先天性白细胞异常颗粒综合征合并慢性活动性EB病毒感染1例报告

Abstract

Abstract: 　Objectives　To discuss the clinical features, diagnosis and treatment, probable mechanisms of Chediak-Higashi syndrome (CHS) complicated by chronic active Epstein-Barr virus (CAEBV) infection. Methods Diagnosis and treatment of one case of CHS child complicated by CAEBV infection was analyzed and literature review was performed. Results The 19-month-old girl had a history of recurrent infections since birth. On examination, the child was found having anemia appearance with grey thinning hair, and reduced pigment in bilateral iris surrounded by spoke-wheel-like structures. Moreover, fine crackles in lungs and enlarged liver and spleen were also found. Hematological parameters revealed progressive pancytopenia. The level of high-sensitivity C-reactive protein (hs-CRP) was increased. A positive sputum culture for Pseudomonas aeruginosa was observed. Elevated level of EBV DNA was found in the child's peripheral blood. Screening test for phenylketonuria was negative. An optical microscopy examination of her hair showed groups of pigment scattered along the length of the hair shafts. Hemophagocytic histiocytosis was present in smears of bone marrow aspirate. Electron microscope examination of myeloid cell showed the presence of giant lysosomal granules in the intracytoplasm of some segmented neutrocyte. Conclusions The diagnosis of CHS was confirmed by the presence of the distinctive cytoplasmic lysosome granules in leukocytes or in other cells not only depending on peripheral blood films or bone marrow aspirate smears, but also on electron microscope examination of myeloid cell. Treatment for CHS is limited. The immune and hematologic defects may be reversed by bone marrow transplantation.

References

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（收稿日期：2013-07-14）
（本文编辑：邹强）

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