Goodman M, Lamm S H, Engel A, Shepherd C W, Houser O W, Gomez M R
Johns Hopkins University School of Public Health, Baltimore, MD, USA.
J Child Neurol. 1997 Feb;12(2):85-90. doi: 10.1177/088307389701200203.
The relationship between the number of cortical tubers observed by magnetic resonance imaging (MRI) and the severity of cerebral dysfunction of tuberous sclerosis patients has been examined in a meta-analysis of the published literature. The literature review has identified five independent studies for examining the association. These studies consistently reveal that the cortical tuber count detected on MRI scans is increased among those with more severe cerebral disease. Severity of the cerebral dysfunction is measured by the seizure status and its control and by the developmental status and the level of mental retardation. Meta-analysis demonstrates that within a study population, the MRI-detected cortical tuber count is six times more likely to be above the median count for tuberous sclerosis patients with severe cerebral dysfunction (poor seizure control or moderate-severe retardation or both) than more mildly affected tuberous sclerosis patients. Similarly, across studies, moderately to severely affected patients are five times more likely to have greater than seven MRI-detected cortical tubers than those more mildly affected. These associations are both statistically significant and strong. The cortical tuber count is a biomarker that reasonably predicts the severity of cerebral dysfunction of tuberous sclerosis. Cortical tubers of tuberous sclerosis form in the early gestational period. The embryologic disruption determining the clinical severity of the cortical dysfunction of tuberous sclerosis is set in the early gestational period.
在一项已发表文献的荟萃分析中，研究了通过磁共振成像（MRI）观察到的皮质结节数量与结节性硬化症患者脑功能障碍严重程度之间的关系。文献综述确定了五项独立研究来检验这种关联。这些研究一致表明，在脑部疾病较严重的患者中，MRI扫描检测到的皮质结节计数增加。脑功能障碍的严重程度通过癫痫发作状态及其控制情况、发育状态和智力迟钝水平来衡量。荟萃分析表明，在研究人群中，对于患有严重脑功能障碍（癫痫控制不佳或中度至重度智力迟钝或两者兼有）的结节性硬化症患者，MRI检测到的皮质结节计数高于中位数计数的可能性是受影响较轻的结节性硬化症患者的六倍。同样，在各项研究中，中度至重度受影响的患者出现超过七个MRI检测到的皮质结节的可能性是受影响较轻患者的五倍。这些关联在统计学上均具有显著性且很强。皮质结节计数是一种能够合理预测结节性硬化症脑功能障碍严重程度的生物标志物。结节性硬化症的皮质结节在妊娠早期形成。决定结节性硬化症皮质功能障碍临床严重程度的胚胎学破坏发生在妊娠早期。
