Griscelli syndrome, report of two siblings

Griscelli sendromu, iki kardeş olgu sunumu


Abstract views: 31 / PDF downloads: 21

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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References

Yalman N, Sarper N, Unal E, et al. Griscelli disease presenting with hemophagocytosis and cerebral involvement. Turk J Immunol 1998;3:87–91.

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.

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.

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.

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.

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.

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Published

2023-05-03

How to Cite

Bay, A., Özcan, M., Aktekin, E., Doğan, A., & Yılmaz, F. (2023). Griscelli syndrome, report of two siblings: Griscelli sendromu, iki kardeş olgu sunumu. European Journal of Therapeutics, 19(2), 138–140. https://doi.org/10.5455/GMJ-30-2013-138

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Section

Case Reports