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
- 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
Chediak-higashi Syndrome Pictures
Chediak-higashi Syndrome Picture 1 : Partial albinism and greyish hair
Picture Source : © scielo.br
Chediak-higashi Syndrome Picture 2: It prevents the normal formation of the vesicles
Photo 2 : © zahniser.net