Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex
Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex
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DOI：
10.1212/01.wnl.0000345365.92821.86
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发表时间：
2009-03-31
期刊：
影响因子：
9.9
通讯作者：
Thiele, Elizabeth
中科院分区：
文献类型：
--
作者：
Chu-Shore, Catherine J.;Major, Philippe;Thiele, Elizabeth
背景资料：多发性硬化症（TSC）是一种遗传性疾病，其特征是在多个器官（包括大脑中的结节）中存在错构瘤性病变。大多数TSC患者患有癫痫。一些皮质结节是癫痫灶，而另一些则表现为生理性静止。这是未知的，是否在块茎形态的变化可能会导致这种差异。本研究的目的是确定的频率与TSC患者的囊肿样结节，囊肿样结节是否与TSC基因型相关，以及囊肿样皮质结节是否与婴儿痉挛症，癫痫，或难治性epilepsy.Methods的历史：一个回顾性的图表审查进行了173例TSC。评价MRI图像是否存在至少一个囊肿样皮质结节。然后对患者病历进行了基因突变、婴儿痉挛症、癫痫和三种以上药物难治性癫痫病史的回顾。结果：共有46%的患者在神经影像学上至少有一个囊肿样皮质结节。与TSC 1突变患者（p = 0.002）或未发现突变的患者（p = 0.039）相比，TSC 2突变患者更可能出现囊肿样结节。至少有一个囊肿样皮质结节的患者更可能有婴儿痉挛症病史（p = 0.00005），癫痫（p = 0.0038）和难治性癫痫（p = 0.0007）。结论：在结节性硬化症患者中，囊肿样皮质结节与TSC 2基因突变和更具侵袭性的癫痫发作表型密切相关。神经病学（R）2009;72：1165-1169
Background: Tuberous sclerosis complex (TSC) is a genetic condition characterized by the presence of hamartomatous lesions in multiple organs, including tubers in the brain. The majority of patients with TSC have epilepsy. Some cortical tubers are epileptic foci, while others appear to be physiologically quiescent. It is unknown whether variations in tuber morphology may account for this difference. The objectives of this study were to determine the frequency of cyst-like tubers in patients with TSC, whether cyst-like tubers correlate with TSC genotype, and whether cyst-like cortical tubers are associated with a history of infantile spasms, epilepsy, or refractory epilepsy.Methods: A retrospective chart review was performed of 173 patients with TSC. MRI images were evaluated for the presence of at least one cyst-like cortical tuber. Patient charts were then reviewed for genetic mutation, a history of infantile spasms, epilepsy, and epilepsy refractory to more than three medications.Results: A total of 46% of patients had at least one cyst-like cortical tuber present on neuroimaging. Patients with a TSC2 mutation were more likely to have a cyst-like tuber than patients with TSC1 mutation (p = 0.002) or patients with no mutation identified (p = 0.039). Patients with at least one cyst-like cortical tuber were more likely to have a history of infantile spasms (p = 0.00005), epilepsy (p = 0.0038), and refractory epilepsy (p = 0.0007) than patients without a cyst-like cortical tuber.Conclusion: Cyst-like cortical tubers are strongly associated with TSC2 gene mutation and a more aggressive seizure phenotype in patients with tuberous sclerosis complex. Neurology (R) 2009;72:1165-1169