Chediak-Higashi综合征1例报告并文献复习

目的:提高对Chediak-Higashi综合征的认识。方法:对1例Chediak-Higashi综合征患儿的临床资料进行分析,并复习国内外相关文献。结果:Chediak-Higashi综合征主要表现为反复感染、眼部及皮肤白化病,加速期患者主要为全血细胞减少、肝脾淋巴结肿大等噬血细胞综合征表现。本病的确诊依靠在外周血涂片、骨髓片中的有核细胞胞浆内找到紫红色、圆形或椭圆形的巨大颗粒。结论:Chediak-Higashi综合征是一种罕见病,预后差,在临床中应加深对该病的认识,以早期诊断。

Chediak-Higashi Syndrome: A Case Report and Literature Review

Objective:To improve the recognition of Chediak-Higashi syndrome(CHS).Method:The clinical data of one case of CHS was analyzed and the related literatures were reviewed.Results:CHS often presented with recurrent infections and oculocutaneous albinism.The manifestations of the accelerated phase of CHS were similar to those of hemophagocytic syndrome,such as pancytopenia,hepatosplenomegaly and lymphadenopathy.The diagnostic hallmark was the occurrence of characteristic giant granules in the peripheral leukocytes and their bone marrow precursors.Conclusion:CHS is a rare disease with poor prognosis.The early diagnosis is important.