Management of sagittal craniosynostosis: morphological comparison of eight surgical techniques

The aim of this study was to carry out a retrospective multicentre study comparing the morphological outcome of 8 techniques used for the management of sagittal synostosis versus a large cohort of control patients. Computed tomographic (CT) images were obtained from children CT-scanned for non-craniosynostosis related events (n = 241) and SS patients at preoperative and postoperative follow-up stages (n = 101). No significant difference in morphological outcomes was observed between the techniques considered in this study. However, the majority of techniques showed a tendency for relapse. Further, the more invasive procedures at older ages seem to lead to larger intracranial volume compared to less invasive techniques at younger ages. This study can be a first step towards future multicentre studies, comparing surgical results and offering a possibility for objective benchmarking of outcomes between methods and centres.     

De novo p.G696S mutation in COL4A1 causes intracranial calcification and late-onset cerebral hemorrhage: A case report and review of the literature

BackgroundThe collagen type IV alpha 1 chain (COL4A1) is an essential component of the basement membrane in small vessels. Pathogenic variants in COL4A1 cause perinatal cerebral hemorrhages in an autosomal-dominant fashion. However, little is known about the long-term outcomes of patients with mildly affecting COL4A1 mutations.Case reportWe report a 17-year-old boy, who presented with recurrent intracranial hemorrhages in the periventricular white matter. He had been followed-up as a child with cerebral palsy bearing intracranial calcifications, developmental delay and epilepsy. Screening tests in infancy provided negative results for intrauterine infections. Severe motor and cognitive deficits persisted after admission. Carbazochrome was introduced on day 19 of admission, which appeared to prevent extension and reactivation of cerebral hemorrhages for over 6 months after discharge.ResultsTargeted sequencing of NOTCH3 and TREX1 excluded causal mutations in these genes. The whole-exome sequencing revealed that he carried a de novo mutation in COL4A1 (p.Gly696Ser). An overview of the literature for 345 cases with COL4A1 mutations supported evidence that p.Gly696Ser is associated with the unique phenotype of late-onset hemorrhage among patients with COL4A1-associated cerebral angiopathy.ConclusionsThis case first demonstrates that infants with COL4A1-associated leukoencephalopathy and calcifications have a risk for developing the rupture of small vessels in the cerebral white matter after 10 years of age.     

高渗盐水和甘露醇在动脉瘤性蛛网膜下腔出血患者降低颅内压中的应用

目的比较3%高渗盐水和20%甘露醇治疗重症动脉瘤性蛛网膜下腔出血所致颅内压增高的疗效.方法25例动脉瘤性蛛网膜下腔出血患者出现颅内压增高事件时, 随机交替接受等渗透剂量的160 mL 3%高渗盐水与150 mL 20%甘露醇进行降低颅内压治疗, 连续监测患者颅内压、平均动脉压、脑灌注压及中心静脉压.记录有效降低颅内压持续时间、颅内压最大降幅及其时间, 用药前及用药后1 h、3 h血钠水平及血浆渗透压.结果3%高渗盐水和20%甘露醇均可降低颅内压(均 P < 0.01), 两者的降低颅内压作用持续时间及颅内压降幅差异均无统计学意义(均 P >0.05).患者脑灌注压较用药前均上升(均 P < 0.01), 平均动脉压先上升后下降, 但差异无统计学意义( P >0.05).患者中心静脉压稍有波动, 但差异均无统计学意义(均 P >0.05).20%甘露醇治疗后患者血钠下降, 3%高渗盐水治疗后患者血钠值上升, 变化均有统计学意义(均 P < 0.05).20%甘露醇及3%高渗盐水治疗后患者血浆渗透压均先上升后下降, 变化均有统计学意义(均 P < 0.01). 结论3%高渗盐水可作为治疗动脉瘤性蛛网膜下腔出血所致颅内压增高患者的一线治疗药物.     

Multiple pipeline embolization devices improves aneurysm occlusion without increasing morbidity: A single center experience of 140 cases

IntroductionRates of aneurysm occlusion with the pipeline embolization device (PED) has varied widely in the literature from 55.7% to 93.3% at 6 months, which may reflect a difference in technique including sizing and number of devices used.Methods140 cases at our institution were retrospectively reviewed, and aneurysms treated with a single PED vs. multiple were compared.ResultsComplete aneurysm occlusion was achieved in 86.9% at 6 months, 91.8% at 1 year, and 97.6% at longest follow-up. Retreatment with an additional device was required in 7 (5.1%). Major and minor complication rate within 30 days was 1.4% and 5.0%, and at greater than 30 days was 0.8% and 3.1%.Patients treated with multiple PEDs had significantly higher rates of aneurysm occlusion at 6 months (92.9% vs. 75.6%, p = 0.017) and 12 months (98.4% vs. 81.1%, p = 0.014), with no difference in complications. The two groups were similar aside from a higher number of ophthalmic and paraophthalmic aneurysms treated with multiple PEDs (23.4% vs. 6.5%, p = 0.004; and 35.1% vs. 17.4%, p = 0.020), and more posterior communicating artery and recurrent aneurysms treated with a single PED (28.3% vs. 3.2%, p = 0.001; 23.9% vs. 8.5%, p = 0.031). The use of multiple PEDs was found to be an independent predictor of aneurysm occlusion in a multivariate analysis (p = 0.015).ConclusionsThe use of multiple PEDs for intracranial aneurysms leads to significantly higher occlusion rates without added morbidity. This benefit is particularly appropriate for ophthalmic segment aneurysms, while more distal segments with eloquent perforating branches should be managed with caution.     

Investigating the association between eye colour and the Neurological Pupil index

IntroductionBrown or dark brown eyes make it difficult to distinguish the contrast between a black pupil and the surrounding iris, which may result in clinical assessment errors. The pupillometer can be used to derive an indexed value, the Neurological Pupil index™ (NPi) for pupillary light reflex. However, there are limited data associating the NPi and iris colour. We examine the NPi and eye colour association.MethodsData were pooled from the Establishing Normative Data for Pupillometer Assessments in Neuroscience Intensive Care (END-PANIC) Registry. The analysis includes 14,168 observations collected from 865 patients with neurological conditions who were admitted to the intensive care unit. Summary statistics and statistical models were developed to examine the association using Statistical Analysis Software (SAS) summary procedure.ResultsThe mean age of the cohort was 56 years (standard deviation = 17). Eye colour included dark brown (n = 339), blue (n = 234), brown (n = 173), green (n = 82), and other (n = 37). There was significant differences (p < 0.0001) between mean NPi values by eye colour [blue = 4.08 (0.92), brown = 3.34 (1.45), dark = 3.71 (1.33), green = 4.08 (0.67), other = 3.76 (1.25)]. However, a further random-effects mixed model after controlling for confounding variables revealed no significant difference in NPi values among different eye colour groups.ConclusionsThe pupillary light reflex, when assessed using the pupillometer, is not dependent on the eye colour. Practitioners are not required to consider eye colour as a confounder when they perform pupillary assessment for examining patients with neurological conditions.     

体视学法在颅内血肿体积测量的应用

目的介绍改进后的体视学法测量颅内血肿体积,并验证其准确性。方法在92例颅内出血的CT图像上,同时运用体视法、CT定量法测量颅内血肿体积,以CT定量法的结果为标准验证体视法的准确性。结果按血肿体积大小分为5组,各组CT定量法、体视学法所测得体积采用配对样本的t检验分析P值皆大于0.05,即CT定量法、体视学法所测血肿体积无统计学差异。结论体视学法测量颅内血肿准确可靠,在CT工作站对颅内血肿病例行胶片打印排版时,在图像上加上合适的网格,可方便临床医生快速运用体视法准确测量颅内血肿体积。     

以失用为主要表现的胼胝体梗死

目的探讨胼胝体梗死的临床表现、病因及鉴别诊断特点。方法对2005年7月收治的1例53岁男性胼胝体梗死患者的临床表现、影像学特点、病因机制及其治疗过程进行回顾分析。结果临床主要表现为发作性黑蒙、言语不利,既往有高血压、糖尿病、脑梗死、吸烟、饮酒史,体格检查以失用为主要表现。头部MRI检查可见左侧脑室旁、胼胝体梗死,右侧基底节、脑桥陈旧性腔隙性梗死;脑血管造影检查显示为多发性血管狭窄,其中以左侧大脑中动脉、右侧颈内动脉及基底动脉最为严重。经颈内动脉内膜剥离术及颈内动脉支架植入术治疗,临床症状缓解。结论失用可以是胼胝体梗死的主要表现,其病因是在脑动脉粥样硬化基础上的血流动力学改变,患者预后良好。     

脂蛋白脂酶Hind Ⅲ基因多态性与动脉硬化性脑梗死的关系

目的研究脂蛋白脂酶HindⅢ基因多态性与动脉硬化性脑梗死发病的关系及其对血脂、颈动脉斑块的影响。方法选择166例动脉硬化性脑梗死患者，采用聚合酶链反应-限制性片段长度多态性分析检测脂蛋白脂酶的HindⅢ基因多态性，颈动脉超声多普勒检查颈总动脉内膜中层厚度和颈动脉斑块，并与72名健康对照比较。结果在脑梗死组中H＋H＋基因型频率和H＋等位基因频率明显高于对照组（OR=2．267，P=0．004；OR=1．903，P=0．004），而血脂水平、颈总动脉内膜中层厚度、颈动脉斑块分级与对照组比较差异无统计学意义。结论脂蛋白脂酶的HindⅢ基因多态性与脑梗死的关系密切，H＋H＋基因型可能是脑梗死的危险因素。