International Journal of Hematology and Oncology
2023, Vol 33, Num 4 Page(s): 196-199
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A Case of Chediak-Higashi Syndrome Presented with Hemophagocytic Lymphohistiocytosis
Sinan AKBAYRAM1, Cihangir AKGUN1, Murat BASARANOGLU1, Avni KAYA1, Gunay BALTA2, Lokman USTYOL1, Osman YESILMEN1, Ibrahim DEGER1, Ahmet F. ONER3
1Yuzuncu Yil University Faculty of Medicine, Department of Pediatrics, Van, TURKEY
2Hacettepe University Faculty of Medicine, Department of Pediatric Hematology, Ankara, TURKEY
3Yuzuncu Yil University Faculty of Medicine, Department of Pediatric Hematology, Van, TURKEY
Keywords: Albinism, Chediak Higashi syndrome, Hemophagocytic lymphohistiocytosis
Chediak Higashi syndrome, is a rare autosomal recessive disorder characterised by oculocutaneus albinism, recurrent respiratory system infections and other pyogenic infections. Hemophagocytic lymphohistiocytosis can develop in any time of the life in patients with Chediak Higashi syndrome. A 14-month-old girl patient was diagnosed as hemophagocytic lymphohistiocytosis with the laboratory findings of pancytopenia, high levels of triglyceride and ferritin, hypofibrinogenemia, low ratio of natural killers in lymphocyte subtypes, and with determined macrophages that made hemophagocytosis in recurrent bone marrow aspirates. The treatment protocol of hemophagocytic lymphohistiocytosis 2004 was administered. During the maintenance treatment, recurrence was developed. In the second bone marrow examination, the diagnosis of Chediak Higashi syndrome was made with determined intracytoplasmic giant granules. Hair analysis result was meaningful for Chediak Higashi syndrome. In this report, we would like to emphasize the condition that especially in early infants, Chediak Higashi syndrome presenting with hemophagocytic lymphohistiocytosis may be misdiagnosed because of the uncertain clinical findings and this can be the result of resistance to treatment.
Sinan AKBAYRAM1, Cihangir AKGUN1, Murat BASARANOGLU1, Avni KAYA1, Gunay BALTA2, Lokman USTYOL1, Osman YESILMEN1, Ibrahim DEGER1, Ahmet F. ONER3
1Yuzuncu Yil University Faculty of Medicine, Department of Pediatrics, Van, TURKEY
2Hacettepe University Faculty of Medicine, Department of Pediatric Hematology, Ankara, TURKEY
3Yuzuncu Yil University Faculty of Medicine, Department of Pediatric Hematology, Van, TURKEY
Keywords: Albinism, Chediak Higashi syndrome, Hemophagocytic lymphohistiocytosis
Chediak Higashi syndrome, is a rare autosomal recessive disorder characterised by oculocutaneus albinism, recurrent respiratory system infections and other pyogenic infections. Hemophagocytic lymphohistiocytosis can develop in any time of the life in patients with Chediak Higashi syndrome. A 14-month-old girl patient was diagnosed as hemophagocytic lymphohistiocytosis with the laboratory findings of pancytopenia, high levels of triglyceride and ferritin, hypofibrinogenemia, low ratio of natural killers in lymphocyte subtypes, and with determined macrophages that made hemophagocytosis in recurrent bone marrow aspirates. The treatment protocol of hemophagocytic lymphohistiocytosis 2004 was administered. During the maintenance treatment, recurrence was developed. In the second bone marrow examination, the diagnosis of Chediak Higashi syndrome was made with determined intracytoplasmic giant granules. Hair analysis result was meaningful for Chediak Higashi syndrome. In this report, we would like to emphasize the condition that especially in early infants, Chediak Higashi syndrome presenting with hemophagocytic lymphohistiocytosis may be misdiagnosed because of the uncertain clinical findings and this can be the result of resistance to treatment.
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