Griscelli syndrome, report of two siblings: Griscelli sendromu, iki kardeş olgu sunumu

Ali Bay; Murat Özcan; Elif Aktekin; Alper Doğan; Fatih Yılmaz

doi:10.5455/GMJ-30-2013-138

Authors

Ali Bay Gaziantep Üniversitesi, Tıp Fakültesi, Pediatrik Hematoloji Bilim Dalı, Gaziantep
Murat Özcan Gaziantep Üniversitesi, Tıp Fakültesi, Pediatri Anabilim Dalı, Gaziantep
Elif Aktekin Gaziantep Üniversitesi, Tıp Fakültesi, Pediatrik Hematoloji Bilim Dalı, Gaziantep
Alper Doğan Gaziantep Üniversitesi, Tıp Fakültesi, Pediatri Anabilim Dalı, Gaziantep
Fatih Yılmaz Gaziantep Üniversitesi, Tıp Fakültesi, Pediatri Anabilim Dalı, Gaziantep

DOI:

https://doi.org/10.5455/GMJ-30-2013-138

Keywords:

Fever, Griscelli syndrome, hemophagocytic syndrome

Abstract

Griscelli syndrome is a rare autosomal recessive disorder characterized by partial albinism with variable immunodeficiency. Silvery grey hair with large, clumped melanosomes on microscopy of hair shafts is diagnostic. There is increased susceptibility to certain infections and tendency to develop a life threatening hemophagocytic syndrome. There are three types of this syndrome described. We report two siblings with Griscelli syndrome whom developed hemophagocytic syndrome in two months intervals.

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