Şebnem ÇALKAVUR, Erkin SERDAROĞLU, Berna ŞAYLAN, Ragıp ORTAÇ, Necil KÜTÜKÇÜLER, Mustafa BAK

GRİSCELLİ SENDROMU: BİR OLGU SUNUMU

Anahtar Kelimeler:

Griscelli, gümüş grisi saç, açık ten rengi

Griscelli Syndrome: A Case Report

Griscelli syndrome is an uncommon autosomal recessive disorder characterized by relatively light skin colour, hair with a silvery gray sheen, recurrent episodes of fever with or without a detectable infection. Syndrome most often includes variable immunodeficiency and a broad spectrum of neurologic disorders. In this article we presented a 3.5 months old girl who presented with fever and cough. Her history revealed that she had been hospitalised two months ago with a urinary tract infection, having been the second child of third degree related parents, whose fırst child with similar physical characteristics had died at age of 5 months after hospitalization due to high fever. Our patent's clinical findings consisted of normal development, low grade fever (37,8 oC, axillar), light skin color, silvery gray sheen to the hair and progrossive hepatosplenomegaly. The laboratory analysis showed leucopenia considered to be secondary to the sepsis. Bone marrow aspiration was normal. Immunologic study was also normal, except for the lymphocyte panel in which CD 19 : 11% (Normal range: 31-48) was low. Family history and fenotypical features suggested Griscelli syndrome. In fourth day of treatment with antibiotics, the fever was under control and the pancytopenia had improved. The syndrome was confirmed by pathognomonic light microscopic features in fair. The patient was referred for bone marrow trasplantation. Griscelli syndrome should be considered when dealing with reccurent infections in patients with typical fenotypical features.

Keywords:

Griscelli, silver-gray hair, light skin colour,

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