Deprez P, Laurent R, Griscelli C, Buriot D, Agache P
Ann Dermatol Venereol. 1978 Oct;105(10):841-9.
A typical case of Chédiak-Higashi disease is reported in a French four years old boy (no parents consanguinity). The clinical aspect of oculo-cutaneous and pilar hypopigmentation, associated with recurrent infections led to the diagnosis of C. H. disease which was confirmed by the presence of giant leukocytes granulations in the blood and giant melanosomes in epidermal melanocytes; these giant pigmented granules, are made of a limiting unique membrane with granular matrix and periodic filamentous structures, which correspond to stade I, II and III melanosomes. In keratinocytes, melanosomes are rare, never isolated and scattered in cytoplasm, but grouped in giant melanosomes complexes. No specific immunity deficiency is found in this patient but the chemotaxis of neutrophil polymorphonuclear leukocytes was decreased but restored by levamisole treatment. Concanavaline A Cap formation by polymorphonuclear leukocytes was abnormally increased, but returned at a normal level after cyclic GMP incubation and levamisole treatment. Unfortuntely, the patient died soon after accelerated phase had begun, in an anatomo-clinical picture of pseudo-lymphoma. A pathogenic discussion of CH disease is presented with the help of a study of 102 cases of literature.
报道了一名4岁法国男孩（父母非近亲结婚）的典型切-希二氏病病例。眼皮肤和毛发色素减退的临床症状，伴有反复感染，导致切-希二氏病的诊断，血液中存在巨大白细胞颗粒以及表皮黑素细胞中存在巨大黑素体证实了该诊断；这些巨大色素颗粒由具有颗粒状基质和周期性丝状结构的单一限制膜组成，对应于I、II和III期黑素体。在角质形成细胞中，黑素体很少见，从不孤立且分散在细胞质中，而是聚集在巨大黑素体复合物中。该患者未发现特异性免疫缺陷，但中性多形核白细胞的趋化性降低，但左旋咪唑治疗后恢复。多形核白细胞的刀豆球蛋白A帽形成异常增加，但在环磷酸鸟苷孵育和左旋咪唑治疗后恢复到正常水平。不幸的是，患者在加速期开始后不久死亡，呈现出假淋巴瘤的解剖临床症状。借助对102例文献的研究，对切-希二氏病进行了病因学讨论。
