Almesfer Ahmed, Alradhi Sami, Alamr Fahad, AlSaiary Mohammed
Pediatric Allergy and Immunology Unit, Maternity and Children Hospital, Dammam, SAU.
General Pediatric Unit, Maternity and Children Hospital, Dammam, SAU.
Cureus. 2023 Nov 18;15(11):e49010. doi: 10.7759/cureus.49010. eCollection 2023 Nov.
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.
切迪阿克-希加希综合征（CHS）是一种先天性免疫缺陷疾病，其特征为反复发生细菌感染、眼皮肤白化病以及细胞内蛋白质转运异常。CHS的发病率很低，迄今为止报告的病例约有500例。CHS的关键免疫学特征之一是中性粒细胞减少。CHS的治疗包括支持治疗、化疗、甲基强的松龙、白细胞介素-2给药以及造血干细胞移植（HSCT）。然而，即使经过这些治疗，中性粒细胞减少仍可能持续存在。本病例报告介绍了一名8岁诊断为CHS的女孩严重中性粒细胞减少的成功治疗情况。该患者表现出典型的CHS特征，包括色素减退和反复感染。最初使用抗生素治疗使发热症状消退，但严重中性粒细胞减少仍持续存在。开始使用粒细胞集落刺激因子（G-CSF）治疗，结果绝对中性粒细胞计数（ANC）大幅增加且无不良反应。在整个G-CSF治疗过程中，患者病情保持稳定。该患者最终被转诊至三级医疗中心考虑进行骨髓移植。本病例突出了G-CSF在治疗CHS相关中性粒细胞减少方面的潜在安全性和有效性。
