Chediak-Higashi syndrome is a rare disease of the immune and nervous systems. It involves pale-colored hair, eyes, and skin.
Chediak-Higashi syndrome is passed down through families (inherited). It is an autosomal recessive disease. This means that both parents are carriers of a non-working copy of the gene. Each parent must pass their non-working gene to the child for them 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
- Jerky eye movements (nystagmus)
Infection of affected children with certain viruses, such as Epstein-Barr virus (EBV), can cause a deadly illness resembling the blood cancer lymphoma.
Other symptoms may include:
- Decreased vision
- Intellectual disability
- Muscle weakness
- Nerve problems in the limbs (peripheral neuropathy)
- Nosebleeds or easy bruising
- Sensitivity to bright light (photophobia)
- Unsteady walking (ataxia)
Exams and Tests
The health care provider 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 performed early in the disease appear to have been successful in several patients.
Antibiotics are used to treat infections. Antiviral drugs, such as acyclovir, and chemotherapy drugs are often used in the accelerated phase of the disease. Blood and platelet transfusions are given as needed. Surgery may be needed to drain abscesses in some cases.
Chediak-Higashi Syndrome Association: www.chediak-higashi.org
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.
Complications may include:
- Frequent infections, especially with EBV
- Lymphoma-like cancer
- Early death
When to Contact a Medical Professional
Call your provider if you have a family history of this disorder and you are planning to have children.
Talk to your 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.
Introne WJ, Westbroek W, Golas GA, et al. Chediak-Higashi syndrome. Gene Reviews. Seattle, WA: University of Washington. 2015;2. PMID: 20301751 www.ncbi.nlm.nih.gov/pubmed/20301751. Accessed August 1, 2015.
Reviewed By:Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
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