Chediak-Higashi Syndrome – A Case Report

Chediak-Higashi Syndrome – A Case Report

Authors

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

DOI:

https://doi.org/10.21649/akemu.v14i3.48

Abstract

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

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How to Cite

Masood, A., Nadeem, M., Amin, S., & Kazmi, A. H. (2010). Chediak-Higashi Syndrome – A Case Report. Annals of King Edward Medical University, 14(3), 116. https://doi.org/10.21649/akemu.v14i3.48

Issue

Vol. 14 No. 3 (2008)

Section

Research Articles

License

This is an open-access journal and all the published articles / items are distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. For comments publications@kemu.edu.pk

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