Chédiak-Higashi syndrome (patient information)
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Chédiak-Higashi syndrome |
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Chédiak-Higashi syndrome On the Web |
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Risk calculators and risk factors for Chédiak-Higashi syndrome |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Overview
Chediak-Higashi syndrome is rare disease of the immune and nervous systems that involves by pale-colored hair, eyes, and skin.
What are the symptoms of Chediak-Higashi syndrome ?
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 (mental retardation)
- Muscle weakness
- Nerve problems in the limbs (peripheral neuropathy)
- Nosebleeds or easy bruising
- Numbness
- Tremor
- Seizures
- Sensitivity to bright light (photophobia)
- Unsteady walking (ataxia)
What causes Chediak-Higashi syndrome ?
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.
Diagnosis
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
- EEG
- EMG
- Nerve conduction tests