Teo Mario, Johnson Jeremiah N, Bell-Stephens Teresa E, Marks Michael P, Do Huy M, Dodd Robert L, Bober Michael B, Steinberg Gary K
Departments of 1 Neurosurgery and.
Radiology, Stanford University Medical Center, Palo Alto, California; and.
J Neurosurg Pediatr. 2016 Dec;25(6):717-723. doi: 10.3171/2016.6.PEDS16243. Epub 2016 Sep 9.
OBJECTIVE Majewski osteodysplastic primordial dwarfism Type II (MOPD II) is a rare genetic disorder. Features of it include extremely small stature, severe microcephaly, and normal or near-normal intelligence. Previous studies have found that more than 50% of patients with MOPD II have intracranial vascular anomalies, but few successful surgical revascularization or aneurysm-clipping cases have been reported because of the diminutive arteries and narrow surgical corridors in these patients. Here, the authors report on a large series of patients with MOPD II who underwent surgery for an intracranial vascular anomaly. METHODS In conjunction with an approved prospective registry of patients with MOPD II, a prospectively collected institutional surgical database of children with MOPD II and intracranial vascular anomalies who underwent surgery was analyzed retrospectively to establish long-term outcomes. RESULTS Ten patients with MOPD II underwent surgery between 2005 and 2012; 5 patients had moyamoya disease (MMD), 2 had intracranial aneurysms, and 3 had both MMD and aneurysms. Patients presented with transient ischemic attack (TIA) (n = 2), ischemic stroke (n = 2), intraparenchymal hemorrhage from MMD (n = 1), and aneurysmal subarachnoid hemorrhage (n = 1), and 4 were diagnosed on screening. The mean age of the 8 patients with MMD, all of whom underwent extracranial-intracranial revascularization (14 indirect, 1 direct) was 9 years (range 1-17 years). The mean age of the 5 patients with aneurysms was 15.5 years (range 9-18 years). Two patients experienced postoperative complications (1 transient weakness after clipping, 1 femoral thrombosis that required surgical repair). During a mean follow-up of 5.9 years (range 3-10 years), 3 patients died (1 of subarachnoid hemorrhage, 1 of myocardial infarct, and 1 of respiratory failure), and 1 patient had continued TIAs. All of the surviving patients recovered to their neurological baseline. CONCLUSIONS Patients with MMD presented at a younger age than those in whom aneurysms were more prevalent. Microneurosurgery with either intracranial bypass or aneurysm clipping is extremely challenging but feasible at expert centers in patients with MOPD II, and good long-term outcomes are possible.
目的 马耶夫斯基Ⅱ型骨发育不全性原发性侏儒症（MOPDⅡ）是一种罕见的遗传性疾病。其特征包括身材极度矮小、严重小头畸形以及智力正常或接近正常。既往研究发现，超过50%的MOPDⅡ患者存在颅内血管异常，但由于这些患者的动脉细小且手术通道狭窄，成功的手术血管重建或动脉瘤夹闭病例报道较少。在此，作者报告了一大系列接受颅内血管异常手术的MOPDⅡ患者。方法 结合一项已获批的MOPDⅡ患者前瞻性登记研究，对一个前瞻性收集的MOPDⅡ合并颅内血管异常且接受手术的儿童机构手术数据库进行回顾性分析，以确定长期预后。结果 2005年至2012年期间，10例MOPDⅡ患者接受了手术；5例患有烟雾病（MMD），2例患有颅内动脉瘤，3例同时患有MMD和动脉瘤。患者表现为短暂性脑缺血发作（TIA）（n = 2）、缺血性卒中（n = 2）、MMD导致的脑实质内出血（n = 1）和动脉瘤性蛛网膜下腔出血（n = 1），4例通过筛查确诊。8例MMD患者的平均年龄为9岁（范围1 - 17岁），所有患者均接受了颅外 - 颅内血管重建术（14例间接，1例直接）。5例动脉瘤患者的平均年龄为15.5岁（范围9 - 18岁）。2例患者出现术后并发症（1例夹闭后短暂性肌无力，1例股静脉血栓形成需手术修复）。在平均5.9年（范围3 - 10年）的随访期间，3例患者死亡（1例死于蛛网膜下腔出血，1例死于心肌梗死，1例死于呼吸衰竭），1例患者持续出现TIA。所有存活患者均恢复至神经功能基线水平。结论 MMD患者的发病年龄比动脉瘤更为常见的患者年轻。对于MOPDⅡ患者，颅内搭桥或动脉瘤夹闭的显微神经外科手术极具挑战性，但在专业中心是可行的，且可能获得良好的长期预后。
