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Madisons Foundation - Moms And Dads In Search Of Needed Support
Chediak-Higashi Syndrome (CHS)
Sunday, 31 August 2003
Last Updated Thursday, 16 February 2006
What
Chediak Higashi Syndome (CHS) is a genetic disorder, most commonly occurring in childhood that affects multiple systems of the body including the immune system, platelets, skin, hair and eye color, and the nervous system. It is an immune system disorder characterized by abnormal movement of proteins within cells which causes delayed or irregular function of different cells in the body.Who
CHS is transmitted in an autosomal recessive manner. This requires each parent to pass on a defective gene. If a child inherits only one defective gene, he or she will become a carrier but will not have CHS. If both parents are carriers, there is a 25% chance with each pregnancy that the child will have CHS. It affects males and females equally and is rare in the United States. It is not contagious, and many carriers do not know about their genetic pattern until they have a child with this disease.Signs and Symptoms
CHS affects multiple organ systems and has a constellation of symptoms. At birth, the child may appear to be fair skinned with light blond hair, light colored eyes, decreased vision, and may be sensitive to light. Soon after birth, severe gum inflammation, mouth sores, and recurrent skin infections and pneumonias may occur. In addition, one may notice easy bruising, frequent nosebleeds, and prolonged bleeding. Later in life, neurological symptoms such as decreased walking ability, seizures, paresthesias (abnormal burning or prickling sensations), peripheral neuropathy (decreased sensation), and mental retardation may be seen. Greater than 80% of children will undergo an accelerated phase which resembles lymphoma and consists of lymphocytes (white blood cells) replicating and invading various organs in the body. This is usually preceded by a viral infection, particularly the Epstein-Barr virus.Possible Causes
In CHS, a defect in the CHS1/LYST gene located on chromosome 1 causes a defective protein product which in turn leads to abnormal synthesis, storage, and/or secretion of granules in certain types of cells. As a result of this defective gene, the body’s immune cells (especially neutrophils and natural killer cells), platelets (blood products involved in forming clots), melanocytes (cells responsible for producing color in the skin and eyes), and nerve cells are unable to function properly.Diagnosis
The diagnosis of CHS may be suspected in young children with recurrent skin and lung infections, light color skin and vision abnormalities, and severe mouth sores. The disease is frequently first recognized when a routine blood cell count is done and abnormal looking white blood cells are noticed. Similar abnormal looking cells are found in the bone marrow. In addition, one can be tested for the CHS1/LYST gene defect.Treatment
bone marrow transplant from a matched sibling is the current treatment of choice and should be performed early. Although it alleviates the immune problems and the accelerated phase, it does not prevent the development of neurological symptoms. For children with the accelerated phase, cancer chemotherapy medications like vincristine and vinblastine can be used. These help limit the progression of the accelerated phase. Other medications that have been used include gamma globulin, acyclovir and colchicine. Antibiotics are used as needed for the skin and lung infections that occur. Surgical drainage or removal of skin infections may be useful. In general, children should stay away from activities with physical collisions like contact sports, and avoid taking aspirin because of their prolonged bleeding tendency. They may also need to see specialists including Ophthalmology, Hematology, and Neurology for further care. Currently there is no cure for CHS, but research is ongoing.Prognosis
CHS usually leads to death within the first decade of life from skin or respiratory infections, the accelerated phase of the disease, or bleeding. Individuals who survive past the age of 10 years often have neurological symptoms as described above. With bone marrow transplantation, survival is improved and there are less immune system, bleeding and accelerated phase problems, although children still develop neurologic problems eventually.Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.Weblinks
Chediak Higashi Syndrome Association (also for support groups)
This website offers a brief description of the disease, a link to Hermansky-Pudlak Syndrome (which is also a form of albinism) and a request link for more information.
National Organization for Albinism and Hypopigmentation
This website contains information on albinism, some focused to children and students, plus events, projects and related links.