Management of Severe Neutropenia in a Child With Chediak-Higashi Syndrome Using Granulocyte-Colony Stimulating Factor (G-CSF): A Case Report

应用粒细胞集落刺激因子(G-CSF)治疗Chediak-Higashi综合征患儿重度中性粒细胞减少症:病例报告

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Abstract

Chediak-Higashi syndrome (CHS) is a congenital immunodeficiency disorder characterized by recurrent bacterial infections, oculocutaneous albinism, and abnormal intracellular protein transport. The incidence of CHS is rare, with approximately 500 cases reported so far. One of the key immunological features of CHS is neutropenia. The management of CHS includes supportive treatment, chemotherapy, methylprednisolone, IL-2 administration, and hematopoietic stem cell transplantation (HSCT). However, neutropenia can persist even after these treatments. This case report presents the successful management of severe neutropenia in an 8-year-old girl diagnosed with CHS. The patient exhibited classic CHS features, including hypopigmentation and recurrent infections. Initial treatment with antibiotics led to the resolution of the fever, but severe neutropenia persisted. Granulocyte-colony stimulating factor (G-CSF) therapy was initiated, which resulted in a substantial increase in the absolute neutrophil count (ANC) with no adverse effects. Throughout treatment with G-CSF, the patient remained stable. The patient was finally referred to the tertiary care center for consideration of bone marrow transplantation. This case highlights the potential safety and efficacy of G-CSF in managing CHS-associated neutropenia.

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