Griscelli sendromu, iki kardeş olgu sunumu

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

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.

Keywords:

Fever; Griscelli syndrome; hemophagocytic syndrome.,

PDF

___

1. Yalman N, Sarper N, Unal E, et al. Griscelli disease presenting with hemophagocytosis and cerebral involvement. Turk J Immunol 1998;3:87–91
2. Durmaz A, Ozkinay F, Onay H, Tombuloglu M, Atay A, Gursel O, et al. Molecular analysis and clinical findings of Griscelli syndrome patients. J Pediatr Hematol Oncol 2012;34:541-4
3. Elajelde BR, Holquin J, Valencia A, Gilbert EF, Molina J, Marin G, et al. Mutations affecting pigmentation in man: Neuroectodermal melanolysosomal disease. Am J Med Genet 1979;3:65-80
4. Baumeister FA, Stachel D, Schuster F, et al. Accelerated phase in partial albinism with immunodeficiency (Griscelli syndrome): Genetics and stem cell transplantation in a 2 month- old girl
Eur J Pediatr 2000;159:74-78
5. Klein C, Philippe N, Le Deist F, Schmid I, Schaller M, Wolff H, et al. Partial albinism with immunodeficiency (Griscelli syndrome). J Pediatr 1994;125:886-895
6. Hasan Aydın, Volkan Kızılgöz, İdil Güneş Tatar, Nilay Aydın Oktay, Baki Hekimoğlu. Griscelli sendromu: Klinik özellikleri ve beyin MRG bulguları. Yeni Tıp Dergisi 2011;28:173-176