Daghistani Razan, Rutka James, Widjaja Elysa
Department of Radiology, King Abdulaziz University Hospital, P.O. Box 80200, Jeddah, 21589, Kingdom of Saudi Arabia.
Childs Nerv Syst. 2015 Jan;31(1):109-13. doi: 10.1007/s00381-014-2542-0. Epub 2014 Sep 9.
Cerebellar tubers have been recognized as a feature of tuberous sclerosis complex (TSC), but the evolution of cerebellar tubers with brain maturation remains unclear. The aim of this study was to assess the evolution of MRI characteristics of cerebellar tubers in children with TSC longitudinally.
The MRI features of cerebellar tubers including number, location, shape, enhancement, presence of hemorrhage, calcifications, retraction, and the longitudinal changes of these features were assessed in children with TSC.
Cerebellar tubers were seen in 69/193 (35.8%) cases. Cerebellar tubers were wedge shaped, nodular, or demonstrated folia distortion; 33/101 (32.7%) cerebellar tubers showed enhancement, 29/101 (28.7%) showed calcification, and 75/101 (74.3%) had retraction abnormality. No lesion showed hemorrhage. One hundred fifty-two of our patients had more than one MRI examinations and were followed for a mean of 5.3 years from the time of their first MRI till their last study. Of those with follow-up MRI, 53 patients had cerebellar tubers; 15/53 (28.3%) patients and 20/101 (19.8%) of the cerebellar tubers demonstrated an increase in size, enhancement, or calcification longitudinally. The majority of the increase in size, enhancement, or calcification occurred in the first 8 years of life. None of the cerebellar tubers showed a reduction in size or enhancement. There was no new cerebellar tuber.
We have found an increase in size, enhancement, and calcification of cerebellar tubers which occurred mainly in the first 8 years of life. Further study that correlates the genetics and clinical manifestation with more advanced imaging of the cerebellar tubers may help us understand the underlying neurobiology of the changes in cerebellar tubers.
小脑结节已被确认为结节性硬化症（TSC）的一个特征，但小脑结节随脑成熟的演变尚不清楚。本研究的目的是纵向评估TSC患儿小脑结节的MRI特征演变。
评估TSC患儿小脑结节的MRI特征，包括数量、位置、形状、强化、出血、钙化、退缩情况以及这些特征的纵向变化。
193例患儿中有69例（35.8%）可见小脑结节。小脑结节呈楔形、结节状或表现为小叶变形；101个小脑结节中33个（32.7%）有强化，29个（28.7%）有钙化，75个（74.3%）有退缩异常。无病变显示出血。152例患者接受了不止一次MRI检查，从首次MRI检查到最后一次研究平均随访5.3年。在接受随访MRI检查的患者中，53例有小脑结节；其中15例（28.3%）患者以及20个（19.8%）小脑结节纵向显示大小、强化或钙化增加。大小、强化或钙化的增加大多发生在生命的前8年。没有小脑结节显示大小或强化减小。也没有新的小脑结节出现。
我们发现小脑结节的大小、强化和钙化增加，主要发生在生命的前8年。将遗传学和临床表现与更先进的小脑结节影像学进行关联的进一步研究可能有助于我们理解小脑结节变化的潜在神经生物学机制。
