Chediak-Higashi syndrome
Symptoms:
- jerky eye movements (nystagmus)
- albinism (these children have a lighter complexion than unaffected family members)
- red light reflex from the pupil of the eye (frequently seen in albinism)
- silvery sheen to hair
- frequent infections (skin, oral, respiratory)
Signs and tests:
- blood smear that shows giant granules in the white blood cells
- white blood cell peroxidase studies with abnormal results
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