PDF(Pubmed)
Abstract：
Griscelli syndrome (GS) type II is a rare hereditary disorder characterized by partial albinism, immunodeficiency, and the subsequent development of hemophagocytic syndrome (HPS). Herein, we present a case involving a four-month-old infant admitted to our facility due to a prolonged fever complicated by HPS. The diagnosis of GS type 2 was established based on a constellation of clinical and laboratory findings: consanguinity, familial history of early infectious fatalities, ocular-cutaneous hypopigmentation, characteristic silvery hair sheen, onset of HPS, and notably, the pathognomonic appearance upon microscopic examination of a hair sample. The absence of giant granules within nucleated cells helped exclude Chediak-Higashi syndrome.
摘要：
Griscelli综合征（GS）II型是一种罕见的遗传性疾病，以部分白化病为特征，免疫缺陷,以及随后的噬血细胞综合征（HPS）的发展。在这里，我们提出了一个案例，涉及一名4个月大的婴儿因长期发烧并发HPS而入院。GS2型的诊断是基于一系列临床和实验室发现：血缘关系，早期传染病死亡的家族史，眼皮肤色素沉着减退，特有的银色头发光泽，HPS的发作，尤其是,头发样本显微镜检查时的病态外观。有核细胞内缺乏巨大颗粒有助于排除Chediak-Higashi综合征。
