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年轻男性患结节性硬化症复合体,伴进行性钙化结节。

Progressive calcified tuber in a young male with tuberous sclerosis complex.

机构信息

Carol and James Herscot Center for Tuberous Sclerosis Complex, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.

出版信息

Dev Med Child Neurol. 2010 Nov;52(11):1062-5. doi: 10.1111/j.1469-8749.2010.03792.x.

Abstract

Tubers are the most common brain lesions in tuberous sclerosis complex (TSC), and typically remain stable in size and appearance. We present the case of a young male with global developmental impairment and autistic features as well as multiple and mixed daily seizures. The patient had a prominent right frontal cortical tuber characterized by a calcified component, which changed on consecutive magnetic resonance imaging between the age of 4 and 11 years, at which time the patient underwent a lesionectomy. A poor long-term outcome is reported since the patient presents an intractable mixed seizure disorder status post-epilepsy surgery and no significant neuropsychological improvements. Histopathology findings show typical characteristics of tubers in TSC as well as numerous calcifications within the resected nodular lesion. This case supports the notion that tubers with calcified components are not necessarily static lesions and can change with time. Investigation of the relationship between the presence of calcification in tubers and epileptogenecity in a large group of patients would provide insights into the pathogenesis of the seizures and cognitive impairment and hopefully, eventually provide better treatment options for patients with TSC.

摘要

结节是结节性硬化症(TSC)中最常见的脑部病变,其大小和外观通常保持稳定。我们报告了一例年轻男性,表现为全面发育障碍和自闭症特征,以及多种混合性日常发作。该患者右侧额叶皮质有一个明显的结节,有钙化成分,在 4 至 11 岁之间的连续磁共振成像中发生了变化,当时患者接受了病灶切除术。由于患者在癫痫手术后表现出难治性混合性发作障碍状态,且神经心理学改善不明显,因此报告了不良的长期预后。组织病理学检查结果显示 TSC 结节的典型特征,以及切除的结节性病变内有大量钙化。该病例支持这样一种观点,即具有钙化成分的结节不一定是静止性病变,它们可能会随时间而变化。对大量患者中结节钙化与致痫性之间的关系进行研究,将有助于深入了解癫痫发作和认知障碍的发病机制,并有望最终为 TSC 患者提供更好的治疗选择。

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