Chediak Higashi Syndrome with Hemophagocytic Lymphohistiocytosis

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.

Automated summary

Chediak-Higashi syndrome (CHS) is a disorder caused by dysfunction of lysosomal trafficking, leading to hypopigmentation, bleeding tendencies, neurological symptoms, and NK cell dysfunction. CHS can be one of the underlying causes of HLH.