Brain abnormalities in tuberous sclerosis complex
Brain abnormalities in tuberous sclerosis complex
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DOI：
10.1177/08830738040190090401
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发表时间：
2004-09-01
影响因子：
1.9
通讯作者：
DiMario, FJ
中科院分区：
文献类型：
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作者：
DiMario, FJ
结节性硬化症是一种染色体显性多系统疾病。自发突变发生在高达 60% 的患者中，其基因位点位于染色体 9q34 (TSC1) 和 16p13 (TSC2) 上。通过识别各种神经皮肤标志物和多器官系统错构瘤来建立诊断。严重程度的不同表现、认知功能障碍的可能性和癫痫使临床情况更加复杂。颅内异常包括识别迁移性和错构瘤性脑病变，例如结节、室管膜下结节和室管膜下巨细胞星形细胞瘤。许多其他神经影像学和形态测量异常并存，可以用当前的神经影像学技术来识别。这篇综述检查了结节性硬化症中遇到的大脑异常的范围，并将它们不仅表现为病变的集合，而且在整体神经元迁移障碍的背景下更具有凝聚力。
Tuberous sclerosis complex is an amosomal dominant multisystem disorder. Spontaneous mutations occur in up to 60% of patients with gene loci located on chromosomes 9q34 (TSC1) and 16p13 (TSC2). Diagnosis is established with the identification of various neurocutaneous markers and multiple organ system hamartomas. The variable expression of severity, the potential for cognitive dysfunction, and epilepsy compound the clinical picture. The intracranial abnormalities include the identification of migration and hamartomatous brain lesions, such as tubers, subependymal nodules, and subependymal giant cell astrocytomas. A number of other neuroimaging and morphometric abnormalities coexist, which can be identified with current neuroimaging techniques. This review examines the spectrum of brain abnormalities encountered in tuberous sclerosis complex and presents them as not merely a collection of lesions but more cohesively in the context of a global neuronal migration disorder.