Gialloreti Leonardo Emberti, Moavero Romina, Marciano Sara, Pardini Matteo, Benassi Francesca, Mutolo Maria Giulia, Curatolo Paolo
Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy.
Childs Nerv Syst. 2015 Jun;31(6):857-61. doi: 10.1007/s00381-015-2702-x. Epub 2015 Apr 25.
The aim of our study was to non-invasively investigate central nervous system axonal integrity in patients with tuberous sclerosis complex (TSC). Diffuse microstructural white matter abnormalities reflecting axonal disorganization, reduced/altered myelination, or gliosis have been described in individuals with TSC. Optical coherence tomography (OCT) is a fast, easy-to-perform, non-invasive, and cost-efficient method to assess retinal morphology in vivo and to measure the thickness of the retinal nerve fiber layer (RNFL).
In order to assess central nervous system axonal integrity, eight subjects with TSC have been investigated by OCT to evaluate RNFL and they have been compared with matched healthy controls.
When comparing mean overall RNFL thicknesses of the TSC group with those of the control group, the TSC group presented with significantly lower RNFL values, compared to the control group, in the temporal quadrant (62.5 ± 6.9 vs. 76.9 ± 5.4; t = 14.438; p < 0.0001).
Since a reduced RNFL thickness might be seen as an indicator of chronic axonal degeneration or lack of appropriate neuronal development, our results support the presence of axonal alterations in TSC and also that white matter disorganization could be much more diffuse than originally thought. Since axonal alterations directly derive from mammalian target of rapamycin (mTOR) overactivation, which occurs early during fetus development, the RNFL thinning we observed could represent one of the facets of such early neurodevelopmental abnormalities.
我们研究的目的是对结节性硬化症（TSC）患者的中枢神经系统轴突完整性进行无创性研究。在TSC患者中已描述了反映轴突紊乱、髓鞘形成减少/改变或胶质增生的弥漫性微观结构白质异常。光学相干断层扫描（OCT）是一种快速、易于操作、无创且经济高效的方法，可在体内评估视网膜形态并测量视网膜神经纤维层（RNFL）的厚度。
为了评估中枢神经系统轴突完整性，对8名TSC患者进行了OCT检查以评估RNFL，并将他们与匹配的健康对照进行比较。
将TSC组的平均总体RNFL厚度与对照组进行比较时，TSC组在颞侧象限的RNFL值明显低于对照组（62.5±6.9 vs. 76.9±5.4；t = 14.438；p < 0.0001）。
由于RNFL厚度降低可能被视为慢性轴突变性或缺乏适当神经元发育的指标，我们的结果支持TSC中存在轴突改变，并且白质紊乱可能比最初认为的更为弥漫。由于轴突改变直接源于哺乳动物雷帕霉素靶蛋白（mTOR）过度激活，而这种激活发生在胎儿发育早期，我们观察到的RNFL变薄可能代表了这种早期神经发育异常的一个方面。
