Ho Min-Chieh, Hsieh Yi-Ting
Department of Ophthalmology, Taipei Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, New Taipei, Taiwan.
J AAPOS. 2013 Oct;17(5):558-60. doi: 10.1016/j.jaapos.2013.06.003.
An 8-year-old Taiwanese girl presented with hyperpigmentation and scattered hypopigmentation in her irides and choroids. Her skin showed hyperpigmentation with speckled hypopigmentation over cheeks and sun-exposed areas. Medical history was remarkable for frequent infectious episodes and lower extremity bruising. A peripheral blood smear revealed large inclusion bodies in the cytoplasm of neutrophils. The patient was diagnosed with Chediak-Higashi syndrome and continues to be monitored closely.
一名8岁台湾女孩出现虹膜和脉络膜色素沉着过度及散在性色素减退。她的皮肤在脸颊和暴露于阳光下的部位有色素沉着过度伴斑点状色素减退。病史显示常有感染发作和下肢瘀伤。外周血涂片显示中性粒细胞胞质内有大的包涵体。该患者被诊断为Chediak-Higashi综合征，目前仍在密切监测中。
