Objective To study the clinical features of Chediak-Higashi Syndrome (CHS) and highlight its recognition. Methods One case of CHS was reported and the related literatures were reviewed. Results Chediak-Higashi Syndrome is a very rare autosomal recessive disease characterized by partial albinism, severe immunedeficiency, recurrent infections, progressive neurological defects and lymphoproliferative syndrome. Final diagnosis depends on the microscopic finding of large lysosome granules in neutrophils. Allogeneic transplantation is expected to be an effective treatment for CHS. Conclusion Chediak-Higashi Syndrome is a very rare disease with complicated clinical presentation and poor prognosis.It is easy to make a misdiagnosis and requires deep understanding.%目的 探讨Chediak-Higashi综合征的临床特点,以提高对本病的认识.方法 分析1例Chediak-Higashi综合征患儿的临床资料,并对相关文献进行复习.结果 本例Chediak-Higashi综合征患儿主要表现为皮肤、毛发色素减退、易感染、眼畏光、出血倾向、肝脾淋巴结肿大、外周神经病变等.血涂片或骨髓片见中性粒细胞内特征性的异常粗大溶酶体颗粒是确诊依据.造血干细胞移植是有望治愈本病的唯一方法.结论 Chediak-Higashi综合征较为罕见,临床表现复杂,预后差,极易漏诊误诊,应提高对本病的认识.
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