Definition of Chediak-Higashi syndrome
Chediak-Higashi syndrome is rare, inherited disease of the immune and nervous systems characterized by pale-colored hair, eyes, and skin.
Causes, incidence, and risk factors
Chediak-Higashi is inherited, which means it is passed down through families. It is an autosomal recessive disease. This means that both parents must contribute a faulty gene for the child to show symptoms of the disease.
Children with this condition may have:
Signs and tests
The doctor will perform a physical exam. Examination may show signs of a swollen spleen or liver or jaundice.
There is no specific treatment for Chediak-Higashi syndrome. appear to have been successful in several patients, especially when performed early in the disease.
Death often occurs in the first 10 years of life, from chronic infections or accelerated disease that results in lymphoma-like illness. However, some affected children have survived longer.
Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 8/26/2009