Division of Pediatric Hematology-Oncology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Division of Pediatric Hematology-Oncology, Kanuni Sultan Süleyman Training and Research Hospital, Istanbul, Turkey.
J Thromb Thrombolysis. 2018 Feb;45(2):315-318. doi: 10.1007/s11239-017-1606-x.
Purpura fulminans in neonates is a rapidly progressive thrombotic disorder manifesting as hemorrhagic skin infarction and disseminated intravascular coagulation. Being inherited in an autosomal dominant manner, it is a medical emergency. Clinical presentations of patients may vary depending on the genetic mutations. Retinal and intracranial hemorrhages are the worst clinical scenarios with persistent morbidity. During acute phase, fresh frozen plasma, protein C concentrates and anticoagulant therapy should be administered rapidly. Here we report a patient with homozygous protein C deficiency.
新生儿暴发性紫癜是一种迅速进展的血栓性疾病,表现为出血性皮肤梗死和弥散性血管内凝血。该病呈常染色体显性遗传,属于医学急症。患者的临床表现可能因基因突变而有所不同。视网膜和颅内出血是最严重的临床情况,持续存在发病风险。在急性发作期间,应迅速给予新鲜冷冻血浆、蛋白 C 浓缩物和抗凝治疗。本文报告了 1 例纯合子蛋白 C 缺乏症患者。