摘要目的 探讨儿童家族性烟雾病的临床特征及术后疗效.方法 回顾性分析解放军总医院第五医学中心神经外科2004年8月至2018年6月收治的儿童家族性烟雾病患者的临床资料,共103例,占同期收治的儿童烟雾病患者的9.1％(103/1138).其中99例(183侧大脑半球)行脑硬膜颞浅动脉血管融通术(EDAS),4例行保守治疗.采用松岛分级标准评估血管重建效果.随访观察发生卒中情况.采用Cox回归方法分析影响术后卒中事件的因素.结果 103例中,男、女比例为1.0∶0.9(55/48).中位首发年龄为6岁,发病最高峰在5岁.92.2％(95例)的患儿首先表现为脑缺血性症状.90.3％(93例)为1级亲属受累,其中父系遗传占40.9％(38例)、母系遗传占30.1％(28例)、同胞共患占29.0％(27例);2.9％ (3/103)为2级亲属,6.8％ (7/103)为3级亲属.铃木分期Ⅳ～Ⅵ期者占78.6％(81例),44.7％(46例)病变累及大脑后动脉.99例手术者的随访时间为3～137个月,中位时间为38个月.术后症状改善良好者占87.9％ (87/99);53例(104侧)行脑血管造影检查,松岛分级良好者(A级、B级)占87.5％ (91/104).7例(7.1％,7/99)手术患儿随访期发生了卒中.4例保守治疗的患儿中,1例失访,3例随访期间均未发生卒中.Cox回归分析显示,首发年龄、性别、首发症状、铃木分期、单侧烟雾病、大脑后动脉累及均不是影响术后卒中事件的危险因素(均P＞0.05).结论 儿童家族性烟雾病的发病年龄较早,主要表现为缺血性症状,多见于1级亲属受累.EDAS手术可有效改善患儿的脑缺血症状.

abstractsObjective To investigate the clinical features and surgical outcomes of pediatric patients with familial moyamoya disease (MMD).Methods The clinical data of 103 pediatric patients with MMD treated at the Fifth Medical Center of PLA General Hospital from August 2004 to June 2018 were analyzed retrospectively,accounting for 9.1％ (103/1 138) of the pediatric patients treated during the same period.Among them,99 cases (183 sides of cerebral hemisphere) underwent encephalo-duro-arterio-synangiosis (EDAS),and 4 cases were treated conservatively.Clinical efficacy and vascular reconstruction effect of patients were evaluated according to the system described by Matsushima.Stroke events were observed during follow-up.Factors affecting postoperative stroke events were analyzed by Cox Regression.Results Among the 103 patients,the male to female ratio was 1.0 ∶ 0.9 (55/48).The median age of onset was 6 years old and the peak age was 5 years old.Ninety-five (92.2％) cases showed ischemic symptoms first and 90.3％ (93/103) were affected by first-degree relatives.in which the father-to-child inheritance accounted for 40.9％ (38/93),and the proportions of mother-to-child inheritance is 30.1％ (28/93) and siblings is 29.0％ (27/93).2.9％ (3/103) were second-degree relatives and 6.8％ (7/103) were third-degree relatives.The Suzuki stage of Ⅳ-Ⅵ accounted for 78.6％ (81/103).A total of 46 (44.7％) caes involved posterior cerebral arteries.The follow-up duration of 99 cases undergoing neurosurgical revascularization procedures was 3-137 months with a median of 38 months.There were 87.9％ (87/99) of the patients who had good improvement in terms of postoperative symptoms.Cerebral angiography was performed in 53 cases (104 sides).The patients with good grade (A or B) accounted for 87.5％ (91/104).Stroke occurred in 7 (7.1％) cases during the follow-up period.Of the 4 cases treated conservatively,1 case was lost to follow-up and 3 cases did not develop stroke during follow-up.Cox regression analysis showed that age of onset,sex,initial symptom,Suzuki stage,unilateral MMD and posterior cerebral artery involvement were not risk factors for postoperative stroke events (all P ＞ 0.05).Conclusions The onset age of Chinese pediatric patients with familial MMD is earlier and its presentation is predominantly ischemic.First-degree relatives are more commonly to be affected.The EDAS surgery could effectively relieve the ischemic symptom in pediatric patients.