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首页> 外文期刊>The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques >P.058 Tuberous sclerosis complex associated intracranial abnormalities identified in utero via antenatal ultrasound
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P.058 Tuberous sclerosis complex associated intracranial abnormalities identified in utero via antenatal ultrasound

机译：P.058肺结核杂交复合复合物相关的颅内异常通过产前超声鉴定

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Background: Tuberous sclerosis complex (TSC) is characterized by growth of benign tumors in the skin, brain, kidneys, lung and heart. Prognosis is mostly determined by the extent of brain involvement as tumors in the brain lead to seizures and cognitive problems. Epilepsy is highly associated with the cognitive abnormalities in TSC and recent evidence suggests anti-epileptic treatment before onset of seizures reduces epilepsy severity and risk of mental retardation. Screening and potential identification of TSC in utero via ultrasound would allow for prophylactic seizure management in these children. The sensitivity of antenatal ultrasound in the identification of brain abnormalities associated with TSC has not yet been published. In this case, we review the antenatal ultrasounds of a child with TSC for evidence of brain abnormalities in utero. Methods: Retrospective review Results: Retrospective review of antenatal ultrasounds showed some evidence of intracranial abnormalities. Ultrasound at 34 weeks and 4 days gestation revealed an echogenic density in the right ventricle that correlates with SEGA on post-natal MRI brain at 12 days of life. Post-natal brain ultrasound at 37 weeks revealed multiple cranial abnormalities not seen in utero. Conclusions: There are limitations to antenatal neurosonography in the detection of intracranial abnormalities associated with TSC.
机译：背景：肺结核硬化复合体（TSC）的特征在于皮肤，脑，肾，肺和心脏中良性肿瘤的生长。预后主要由脑中受累的程度决定，因为脑中的肿瘤导致癫痫发作和认知问题。癫痫与TSC中的认知异常高度相关，最近的证据表明癫痫发作前的抗癫痫治疗降低了癫痫严重程度和精神发育迟滞的风险。通过超声波筛选和潜在鉴定TSC在这些儿童中允许预防性癫痫发作管理。产前超声在与TSC相关的脑异常鉴定中的敏感性尚未公布。在这种情况下，我们审查了具有TSC的孩子的产前超声，以获得子宫脑异常的证据。方法：回顾性审查结果：对产前超声的回顾性审查显示出颅内异常的一些证据。在34周和4天妊娠的超声揭示了右心室的回声密度，与产后MRI脑后的SEGA在生命的12天内相关。产后脑超声37周，揭示了子宫内未见过多个颅异常。结论：在检测与TSC相关的颅内异常检测中存在局限性。

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