Department of Radiology, New York University Langone Medical Center, New York, New York 10016, USA.
AJNR Am J Neuroradiol. 2013 Mar;34(3):655-9. doi: 10.3174/ajnr.A3260. Epub 2012 Sep 6.
There are few articles characterizing cerebellar lesions in patients with TSC and no published series documenting longitudinal evaluation of these lesions, to our knowledge. Recent suggestion of a correlation between autism and cerebellar lesions in patients with TSC heightens the importance of understanding these lesions. Our purpose was to characterize cerebellar lesions in a cohort of young patients with TSC with specific interest in assessing longitudinal changes.
We retrospectively reviewed MR images from 145 pediatric and young adult patients with tuberous sclerosis (mean age, 7.6 years). A number of imaging characteristics of cerebellar tubers were recorded, and patients were evaluated for SGAs. Patients with follow-up scans >3 months from the original scan were further analyzed for longitudinal tuber characterization.
There were 24.1% of patients with focal cerebellar lesions; 52.4% of patients with cerebellar lesions demonstrated change in imaging characteristics during longitudinal analysis. Fifty-one percent of the lesions were enhanced after gadolinium administration. Twenty percent of the patients with cerebellar lesions had pathologically confirmed SGAs compared with the incidence of 11% in the 145 patients with TSC reviewed.
In our large cohort of young patients with TSC, cerebellar tubers were common and 52% of patients had tubers that changed with time. A higher percentage of patients with cerebellar lesions developed SGAs than patients with TSC without cerebellar lesions. Because this is the first reported longitudinal study of cerebellar lesions in TSC, further investigation may provide additional insight into TSC pathology and associated clinical manifestations, such as autism, developmental delay, and seizures.
据我们所知，仅有少数文章对结节性硬化症（TSC）患者的小脑病变进行了特征描述，且尚无研究对这些病变进行纵向评估。最近有研究提示，TSC 患者的自闭症与小脑病变之间存在相关性，这凸显了了解这些病变的重要性。我们的目的是对一组年轻的 TSC 患者的小脑病变进行特征描述，并特别关注评估其纵向变化。
我们回顾性分析了 145 例儿科和青年 TSC 患者的磁共振成像（MRI）资料（平均年龄 7.6 岁）。记录了小脑结节的多种影像学特征，并对患者进行了严重程度分级（SGAs）评估。对原始扫描后随访时间＞3 个月的患者进行进一步分析，以评估小脑结节的纵向特征变化。
24.1%的患者存在局灶性小脑病变；52.4%的患者在纵向分析中表现出影像学特征的改变。51%的病变在钆剂增强后得到强化。20%的小脑病变患者存在经病理证实的 SGAs，而在 145 例接受评估的 TSC 患者中，SGAs 的发生率为 11%。
在我们的大型年轻 TSC 患者队列中，小脑结节很常见，52%的患者结节随时间而变化。与无小脑病变的 TSC 患者相比，有更多的小脑病变患者发生了 SGAs。由于这是 TSC 小脑病变的第一项纵向研究，进一步的研究可能会为 TSC 病理学及其相关临床表现（如自闭症、发育迟缓、癫痫）提供更多的见解。
