Department of Pediatric Neurology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Department of Pediatric Neurology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Seizure. 2021 Dec;93:44-50. doi: 10.1016/j.seizure.2021.10.010. Epub 2021 Oct 17.
In patients diagnosed with epilepsy, decreased ratio of N-acetyl aspartate to creatine (NAA/Cr) measured in magnetic resonance spectroscopy (MRS) has been accepted as a sign of neuronal cell loss or dysfunction. In this study, we aimed to determine whether a similar neuronal cell loss is present in a group of encephalopathy with electrical status epilepticus in sleep (ESES) patients METHODS: We performed this case-control study at a tertiary pediatric neurology center with patients with ESES. Inclusion criteria for the patient group were as follows: 1) a spike-wave index of at least 50%, 2) acquired neuropsychological regression, 3) normal cranial MRI. Eventually, a total of 21 patients with ESES and 17 control subjects were enrolled in the study. MRI of all control subjects was also within normal limits. 3D Slicer program was used for the analysis of thalamic and brain volumes. LCModel spectral fitting software was used to analyze single-voxel MRS data from the right and left thalamus of the subjects.
The mean age was 8.0 ± 1.88 years and 8.3 ± 1.70 years in ESES patients and the control subjects. After correcting for the main potential confounders (age and gender) with a linear regression model, NAA/Creatine ratio of the right thalamus was significantly lower in the ESES patient group compared to the healthy control group (p = 0.026). Likewise, the left thalamus NAA/Cr ratio was significantly lower in the ESES patient group than the healthy control group (p = 0.007). After correcting for age and gender, right thalamic volume was not statistically significantly smaller in ESES patients than in healthy controls (p = 0.337), but left thalamic volume was smaller in ESES patients than in healthy controls (p = 0.024).
In ESES patients, the NAA/Creatine ratio, which is an indicator of neuronal cell loss or dysfunction in the right and left thalamus, which appears regular on MRI, was found to be significantly lower than the healthy control group. This metabolic-induced thalamic dysfunction, which was reported for the first time up to date, may play a role in ESES epileptogenesis.
在诊断为癫痫的患者中，磁共振波谱（MRS）测量的 N-乙酰天门冬氨酸与肌酸的比值（NAA/Cr）降低已被认为是神经元细胞丢失或功能障碍的标志。在这项研究中，我们旨在确定在一组电持续状态癫痫发作的脑病（ESES）患者中是否存在类似的神经元细胞丢失。
我们在一家三级儿科神经病学中心进行了这项病例对照研究，研究对象为 ESES 患者。患者组的纳入标准如下：1）棘慢波指数至少为 50%，2）获得性神经心理退行，3）头颅 MRI 正常。最终，共有 21 例 ESES 患者和 17 例对照组纳入研究。所有对照组的 MRI 也在正常范围内。使用 3D Slicer 程序分析丘脑和脑体积。使用 LCModel 光谱拟合软件分析受试者右侧和左侧丘脑的单体 MRS 数据。
ESES 患者和对照组的平均年龄分别为 8.0±1.88 岁和 8.3±1.70 岁。在校正线性回归模型的主要潜在混杂因素（年龄和性别）后，ESES 患者组右侧丘脑的 NAA/Creatine 比值明显低于健康对照组（p=0.026）。同样，ESES 患者组左侧丘脑 NAA/Cr 比值明显低于健康对照组（p=0.007）。在校正年龄和性别后，ESES 患者的右侧丘脑体积与健康对照组相比没有统计学意义上的减小（p=0.337），但 ESES 患者的左侧丘脑体积小于健康对照组（p=0.024）。
在 ESES 患者中，右侧和左侧丘脑的 NAA/Creatine 比值，即神经元细胞丢失或功能障碍的指标，在 MRI 上表现正常，但明显低于健康对照组。这种代谢引起的丘脑功能障碍是迄今为止首次报道的，可能在 ESES 癫痫发生中起作用。
