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Chediak-Higashi syndrome

Symptoms: 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 Signs and tests: 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

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