Chediak-Higashi syndrome

Below you will find more information about Chediak-Higashi syndrome from Medigest. If you believe that you are suffering from any of the symptoms of Chediak-Higashi syndrome it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Chediak-Higashi syndrome and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Chediak-Higashi syndrome comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Chediak-Higashi syndrome is an inherited disease that attacks the nervous and immune systems which results to pale-colored eyes, hair and skin.


At present there is still no specific cure or treatment for the Chediak-Higashi syndrome, but bone marrow transplants are recommended to patients especially when the disease has just started to develop. Medications such as antibiotics are prescribed to cure infections, and drugs like acyclovir and other chemotherapy drugs are used when the disease has already matured. Some patients meanwhile need to undergo surgery in order to drain abscesses in the brain.

Symptoms and Signs

Children with Chediak-Higashi syndrome are found to have: jerky movements of the eyes albinism increased lung, skin, and mucous membrane infection Because the Chediak-Higashi syndrome involves the immune system, children with the disease are susceptible to viruses such as Epstein-Barr virus, which can lead to a fatal blood cancer-like illness. Other symptoms of the disease are: poor eyesight mental retardation weakness in the muscles peripheral neuropathy tremor seizures numbness photophobia ataxia Other signals of the Chediak-Higashi syndrome are found after medical examination. The examination results may display signs of jaundice or a swollen liver or spleen. Giant granules in the white blood cells are also to be found in blood smear, and the granules can also be detected in muscles, nerves and skin after biopsy. Platelet count would be suprisingly low, and finally, genetic tests would result to mutations in the CHS1 gene.


The syndrome is an autosomal recessive disease and is passed through generations due to a mutation found in the LYST or CHS1 gene. The main result of this genetic defect is that it forms granules in white blood cells and skin pigment cells. The granules then hamper the production of melanin in the skin making one's skin color pale or pigmented. Also, the granules reduce the strength of white blood cells causing defects in the immune system.

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