Griscelli sendromu: Bir olgu sunumu
Küçük Resim Yok
Tarih
2002
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Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Griscelli Hastalığı otozomal resesif geçişli nadir bir hastalık olup, açık ten rengi, gümüş grisi saçlar, tekrarlayan ateş atakları ve enfeksiyonlarla karakterizedir. Sendromda ayrıca değişik derecelerde immun yetersizlik ve geniş bir spektrum içerisinde nöroloj ik bozukluklar görülebilir. Bu yazıda ateş yüksekliği ve öksürük yakmmalarıyla başvuran 3.5 aylık bir kız olgu sunulmuştur. Öyküsünden, iki ay önce idrar yolu enfeksiyonu nedeniyle hastanede yatırıldığı, 3. dereceden akraba bir anne-babamn, 2. çocukları olup, ilk çocuklarının da benzer fizik özelliklere sahip olduğu, 5 aylıkken ateş nedeniyle yatırıldığı hastanede eksitus olduğu öğrenildi. Fizik bakısında; gelişimi normal, ateş 37.8 °C(aksiller), cildinin açık renkli, saçlarının gümüş grisi renkte, karaciğer ve dalağın midklavikuler hatta 3'er cm palpabl olması dışında, diğer sistem bakıları olağan olarak değerlendirildi. Rutin laboratuvar incelemelerinde, lökopeni dışında patoloji saptanmadı. Kemik iliği aspirasyonu normal, lökopeni sepsise sekonder olarak değerlendirildi. Serum immunoglobulinleri normal, lenfosit panelinde; CD 19: %11 (ND:31-48) olarak düşük bulundu. Soygeçmişinde kardeş öyküsü olması ve hastanın fenotipik özellikleri ile Griscelli Hastalığı düşünüldü. İkili antibiyotik tedavisinin 4. gününde ateş yüksekliğine hakim olundu ve pansitopenisinde de düzelme saptandı. Tam saç telinin ışık mikroskobik incelemesi ve kliniğe dayalı olarak kondu ve hasta kemik iliği transplantasyonu yapılan bir merkeze sevk edildi. Tekrarlayan enfeksiyon etyolojisinde, belirgin fenotipik özellikler gö steren olgularda Griscelli Sendromu da düşünülmelidir.
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 first 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 °C, axillar), light skin color, silvery gray sheen to the hair and progressive hepatosplenomegaly. the laboratory analysis showed leucopenia considered to be secondary to the sepsis. Bone marrow aspiration was normal. Immunologie 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.
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 first 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 °C, axillar), light skin color, silvery gray sheen to the hair and progressive hepatosplenomegaly. the laboratory analysis showed leucopenia considered to be secondary to the sepsis. Bone marrow aspiration was normal. Immunologie 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.
Açıklama
Anahtar Kelimeler
Genel ve Dahili Tıp
Kaynak
Adnan Menderes Üniversitesi Tıp Fakültesi Dergisi
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Scopus Q Değeri
Cilt
3
Sayı
3
