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Chediak-Higashi syndrome

Abstract

A case of Chediak-Higashi syndrome is reported in a four-year-old boy who presented with recurrent chest infection, partial albinism, hyperpigmentation of the extremities and presence of giant granules in leucocytes and melanocytes in the skin. Parental consanguinity was present. Though uncommon, hyperpigmentation of sun exposed areas may be the initial symptom in Chediak-Higashi syndrome.

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Kumar, P., Rao, K.S., Shashikala, P. et al. Chediak-Higashi syndrome. Indian J Pediatr 67, 595–597 (2000). https://doi.org/10.1007/BF02758492

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  • DOI: https://doi.org/10.1007/BF02758492

Key words

  • Chediak-Higashi Syndrome
  • Primary granules
  • Melanosis