MedlinePlus Medical Encyclopedia: Chediak-Higashi syndrome

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Chediak-Higashi syndrome

Contents of this page:
Definition Causes, incidence, and risk factors Symptoms Signs and tests Treatment	Support Groups Expectations (prognosis) Complications Calling your health care provider Prevention

Definition

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.

Causes, incidence, and risk factors

Chediak-Higashi is inherited as an autosomal recessive disease. Mutations have been found in the CHS1 gene. The primary defect in this disease is in intracellular granules. For example, a granule that contains melanin is not made properly in skin giving the pigmentary differences in patients. A neutrophil granule defect (an abnormality in the granules found in certain types of white blood cells that are essential for killing some bacteria, fungi, and viruses) causes the immune problems.

This is one of a group of disorders called oculocutaneous albinism which means decreased pigment in the eye and skin. Children who have inherited the disorder have partial albinism when compared to family members. There may be a silvery sheen to their hair, light-colored eyes, jerky eye movements (nystagmus), and increased infections in their lungs, skin and mucus membranes.

More serious than the pigmentation problems are the effects of this disease on the immune and nervous systems of the body. Surviving adults develop unsteady gaits (ataxia) and nerve abnormalities in the limbs (peripheral neuropathy) causing motor and sensory changes and weakness. Infection with certain viruses such as Epstein-Barr virus (EBV) can cause a fatal illness resembling a blood cancer, lymphoma.

Symptoms

Jerky eye movements (nystagmus)
Decreased vision
Sensitivity to bright light (photophobia)
Albinism (a lighter complexion than unaffected family members)
Silvery sheen to hair which may be fair in color
Frequent infections (skin, oral, respiratory)
Mental retardation
Tremor, abnormal walking gait, seizures, numbness
Muscle weakness

Signs and tests

Blood smear that shows giant granules in the white blood cells that are positive with stains for peroxidases
Giant granules are also found in cells from biopsy of skin, muscle, nervous system
Blood platelet or white blood cell levels are abnormally low
Physical examination may show enlarged spleen, liver or jaundice
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 conduction
Presence of red light reflex of the eye (frequently seen in albinism)
Tests show abnormal immune function

Treatment

There is no specific treatment for Chediak-Higashi syndrome. Bone marrow transplants appear to have been successful in several patients. Infections are treated with antibiotics and abscesses are surgically drained when appropriate. Antiviral drugs such as acyclovir have been tried during the terminal phase of the disease. Cyclophosphamide and prednisone have been tried.

Support Groups

Chediak-Higashi Syndrome Association
One South Road
Oyster Bay, New York 11771
516-922-4022
800-789-9477
www.chediak-higashi.org

Expectations (prognosis)

The frequent infections of Chediak-Higashi syndrome cannot be prevented. The terminal phase of the illness is not treatable.

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

Update Date: 8/19/2003

Updated by: Douglas R. Stewart, M.D., Division of Medical Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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