Moyamoya syndrome associated with Down syndrome: Outcome after surgical revascularization
Moyamoya syndrome associated with Down syndrome: Outcome after surgical revascularization
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DOI：
10.1542/peds.2005-0568
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发表时间：
2005-11-01
期刊：
影响因子：
8
通讯作者：
Scott, RM
中科院分区：
文献类型：
--
作者：
Jea, A;Smith, ER;Scott, RM
目标.本研究旨在描述儿童和成人唐氏综合征的临床、影像学和血管造影特征。我们希望明确烟雾综合征伴唐氏综合征的特征，并确定这些患者早期和晚期随访时的手术血运重建结果。我们回顾了1985年1月1日至2004年6月30日期间所有伴唐氏综合征的烟雾病患者的临床、影像学和血管造影记录，这些患者是先前报道的连续系列患者的一个亚组，这些患者接受了标准化外科手术--软脑膜血管粘连--的脑血管重建术。在研究期间接受手术治疗的181例烟雾综合征患者中，16例患有唐氏综合征（10例女性患者和6例男性患者）。发病时的平均年龄为9.3岁（范围：1 - 29岁）;手术时的平均年龄为9.8岁（范围：2 - 29岁）。尽管10例患者的主要症状为短暂性脑缺血发作，6例患者为卒中，但计算机断层扫描和/或MRI扫描显示9例患者为双侧梗死，6例为单侧梗死，只有1例患者没有既往卒中的影像学证据。无病例出现脑内出血。术前血管造影显示所有患者均存在双侧烟雾综合征改变，包括8例后循环受累。手术治疗包括所有患者的软脑膜血管结合，尽管1例患者在对侧半球接受了颞浅动脉-大脑中动脉旁路术。手术并发症包括术后48天和54天需要清除的症状性硬膜下血肿（2例）、癫痫发作（2例）和术后30天内、术后1天和7天的卒中（2例）。晚期临床和影像学随访数据（平均：67.6个月;范围：6 - 146个月）显示，除1例患者发生癫痫发作伴慢性低钙血症外，其他患者的神经系统状态均未恶化;尽管自手术以来没有新发梗死的证据，但在10年随访评价时，她完全依赖。在后期随访评估中，没有任何患者新发梗死的临床或影像学证据。11例患者术后1年进行的术后血管造影显示，85%的手术治疗半球的影像学证据显示良好至极好的脑血运重建。患者终生服用阿司匹林。与唐氏综合征相关的烟雾病的临床、影像学和血管造影特征似乎与原发性烟雾病相似。脑血管重建手术与软脑膜新生血管连接技术似乎赋予持久的保护，防止额外的中风，在这个病人群体。在评估出现短暂性脑缺血发作样症状的唐氏综合征患者时，应考虑烟雾综合征的存在。
Objectives. This study was undertaken to describe the clinical, radiologic, and angiographic features of moyamoya syndrome in a surgical series of children and adults with Down syndrome. We wished to define the features of moyamoya syndrome associated with Down syndrome and to determine the results of surgical revascularization among these patients at early and late follow-up times.Methods. We reviewed the clinical, radiologic, and angiographic records of all patients with moyamoya syndrome associated with Down syndrome, as a subset of a previously reported, consecutive series of patients who underwent cerebral revascularization surgery with a standardized surgical procedure, pial synangiosis, between January 1, 1985, and June 30, 2004.Results. Of 181 patients with moyamoya syndrome from the initial series who were treated surgically during the study period, 16 patients had Down syndrome (10 female patients and 6 male patients). The average age at onset was 9.3 years (range: 1-29 years); the average age at the time of surgery was 9.8 years (range: 2-29 years). Although the presenting symptoms were transient ischemic attacks for 10 patients and strokes for 6 patients, computed tomographic and/or MRI scans demonstrated bilateral infarctions for 9 patients and unilateral infarctions for 6, with only 1 patient having no imaging evidence of a previous stroke. No cases presented with intracerebral hemorrhage. Preoperative angiography showed the presence of bilateral moyamoya syndrome changes for all patients, including posterior circulation involvement for 8 patients. Surgical treatment included pial synangiosis for all patients, although 1 patient underwent a superficial temporal artery-middle cerebral artery bypass in the contralateral hemisphere. Surgical complications included symptomatic subdural hematomas requiring evacuation, at 48 days and 54 days post-operatively (2 cases), seizures (2 cases), and strokes within 30 days after surgery, at 1 day and 7 days post-operatively (2 cases). Late clinical and radiologic follow-up data (average: 67.6 months; range: 6-146 months) demonstrated no worsening in neurologic status for any patient except for 1 patient who developed a seizure disorder with associated chronic hypocalcemia; she was totally dependent at the 10-year follow-up evaluation, despite no evidence of new infarction since her surgery. There was no clinical or radiologic evidence of new infarction for any patient in late follow- up evaluations. Postoperative angiography, conducted 1 year after surgery for 11 patients, revealed radiologic evidence of good to excellent cerebral revascularization in 85%of the surgically treated hemispheres. Patients were maintained on lifetime aspirin therapy.Conclusions. The clinical, radiologic, and angiographic features of moyamoya syndrome associated with Down syndrome seem comparable to those of primary moyamoya disease. Cerebral revascularization surgery with the pial synangiosis technique seems to confer long-lasting protection against additional strokes in this patient population. The presence of moyamoya syndrome should be considered in the evaluation of patients with Down syndrome who present with transient ischemic attack-like symptoms.