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Chediak-higashi Syndrome Pictures

What is Chediak-higashi Syndrome?

Chediak-Higashi syndrome is rare disease wherein the immune and nervous systems are affected. It is an autosomal recessive disorder that results from a defect in microtubule polymerization. This defect subsequently causes a reduction in phagocytosis. The decrease in phagocytosis leads to partial albinism, persistent pyogenic infections and peripheral neuropathy.

Individuals with Chediak-Higashi syndrome are characterized by pale-colored skin hair and eyes. Besides humans it affects several animals like persian cats, white tigers, etc.

Symptoms of Chediak-Higashi Syndrome

Some of the symptoms of Chediak-Higashi syndrome are as follows:

Light colored eyes and silver hair like an albino
Movements of the eye are random and jerky
Proneness to increased infections of the respiratory tract, the mucous membranes and the skin
Disabilities in intellect including mental retardation
Fragility of the skin leading to easy bruising
Weakness of the muscles
Spasms or tremor
Deficits in eyesight or vision
Limb nerve problems or peripheral neuropathy
Seizures
Nosebleeds
Numbness
Unstable or unsteady walk
Photophobia or sensitivity to bright lights
Jaundice or swollen spleen or liver

Severe cases of Chediak-Higashi syndrome or the accelerated phase of the disease show the following symptoms:

Infection with some viruses, like the Epstein-Barr virus, may result in fatal illness that resemble the blood cancer lymphoma
Fever, uncontrollable infections, incidents of abnormal bleeding and multiple organ failure

Chediak-Higashi Syndrome Causes

Some of the causes of Chediak-Higashi syndrome are listed below:

Mutations of the LYST gene are known to cause the Chediak-Higashi syndrome. The gene performs special functions that help in the breakdown and recycle of toxic substances. Mutations in the gene result in increased infections and multiple organ damage.
Chediak-Higashi syndrome has a genetic basis and hence can be passed on from parents to their children.
Defects in special granules present in the white blood cells and skin pigment cells, cause immune system disorders and deficient skin pigmentation.

Chediak-Higashi Syndrome Treatment

There is no known treatment for Chediak-Higashi syndrome.

Antibiotics are used to treat the infections caused by bacteria or fungi
Antiviral drugs are used during the accelerated phase of Chediak-Higashi syndrome.
Bone marrow transplants have a good rate of success with the disorder
In some cases the abscesses may be drained through surgical intervention.

Support groups for Chediak-Higashi syndrome

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