Chediak-Higashi Syndrome

If you are looking to learn more about disorders of the nervous and immune systems, you might want to read about Chediak-Higashi syndrome, which appears in children. Chediak-Higashi syndrome is a very rare recessive and autosomal disease that is associated with the nervous and immune systems. In order for a child to inherit the disorder, it is necessary for both parents to contribute in the problematic gene.

Chediak-Higashi syndrome is caused by CHS1 gene mutations. The main defect results from granules that exist in some types of white blood cells, and also in skin cells. Granule defects (particularly from white blood cells) can often lead to serious problems with the immune system.

One of the most common signs of Chediak-Higashi syndrome is Albinism, which is characterized by excessively pale skin, hair and eyes. The hair might also have a subtle silvery sheen, as well. Other common symptoms Chediak-Higashi syndrome are nystagmus (jerky motions of the eyes), reduced vision, blood clotting problems, mental retardation, tremors, unusually easy bruising, nosebleeds, unsteady walking, clumsiness, weakness of the muscles, bright light sensitivity, nerve issues, seizures and higher chance of infection of the mucous membranes, skin and lungs.

Chediak-Higashi syndrome is extremely rare. Less than 200 individuals have been reported officially as having the syndrome, internationally. No specific treatment option is available for Chediak-Higashi syndrome. For some sufferers, bone marrow transplants have been effective. For accelerated stages of the disease, antiviral chemotherapy medications are commonly used. Children with Chediak-Higashi syndrome tend to die before reaching 10 years of age, although in some cases, children have lived longer.