1例Chediak-Higashi综合征报告并文献回顾

目的加强对Chediak-Higashi综合征的认识。方法对诊断明确的1例Chediak-Higashi综合征（CHS）临床资料进行报告并回顾相关文献。结果 Chediak-Higashi综合征主要表现为反复感染、眼部及皮肤白化病,加速期患者主要表现为全血细胞减少,肝脾及淋巴结肿大等噬血细胞综合征表现。诊断依靠外周血涂片、骨髓片中有核细胞浆中找到紫红色、圆形或椭圆形巨大颗粒。结论 Chediak-Higashi综合征患者常因严重感染或出血死亡,异基因骨髓移植可改善免疫缺陷及血液系统缺陷,但不能抑制神经系统病变的发展。目前对本病无根治方法,故应进行积极的产前诊断。

Chediak-Higashi syndrome: A case report and literature review

Objective To improve the understanding of Chediak-Higashi syndrome（CHS）.Methods Clinical data about 1 CHS case was reported and retrospectively analyzed with its related literature reviewed.Results The main manifestations of CHS were repeated infection,ocular and cutaneous albinism,which accelerates the manifestations of hemophagocytic syndrome,such as pancytopenia,hepatomegaly and splenomegaly.It was diagnosed depending on the presence of violet red,round and oval large granules in nucleared plasma on peripheral blood or bone marrow smear.Conclusion CHS patients usually die due to severe infection or hemorrhage.Allogeneic bone marrow transplantation can contribute to the recovery of immunologic and hematologic abnormalities,but cannot inhibit lesions in the nerve system.Since no radical therapy is available for it,prenatal diagnosis is essential.