Chou I-Ling, Su Ting Wei, Lew William James, Azizi Hana F, Zhou Xiaohua, Yang Pei-Yu
School of Medicine, China Medical University, Taichung, Taiwan.
John A. Burns School of Medicine, Honolulu, HI.
Medicine (Baltimore). 2025 Aug 1;104(31):e43710. doi: 10.1097/MD.0000000000043710.
Hemophilia, an inherited bleeding disorder, is rarely caused by congenital factor VII (FVII) deficiency, occurring in 1 in 500,000 patients. Oftentimes, the presenting symptom of newborns with congenital FVII deficiency is intracranial hemorrhage, which can lead to adverse neurological outcomes.
A 2-day-old male infant, born late preterm, presented with symptoms of coffee-ground emesis, lethargy, and feeding difficulties.
Computed tomography revealed acute ischemic stroke with hemorrhagic transformation in the territory of the left middle cerebral artery, along with acute subdural hematoma and intraventricular hemorrhage. A few days later, magnetic resonance imaging showed an additional hemorrhagic infarction in the left parietal-occipital lobes. Hematologic testing confirmed FVII deficiency.
The patient underwent treatment with recombinant FVII. On the 15th day, following the correction of the bleeding tendency, a ventriculoperitoneal shunt was inserted. An early and comprehensive rehabilitation program was initiated.
The patient exhibits right-sided hemiplegia, visual deficits, and global developmental delays. However, gradual progress has been noted through rehabilitative interventions. Currently, at the age of 44 months, the patient can stand with minimal assistance for 10 minutes, cruise over extended distances, articulate brief phrases, and comply with simple instructions.
This case report describes the first documented neonatal case of congenital FVII deficiency associated with simultaneous cerebral infarction and hemorrhage, indicating that FVII deficiency does not protect against thrombosis. Early, comprehensive rehabilitation capitalizes on neuroplasticity, potentially enhancing motor, cognitive, and communicative skills and supporting functional independence in patients with perinatal stroke.
血友病是一种遗传性出血性疾病，很少由先天性因子VII（FVII）缺乏引起，每50万名患者中约有1例。通常，先天性FVII缺乏的新生儿的主要症状是颅内出血，这可能导致不良的神经学后果。
一名2天龄的晚期早产儿男婴，出现咖啡渣样呕吐、嗜睡和喂养困难症状。
计算机断层扫描显示左大脑中动脉区域急性缺血性卒中伴出血转化，以及急性硬膜下血肿和脑室内出血。几天后，磁共振成像显示左顶枕叶另有出血性梗死。血液学检测确诊FVII缺乏。
患者接受重组FVII治疗。第15天，在出血倾向得到纠正后，插入了脑室腹腔分流管。启动了早期综合康复计划。
患者表现为右侧偏瘫、视力缺陷和全面发育迟缓。然而，通过康复干预已注意到逐渐取得进展。目前，在44个月大时，患者在最小辅助下可站立10分钟，能远距离缓慢移动，能说出简短短语，并能遵守简单指令。
本病例报告描述了首例有记录的先天性FVII缺乏新生儿同时发生脑梗死和出血的病例，表明FVII缺乏并不能预防血栓形成。早期综合康复利用神经可塑性，可能增强围产期卒中患者的运动、认知和沟通技能，并支持其功能独立。
