Curry Cynthia J, Bhullar Sundeep, Holmes Jon, Delozier C Dawn, Roeder Elizabeth R, Hutchison H Terry
Genetic Medicine Central California, Department of Pediatrics, University of California, San Francisco, California, USA.
Pediatr Neurol. 2007 Aug;37(2):99-107. doi: 10.1016/j.pediatrneurol.2007.04.007.
The objective of the present study was to examine demographic, historical, and prothrombotic risk factors in infants with perinatal arterial stroke and their mothers. Risk factors were evaluated in 60 mother-child pairs with perinatal arterial stroke. Prothrombotic factors analyzed included the DNA mutations factor V Leiden, prothrombin 20210, MTHFR C677T and A1298C; serum activity levels for protein C, protein S, and antithrombin III; serum levels of lipoprotein(a); and, in the mothers, antiphospholipid antibodies. Boys predominated, 36:24. There were four twin sets. Sixty percent were term and 22% were post-date. Ten were large for gestational age. Five mothers had abdominal trauma. Nine mothers (15%) had preeclampsia. Emergency caesarean section was performed in 17 cases (28%). Eight placental exams revealed seven with abnormalities. Seizures were the presenting sign in 70%, and 30% presented with early handedness or cerebral palsy. Prothrombotic risk factors were found in 28 of 51 mothers (55%) and 30 of 60 children (50%). Forty-one pairs (68%) had at least one abnormality in mother, child, or both. Long-term sequelae included cerebral palsy (40 of 51; 78%), cognitive impairment (35 of 51; 68%), seizures (23 of 51; 45%), and microcephaly (26 of 51; 51%). Perinatal arterial stroke is the result of multifactorial, synergistic fetal and maternal factors among which the prothrombotic factors, both fetal and maternal, appear significant.
本研究的目的是调查围产期动脉性卒中患儿及其母亲的人口统计学、病史和血栓形成前危险因素。对60对患有围产期动脉性卒中的母婴进行了危险因素评估。分析的血栓形成前因素包括凝血因子V莱顿、凝血酶原20210、亚甲基四氢叶酸还原酶C677T和A1298C的DNA突变;蛋白C、蛋白S和抗凝血酶III的血清活性水平;脂蛋白(a)的血清水平;以及母亲体内的抗磷脂抗体。男孩占多数,为36:24。有4对双胞胎。60%为足月儿,22%为过期产儿。10例为大于胎龄儿。5名母亲有腹部外伤。9名母亲(15%)患有先兆子痫。17例(28%)进行了急诊剖宫产。8次胎盘检查显示7次有异常。70%的患儿以癫痫为首发症状,30%表现为早期偏侧优势或脑瘫。51名母亲中有28名(55%)和60名儿童中有30名(50%)存在血栓形成前危险因素。41对(68%)在母亲、孩子或两者中至少有一项异常。长期后遗症包括脑瘫(51例中的40例;78%)、认知障碍(51例中的35例;68%)、癫痫(51例中的23例;45%)和小头畸形(51例中的26例;51%)。围产期动脉性卒中是胎儿和母亲多因素协同作用的结果,其中胎儿和母亲的血栓形成前因素似乎具有重要意义。