Chediak-Higashi syndrome

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• Jerky eye movements (nystagmus)
• Decreased vision
• Sensitivity to bright light (photophobia)
• Albinism (a lighter complexion than unaffected family members)
• Silvery sheen to hair which may be fair in color
• Frequent infections (skin, oral, respiratory)
• Mental retardation
• Tremor, abnormal walking gait, seizures, numbness
• Muscle weakness

• Blood smear shows giant granules in the white blood cells that are positive with stains for peroxidases
• Giant granules are also found in cells from biopsy of skin, muscle, nervous system
• Blood platelet or white blood cell levels are abnormally low
• Physical examination may show enlarged spleen, liver or jaundice
• Genetic testing may show mutations in the CHS1 gene
• EEG may show seizures
• Brain MRI or CT scan may show small brain due to atrophy
• EMG or nerve conduction velocity testing may show delayed nerve conduction
• Red light reflex of the eye (frequently seen in albinism) is present 
• Tests show abnormal immune function

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.