Phone: (603) 742-5252
Toll free: 1 (877) 201-7100