Griscelli sendromu, iki kardeş olgu sunumu

Öz

Griscelli sendromu, değişik düzeyde immun yetmezlik ve parsiyel albinizm ile karakterize nadir gözlenen otozomal resesif bir bozukluktur. Saç tellerinin mikroskopisinde, gümüş grisi renk ve geniş kümeleşen melanozomlar teşhis koydurucudur. Belirli enfeksiyonlara artmış eğilim mevcut olup hayatı tehdit eden lenfohistiositik sendrom gelişimine de meyil vardır. Bu hastalığın 3 tipi tanımlanmıştır. Biz Griscelli sendromlu iki kardeşte 2 ay ara ile gelişen hemofagositik sendromu rapor ettik.

Anahtar Kelimeler

• Ateş; Griscelli sendromu; hemofagositik sendrom.

Griscelli syndrome, report of two siblings

Öz

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.

Anahtar Kelimeler

• Fever; Griscelli syndrome; hemophagocytic syndrome.

Kaynakça

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