Chediak Higashi Syndrome with Hemophagocytic Lymphohistiocytosis

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.

Keywords:

• Chediak-Higashi syndrome
• hemophagocytic lymphohistiocytosis
• immune deficiency

Funding

The author(s) reported there is no funding associated with the work featured in this article.