See Alfred P, Ropper Alexander E, Underberg Daniel L, Robertson Richard L, Scott R Michael, Smith Edward R
Departments of 1 Neurological Surgery and.
Radiology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.
J Neurosurg Pediatr. 2015 Jul;16(1):58-63. doi: 10.3171/2014.12.PEDS14563. Epub 2015 Apr 3.
OBJECT Moyamoya can cause cerebral ischemia and stroke in Down syndrome (DS) patients. In this study, the authors defined a surgically treated population of patients with DS and moyamoya and compared their clinical presentation, response to surgical treatment, and long-term prognosis with those of the general population of patients with moyamoya but without DS. METHODS This study was a retrospective review of a consecutive operative series of moyamoya patients with DS treated at Boston Children's Hospital from 1985 through 2012. RESULTS Thirty-two patients, average age 9.7 years (range 1.8-29.3 years), underwent surgery for moyamoya in association with DS. The majority presented with ischemic symptoms (87% stroke, 42% transient ischemic attacks). Twenty-four patients (75%) had congenital heart disease. Nineteen patients (59%) had bilateral moyamoya on presentation, and 13 presented with unilateral disease, of which 2 progressed to surgery on the opposite side at a later date. Patients were followed for a median of 7.5 years (1-20.2 years) after surgery, with no patients lost to follow-up. Follow-up arteriography demonstrated Matsushima Grade A collaterals in 29 of 39 (74%) hemispheres, Grade B in 5 (13%), and Grade C in 5 (13%). Complications included postoperative strokes in 2 patients, which occurred within 48 hours of surgery in both; one of these patients had arm weakness and the other confusion (both had recovered completely at follow-up). Seizures occurred in 5 patients perioperatively, including one who had a new seizure disorder related to hypocalcemia. CONCLUSIONS Moyamoya disease is a cause of stroke in patients with DS. Both the incidence of preoperative stroke (87% vs 67%) and the average age at diagnosis for children under age 21 (8.4 vs 6.5 years) were greater in patients with DS and moyamoya than in the general moyamoya surgical population, suggesting a possible delay in reaching a correct diagnosis of the cause of cerebral ischemia in the DS patient population. Pial synangiosis provided long-term protection from stroke in all patients treated.
烟雾病可导致唐氏综合征（DS）患者发生脑缺血和中风。在本研究中，作者界定了接受手术治疗的DS合并烟雾病患者群体，并将其临床表现、手术治疗反应及长期预后与未患DS的烟雾病患者总体进行比较。方法：本研究是对1985年至2012年在波士顿儿童医院接受手术的一系列连续性DS合并烟雾病患者进行的回顾性研究。结果：32例患者平均年龄9.7岁（范围1.8 - 29.3岁），因DS合并烟雾病接受手术。大多数患者表现为缺血症状（87%为中风，42%为短暂性脑缺血发作）。24例患者（75%）患有先天性心脏病。19例患者（59%）初诊时为双侧烟雾病，13例为单侧病变，其中2例后来对侧也接受了手术。术后患者中位随访时间为7.5年（1 - 20.2年），无失访患者。随访血管造影显示，39个半球中有29个（74%）为松岛A级侧支循环，5个（13%）为B级，5个（%)为C级。并发症包括2例术后中风，均发生在术后48小时内；其中1例患者出现手臂无力，另1例出现意识模糊（随访时均已完全恢复）。围手术期有5例患者发生癫痫，其中1例因低钙血症出现新发癫痫障碍。结论：烟雾病是DS患者中风的一个病因。DS合并烟雾病患者术前中风发生率（87%对67%）及21岁以下儿童的平均诊断年龄（8.4岁对6.5岁）均高于烟雾病手术总体人群，提示DS患者群体中脑缺血病因的正确诊断可能存在延迟。软脑膜血管吻合术为所有接受治疗的患者提供了预防中风的长期保护。
