Srichumpuang Chonlatis, Kor-Anantakul Phawin, Brandao Leonardo R, Sosothikul Darintr
Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
Division of Pediatric Hematology and Oncology, Department of Pediatrics, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
BMJ Case Rep. 2025 May 2;18(5):e263471. doi: 10.1136/bcr-2024-263471.
A female newborn was transferred to the hospital due to progressive necrotic skin lesions. She was born full-term with an average birth weight and no prenatal or perinatal problems. She developed the first purplish skin lesion on her left buttock since postnatal day 1. She was initially treated with antibiotics under the impression of early-onset neonatal sepsis; however, her lesions worsened and rapidly progressed. The protein C chromogenic activity was remarkably decreased at below 10%, similar to a protein C antigen level below 1%, highly suggestive of severe congenital protein C deficiency. Molecular analysis revealed compound heterozygous likely pathogenic variants in the protein C gene. After the diagnosis, fresh frozen plasma (FFP) transfusions every 8 hours until the patient was stabilized and therapeutic low-molecular-weight heparin was started. She developed complications related to FFP administration, such as acute kidney injury, hypertension and proteinuria, during the interim period, awaiting the initiation of protein C concentrate replacement therapy.
一名女婴因进行性坏死性皮肤病变被转诊至我院。她足月出生，出生体重正常，无产前或围产期问题。出生后第1天，她左侧臀部出现首个紫色皮肤病变。最初，考虑早发型新生儿败血症，给予抗生素治疗；然而，她的病变恶化并迅速进展。蛋白C发色底物法活性显著降低至10%以下，类似于蛋白C抗原水平低于1%，高度提示严重先天性蛋白C缺乏。分子分析显示蛋白C基因存在复合杂合可能致病性变异。确诊后，每8小时输注新鲜冰冻血浆（FFP）直至病情稳定，并开始使用治疗性低分子量肝素。在此期间，在等待开始蛋白C浓缩物替代治疗时，她出现了与FFP输注相关的并发症，如急性肾损伤、高血压和蛋白尿。
