Unusual Clinical Presentation of Tuberless Tuberous Sclerosis Complex
Unusual Clinical Presentation of Tuberless Tuberous Sclerosis Complex
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DOI：
10.1177/0883073808325659
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发表时间：
2009-03-01
影响因子：
1.9
通讯作者：
Goldberg-Stern, Hadassa
中科院分区：
文献类型：
--
作者：
Kaufmann, Rami;Kornreich, Ljora;Goldberg-Stern, Hadassa
皮质结节是结节性硬化症的标志。在脑成像中，它们的存在是预期的，特别是当癫痫在我1岁或1岁之前开始发作时，伴随着显著的发育迟缓。据报道，块茎数量增加与癫痫发作和认知结果不良有关。我们报告了一名3岁女孩的顽固性癫痫发作。从2个月大的婴儿痉挛开始，被诊断为临床确诊的结节性硬化症。预后不良的体征包括多种癫痫发作类型、1岁前发作和多灶性脑电异常。然而，在重复的脑磁共振成像扫描中，与结节性硬化症相关的已知放射学结果缺失，这引发了诊断难题。因此，进行了遗传分析。在TSC2基因中检测到突变，证实了这一诊断。据我们所知，这是第一例报道的与顽固性癫痫和发育迟缓相关的无结节结节硬化症。
Cortical tubers are the hallmark or tuberous sclerosis. Their presence is expected on brain imaging, especially When seizures begin before I year or age with concomitant significant developmental delay. Increased tuber counts have been reported to be associated with seizures and poor cognitive outcome. We present a 3-year-old girl with intractable seizures that. started as infantile spasms at 2 months of age and who was diagnosed with clinically definitive tuberous sclerosis. Poor prognostic signs included multiple seizure types, seizure onset before 1 year of age, and multifocal electroencephalographic abnormalities. However, on repeated brain magnetic resonance imaging scans, the known radiological findings associated with tuberous sclerosis complex were absent, raising a diagnostic dilemma. Therefore, genetic analysis was performed. A Mutation was detected in the TSC2 gene, confirming the diagnosis. To the best Of Our knowledge, this is the first reported Case Of tuberless tuberous sclerosis complex associated with intractable epilepsy and developmental delay.