Chediak-Higashi syndrome is rare disease of the immune and nervous systems that involves by pale-colored hair, eyes, and skin.
Causes, incidence, and risk factors
Chediak-Higashi syndrome is passed down through families (inherited). It is an autosomal recessive disease. This means that both parents must pass the faulty gene to the child to show symptoms of the disease.
Defects have been found in the CHS1 (also called LYST) gene. The primary defect in this disease is found in certain substances normally present in skin cells and certain white blood cells.
Children with this condition may have:
Silver hair, light-colored eyes (albinism)
Increased infections in the lungs, skin, and mucous membranes
The doctor will perform a physical exam. This may show signs of a swollen spleen or liver or jaundice.
Tests that may be done include:
Complete blood count, including white blood cell count
Blood platelet count
Blood culture and smear
Brain MRI or CT
Nerve conduction tests
There is no specific treatment for Chediak-Higashi syndrome. Bone marrow transplants appear to have been successful in several patients, especially when performed early in the disease.
Antibiotics are used to treat infections. Antiviral drugs such as acyclovir and chemotherapy drugs are often used in the accelerated phase of the disease. Surgery may be needed to drain abscesses in some cases.
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.
Frequent infections especially with Epstein-Barr virus
Calling your health care provider
Call your health care provider if you have a family history of this disorder and you are planning to have children.
Call for an appointment with your health care provider if your child shows symptoms of Chediak-Higashi syndrome.
Genetic counseling is recommended before becoming pregnant if you have a family history of Chediak-Higashi.
Boxer LA. Disorders of Phagocyte Function. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 129.
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.