Department of Radiology, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.
Pediatr Neurol. 2013 Feb;48(2):105-10. doi: 10.1016/j.pediatrneurol.2012.10.011.
The cerebellum plays an important role in motor learning and cognition, and structural cerebellar abnormalities have been associated with cognitive impairment. In tuberous sclerosis complex, neurologic outcome is highly variable, and no consistent imaging or pathologic determinant of cognition has been firmly established. The cerebellum calls for specific attention because mouse models of tuberous sclerosis complex have demonstrated a loss of cerebellar Purkinje cells, and cases of human histologic data have demonstrated a similar loss in patients. We hypothesized that there might be a common cerebellar finding in tuberous sclerosis complex that could be measured as morphometric changes with magnetic resonance imaging. Using a robust, automated image analysis procedure, we studied 36 patients with tuberous sclerosis complex and age-matched control subjects and observed significant volume loss among patients in the cerebellar cortices and vermis. Furthermore, this effect was strongest in a subgroup of 19 patients with a known, pathogenic mutation of the tuberous sclerosis 2 gene and impacted all cerebellar structures. We conclude that patients with tuberous sclerosis complex exhibit volume loss in the cerebellum, and this loss is larger and more widespread in patients with a tuberous sclerosis 2 mutation.
小脑在运动学习和认知中发挥着重要作用，结构性小脑异常与认知障碍有关。在结节性硬化症中，神经学预后差异很大，并且没有明确的影像学或病理学认知决定因素。小脑需要特别注意，因为结节性硬化症的小鼠模型已经证明小脑浦肯野细胞的丧失，并且人类组织学数据的病例已经证明患者中存在类似的丧失。我们假设在结节性硬化症中可能存在一种常见的小脑发现，可以通过磁共振成像测量其形态变化。使用强大的自动图像分析程序，我们研究了 36 名结节性硬化症患者和年龄匹配的对照组，并观察到患者小脑皮质和蚓部的体积明显减少。此外，在已知存在结节性硬化症 2 基因突变的 19 名患者亚组中，这种效应最强，并且影响所有小脑结构。我们的结论是，结节性硬化症患者的小脑存在体积损失，并且在具有结节性硬化症 2 突变的患者中，损失更大且更广泛。
