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Chediak-Higashi syndrome
Chediak-Higashi syndrome is a rare disease of the immune and nervous systems. It involves pale-colored hair, eyes, and skin.
Causes
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.
Autosomal recessive
Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...
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.
Symptoms
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
)
Nystagmus
Nystagmus is a term to describe fast, uncontrollable movements of the eyes that may be:Side to side (horizontal nystagmus)Up and down (vertical nysta...
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Infection of affected children with certain viruses, such as Epstein-Barr virus ( EBV ), can cause a deadly illness resembling the blood cancer lymphoma .
EBV
Mononucleosis, or mono, is a viral infection that causes fever, sore throat, and swollen lymph glands, most often in the neck.
Lymphoma
Hodgkin lymphoma is a cancer of lymph tissue. Lymph tissue is found in the lymph nodes, spleen, liver, bone marrow, and other sites.
Other symptoms may include:
- Decreased vision
- Intellectual disability
- Muscle weakness
-
Nerve problems in the limbs (
peripheral neuropathy
)
Peripheral neuropathy
Peripheral nerves carry information to and from the brain. They also carry signals to and from the spinal cord to the rest of the body. Peripheral n...
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- Numbness
- Tremor
- Seizures
- Sensitivity to bright light (photophobia)
-
Unsteady walking (
ataxia
)
Ataxia
Uncoordinated movement is due to a muscle control problem that causes an inability to coordinate movements. It leads to a jerky, unsteady, to-and-fr...
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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
- EEG
- EMG
- Nerve conduction tests
Treatment
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.
Bone marrow transplants
A bone marrow transplant is a procedure to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Bone marrow is the soft, fat...
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.
Abscesses
An abscess is a collection of pus in any part of the body. In most cases, the area around an abscess is swollen and inflamed.
Support Groups
National Organization for Rare Disorders (NORD) -- rarediseases.org
Outlook (Prognosis)
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.
Possible Complications
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.
Prevention
Genetic counseling is recommended before becoming pregnant if you have a family history of Chediak-Higashi.
References
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.
Review Date: 8/1/2015
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.
