Chediak-Higashi Syndrome: A Case Report of a Girl Without Silvery Hair and Oculocutaneous Albinism Presenting with Hemophagocytic Lymphohistiocytosis

摘要

Chediak-Higashi syndrome (CHS) is a rare, autosomalrecessive inherited disorder characterized by variable degreesof oculocutaneous albinism, severe immune deficiencyand unassociated lymphoproliferative syndrome, andintracytoplasmic giant granules in leukocytes, monocytes,platelets, melanocytes, and erythroid precursors [1,2,3,4,5].CHS is caused by mutations in the lysosomal traffickingregulator gene (LYST) [3,6]. The role of the LYST gene in thetrafficking of granules results in defective release of melaninor cytolytic enzymes, causing hypopigmentation of the skinand hair as well as cytotoxic defect [3]. There are 2 clinicalperiods of the disease: stable and accelerated. In the acceleratedphase, fever, hepatosplenomegaly, hepatitis, lymphohistiocyticinfiltration, pancytopenia, coagulopathy, hemorrhage, andperipheral neuropathy are seen [1]. Herein, we report a caseof CHS presented with hemophagocytic lymphohistiocytosis(HLH).