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Chidiak-higashi Syndrome

Written by Himabindhu
Medically Reviewed by The Medindia Medical Review Team on Apr 03, 2015
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What is Chidiak-higashi Syndrome ?  

Chediak-Higashi syndrome is an autosomal recessive disorder, which affects all parts of the body mainly immune and nervous system.


Cause(s) :  
  • Hereditary
Symptoms :  
  • Silver hair and light-colored eyes (Albinism)
  • Visual problems like jerky eye movements, decreased vision
  • Increased infections (lungs, skin and mucous membranes)
  • Peripheral neuropathy (numbness in extremities)
  • Seizures
  • Sensitivity to light
  • Unsteady gait
Diagnosis and Tests :  
  • Blood tests
  • Nerve conduction tests
  • Electroencephalogram (EEG)
  • Electrocardiogram (ECG)
  • Magnetic Imaging Resonance (MRI) of Brain
  • Computed Tomography (CT)
  • Electromyography (EMG)
Specialist to consult :  Pediatrics

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