Chediak-Higashi Syndrome – A Case Report


  • Anoosh Masood
  • Muhammad Nadeem
  • Shahbaz Amin
  • Atif Hasnain Kazmi



Chediak-Higashi syndrome (CHS) is an autosomal recessively inherited, rare disorder, characterized by oculo-cutaneous albinism, photophobia, nystagmus and an abnormal susceptibility to cutaneous and respiratory infections. Hematological and serious neurological abnormalities can also occur with progression of the disease. Many similar cases of the disease with additional features have been reported in foreign literature. We describe one case of this disorder along with review of literature.

Key words:  Oculo-cutaneous, albinism, photophobia

How to Cite

Masood, A., Nadeem, M., Amin, S., & Kazmi, A. H. (1). Chediak-Higashi Syndrome – A Case Report. Annals of King Edward Medical University, 14(3), 116.




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