Chediak-Higashi Syndrome: A Case Report of a Girl Without Silvery Hair and Oculocutaneous Albinism Presenting with Hemophagocytic Lymphohistiocytosis
نویسندگان
چکیده
To the Editor, Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive inherited disorder characterized by variable degrees of oculocutaneous albinism, severe immune deficiency and unassociated lymphoproliferative syndrome, and intracytoplasmic giant granules in leukocytes, monocytes, platelets, melanocytes, and erythroid precursors [1,2,3,4,5]. CHS is caused by mutations in the lysosomal trafficking regulator gene (LYST) [3,6]. The role of the LYST gene in the trafficking of granules results in defective release of melanin or cytolytic enzymes, causing hypopigmentation of the skin and hair as well as cytotoxic defect [3]. There are 2 clinical periods of the disease: stable and accelerated. In the accelerated phase, fever, hepatosplenomegaly, hepatitis, lymphohistiocytic infiltration, pancytopenia, coagulopathy, hemorrhage, and peripheral neuropathy are seen [1]. Herein, we report a case of CHS presented with hemophagocytic lymphohistiocytosis (HLH). A 5-month-old girl presented with fever. She was febrile and pale, and she had splenomegaly with no hepatomegaly. There were no neurological symptoms, lymphadenopathy, or bleeding signs. Her body temperature was over 38.8 °C for 8 days in spite of ampicillin/sulbactam and netilmicin therapy. Hematological investigation revealed hemoglobin of 6.3 g/dL, white blood cell count of 3.8x109/L (70% lymphocytes, 10% neutrophils), and Chediak-Higashi Syndrome: A Case Report of a Girl Without Silvery Hair and Oculocutaneous Albinism Presenting with Hemophagocytic Lymphohistiocytosis Chediak-Higashi Sendromu: Gri Saç ve Okülokütanöz Albinizm Olmaksızın Hemofagositik Lenfohistiositoz ile Başvuran Bir Kız Çocuğu Olgu Sunumu
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