Division of Neurosurgery, Walter Reed National Military Medical Center, Bethesda, MD, USA.
Division of Neurosurgery, Children's National Hospital, Washington, DC, USA.
Childs Nerv Syst. 2024 Aug;40(8):2449-2456. doi: 10.1007/s00381-024-06393-w. Epub 2024 May 16.
Moyamoya disease and syndrome represent rare entities characterized by progressive stenosis and/or occlusion of the intracranial blood vessels. We present our series of patients with moyamoya disease and syndrome stratified by underlying disease and analyze differences in presentation and outcome following surgical revascularization.
This was an Institutional Review Board (IRB) approved, retrospective review of all patients surgically revascularized by the senior author (SNM) while at Children's National Hospital in Washington, DC. Demographic data, presenting symptoms and severity, surgical details, and functional and radiographic outcomes were obtained and analyzed for differences among the underlying cohorts of moyamoya disease and syndrome as well as by unilateral or bilateral disease and index or non-index surgeries.
Twenty-two patients were identified with the following underlying diseases: six with idiopathic moyamoya disease, six with sickle cell anemia, five with trisomy 21, and five with neurofibromatosis type 1. Thirty hemispheres were revascularized with a significantly reduced rate of stroke from 3.19 strokes/year (SD = 3.10) to 0.13 strokes/year (SD = 0.25), p = 0.03. When analyzed by underlying cause of moyamoya syndrome, patients with neurofibromatosis type 1 were found to be significantly less likely than the other subtypes of moyamoya syndrome to have had either a clinical stroke (0.0% neurofibromatosis type 1 vs. 100.0% sickle cell, 60.0% trisomy 21, or 83.3% moyamoya disease, p < 0.01) or radiographic stroke (0.0% neurofibromatosis type 1 vs. 100.0% sickle cell, 60.0% trisomy 21, or 83.3% moyamoya disease, p < 0.01) at time of presentation. Patients with moyamoya syndrome associated with sickle cell disease were more likely to present with clinical and radiographic strokes. Additionally, patients with bilateral disease demonstrated no difference in final functional outcome compared to patients with unilateral disease (mRS 0.73 (SD = 1.33) vs. 1.29 (SD = 1.60), p = 0.63).
Indirect surgical revascularization decreases stroke risk for pediatric patients with different forms of moyamoya disease and moyamoya syndrome. Additionally, these data suggest that sickle cell anemia-associated moyamoya syndrome may represent a more aggressive variant, while neurofibromatosis type 1 may represent a more benign variant.
烟雾病和烟雾综合征代表了罕见的以颅内血管进行性狭窄和/或闭塞为特征的实体。我们报告了一系列由高级作者（SNM）手术治疗的烟雾病和烟雾综合征患者，并按潜在疾病进行分层，分析了手术血运重建后不同表现和结果的差异。
这是一项机构审查委员会（IRB）批准的回顾性研究，对所有在华盛顿特区儿童国家医院由高级作者（SNM）手术治疗的患者进行了研究。获取并分析了人口统计学数据、发病症状和严重程度、手术细节以及功能和影像学结果，以比较烟雾病和烟雾综合征的潜在疾病队列之间的差异，以及单侧或双侧疾病以及指数或非指数手术之间的差异。
确定了 22 例以下潜在疾病的患者：6 例特发性烟雾病，6 例镰状细胞贫血，5 例 21 三体综合征，5 例神经纤维瘤病 1 型。30 个半球进行了血运重建，中风发生率从 3.19 次/年（标准差=3.10）显著降低至 0.13 次/年（标准差=0.25），p=0.03。按烟雾综合征的潜在病因分析，与其他烟雾综合征亚型相比，神经纤维瘤病 1 型患者发生临床中风的可能性显著降低（0.0%神经纤维瘤病 1 型 vs. 100.0%镰状细胞，60.0% 21 三体或 83.3%烟雾病，p<0.01）或影像学中风（0.0%神经纤维瘤病 1 型 vs. 100.0%镰状细胞，60.0% 21 三体或 83.3%烟雾病，p<0.01）的可能性也较低。镰状细胞病相关烟雾综合征患者更有可能出现临床和影像学中风。此外，与单侧疾病患者相比，双侧疾病患者的最终功能结局无差异（mRS 0.73（标准差=1.33）与 1.29（标准差=1.60），p=0.63）。
间接手术血运重建降低了不同形式的烟雾病和烟雾综合征患儿的中风风险。此外，这些数据表明镰状细胞病相关烟雾综合征可能代表一种更具侵袭性的变异，而神经纤维瘤病 1 型可能代表一种更良性的变异。
