Title of article :
Chediak-Higashi Syndrome – A Case Report
Author/Authors :
MASOOD، A. نويسنده , , NADEEM، M. نويسنده , , AMAN، S. نويسنده , , KAZMI، A.H. نويسنده ,
Issue Information :
دوفصلنامه با شماره پیاپی سال 2008
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.
Keywords :
photophobia , Oculo-cutaneous , albinism
Journal title :
Annals of King Edward Medical University
Journal title :
Annals of King Edward Medical University