Kanjanapongkul Somjai
Hemato/oncology Unit, Queen Sirikit National Institute of Child Health, 420/8 Rajavithi Rd, Rajathevi, Bangkok 10400, Thailand.
J Med Assoc Thai. 2006 Apr;89(4):541-4.
Chediak-Higashi syndrome (CHS) is a very rare autosomal recessive immunodeficiency disorder characterized by partial albinism, recurrent pyogenic infections, and large granules in all granule-containing cells. The author describes a Thai girl who was the first case of CHS in Thailand. She presented in the accelerated phase of CHS, which leads to repeated infections and bleeding, often resulting in fatal outcome. Pancytopenias, hepatosplenomegaly, lymphohistiocytic infiltration in bone marrow and the abnormal characteristic granules in leukocyte clinched the diagnosis.
切迪阿克-东综合征（CHS）是一种非常罕见的常染色体隐性免疫缺陷疾病，其特征为部分白化病、复发性化脓性感染以及所有含颗粒细胞中出现大颗粒。作者描述了一名泰国女孩，她是泰国首例CHS病例。她表现为CHS的加速期，这会导致反复感染和出血，常常导致致命后果。全血细胞减少、肝脾肿大、骨髓中的淋巴细胞组织细胞浸润以及白细胞中异常的特征性颗粒确诊了该疾病。
