Chediak-Higashi Syndrome
Diagnosis & Tests
- Blood smear that 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
- Presence of red light reflex of the eye (frequently seen in albinism)
- Tests show abnormal immune function
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