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

Chediak-higashi Syndrome Pictures

Chediak-Higashi Syndrome pictures

Chediak-higashi Syndrome Picture 1 : Partial albinism and greyish hair

Picture Source : © scielo.br

 

Chediak-Higashi Syndrome

Chediak-higashi Syndrome Picture 2: It prevents the normal formation of the vesicles

Photo 2 : © zahniser.net

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