Department of Pediatric Neurology, Great North Children's Hospital, Newcastle-upon-Tyne, UK.
Pediatr Neurol. 2012 Feb;46(2):127-31. doi: 10.1016/j.pediatrneurol.2011.11.017.
Lissencephaly is a disorder of neuronal migration resulting in abnormal cerebral cortical sulcation and gyration. Affected children present with microcephaly, developmental delay, and early-onset epileptic seizures. Recently, de novo missense mutations in the tubulin α-1A (TUBA1A) gene were identified as causing a distinctive radiologic phenotype comprising of posteriorly predominant lissencephaly with dysgenetic corpus callosum, cerebellar and brainstem hypoplasia, and more recently, polymicrogyria. We describe a 14-month-old girl with TUBA1A mutation-associated lissencephaly, and summarize the clinical and neuroradiologic findings of 19 cases in the literature.
无脑回畸形是一种神经元迁移异常导致的疾病，表现为脑皮质异常脑回和脑沟。患儿通常有小头畸形、发育迟缓以及癫痫发作等表现。最近，在微管蛋白α-1A（TUBA1A）基因突变的情况下发现了一种具有独特影像学特征的疾病，包括以后部为主的无脑回畸形，胼胝体发育不良，小脑和脑干发育不良，以及最近出现的多小脑回畸形。我们报道了一例 TUBA1A 突变相关的无脑回畸形患儿，总结了文献中 19 例病例的临床表现和神经影像学特征。
