Abstract

Introduction

Chediak-Higashi syndrome (CHS) is caused by dysfunction of lysosomal trafficking and presents with hypopigmentation, bleeding tendencies, neurological symptoms, and NK cell dysfunction. Hemophagocytic lymphohistiocytosis (HLH) can complicate CHS due to the abnormal function of NK cells.

Case presentation

This 1.5-year-old light-skinned gray-haired girl microscopically had abnormal hair pigment clumps and lilac inclusions in the myeloid series, characteristic of CHS. She presented with HLH, requiring treatment with etoposide and dexamethasone followed by cyclosporine and dexamethasone.

Conclusion

CHS is one of the underlying primary causes of HLH.

中文翻译：

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Chediak Higashi 综合征合并噬血细胞性淋巴组织细胞增生症

摘要

介绍

Chediak-Higashi 综合征 (CHS) 是由溶酶体运输功能障碍引起的，表现为色素减退、出血倾向、神经系统症状和 NK 细胞功能障碍。由于 NK 细胞功能异常，噬血细胞性淋巴组织细胞增生症 (HLH) 可使 CHS 复杂化。

案例展示

这名 1.5 岁的浅肤色白发女孩在显微镜下有异常的毛发色素团块和骨髓系列中的淡紫色包涵体，这是 CHS 的特征。她因 HLH 就诊，需要依托泊苷和地塞米松治疗，然后是环孢菌素和地塞米松治疗。

结论

CHS 是 HLH 的潜在主要原因之一。