Huntsman Richard J, Sinclair D Barry, Richer Lawrence P
Division of Pediatric Neurology, University of Alberta, Alberta, Canada.
Pediatr Neurol. 2006 Mar;34(3):231-4. doi: 10.1016/j.pediatrneurol.2005.08.012.
Tuberous sclerosis is a multisystem disorder that is transmitted in an autosomal dominant fashion. It affects approximately 1 in 10,000 live births. A growing body of evidence implicates a defect of cell maturation and migration in the pathogenesis of many of the lesions in tuberous sclerosis affecting the central nervous system. There have been numerous case reports of various abnormalities of neuronal migration associated with tuberous sclerosis. To our knowledge, there has only been one case of schizencephaly reported in a patient with tuberous sclerosis. The present report describes a male with tuberous sclerosis and an extensive open lipped schizencephalic cleft affecting his right frontoparietal lobe. This case supports the hypothesis that the cerebral lesions in tuberous sclerosis are secondary to a defect in neuronal maturation and migration.
结节性硬化症是一种以常染色体显性方式遗传的多系统疾病。它在每10000例活产中约有1例受影响。越来越多的证据表明，在结节性硬化症影响中枢神经系统的许多病变的发病机制中存在细胞成熟和迁移缺陷。有大量关于与结节性硬化症相关的神经元迁移各种异常的病例报告。据我们所知，仅有1例结节性硬化症患者出现脑裂畸形的报告。本报告描述了1例患有结节性硬化症的男性，其右额顶叶有广泛的开放性唇裂脑裂畸形。该病例支持结节性硬化症中的脑部病变继发于神经元成熟和迁移缺陷这一假说。
