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

临床儿科杂志 ›› 2014, Vol. 32 ›› Issue (1): 76-79.

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

李旭芳^{1, 2} 方峰¹ 徐三清¹

1 华中科技大学同济医学院附属同济医院儿科 (湖北武汉 430030）；
2 广州市妇女儿童医疗中心儿科（广东广州 510000）

收稿日期:2014-01-15 出版日期:2014-01-15 发布日期:2014-01-15

Chediak-Higashi syndrome complicated by chronic active Epstein-Barr virus infection: a case report　LI Xufang^1,2, FANG Feng¹, XU Sanqing¹ (1.Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, Hubei, China; 2.Department of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou 510000, Guangdong, China)

Received:2014-01-15 Online:2014-01-15 Published:2014-01-15

摘要/Abstract

摘要：

　目的　探讨先天性白细胞异常颗粒综合征（CHS）合并慢性活动性EB病毒（CAEBV）感染的临床特点、诊治方法及相关发病机制。方法　分析1例1岁7个月CHS合并EBV感染女性患儿的诊治经过，并复习相关文献。结果　患儿既往有多次感染史，贫血貌，头发灰白稀疏，双侧虹膜色泽变浅、周边呈车辐样改变，双肺可闻及细湿啰音，肝脾明显肿大，血象进行性三系减少，超敏C-反应蛋白升高，痰培养有铜绿假单胞菌生长，血EBV DNA明显升高，苯丙氨酸尿症筛查实验（－），发干光镜检查显示色素脱失，骨髓细胞学检查可见吞噬型组织细胞增多，骨髓细胞电镜检查部分分叶核粒细胞胞浆内可见粗大溶酶体颗粒。结论　CHS诊断不能仅依赖于外周血和骨髓细胞涂片光镜检查，必要时可进行电镜检查以发现粒细胞内粗大异常的溶酶体颗粒。目前CHS的治疗方法有限，骨髓移植可能可以纠正免疫及血液学方面的缺陷。

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.

李旭芳方峰徐三清. 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[J]. 临床儿科杂志, 2014, 32(1): 76-79.

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（收稿日期：2013-07-14）
（本文编辑：邹强）