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一名纯合子蛋白C缺乏症患者出现双侧白瞳症。

Bilateral leukocoria in a patient with homozygous protein C deficiency.

作者信息

Khan Nasrat M, Al-Dohayan Noura D, Al-Batiniji Fatima S

机构信息

Department of Ophthalmology, Strabismus and Pediatric Ophthalmology Service, Riyadh Armed Forces Hospital, Riyadh, Kingdom of Saudi Arabia.

出版信息

Saudi Med J. 2007 Jul;28(7):1129-32.

Abstract

We describe a bilateral leukocoria and neonatal purpura fulminans in a male infant, born at full term after an unremarkable pregnancy to a healthy consanguineous married couple. Multiple hemorrhagic skin bullae were found at birth on various parts of the body with bilateral leukocoria, organized vitreous hemorrhage, retinal detachment, and intracranial hemorrhage with undetectable levels of protein C activity. We report a clinical case of homozygous protein-C deficiency with severe purpura fulminans and bilateral leukocoria.

摘要

我们描述了一名男婴的双侧白瞳症和暴发性新生儿紫癜,该男婴足月出生,其母孕期正常,父母为健康的近亲婚配夫妇。出生时发现身体各部位有多处出血性皮肤大疱,伴有双侧白瞳症、玻璃体积血、视网膜脱离和颅内出血,蛋白C活性水平检测不到。我们报告了一例纯合子蛋白C缺乏症伴严重暴发性紫癜和双侧白瞳症的临床病例。

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