Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts
Lissencephaly With Brainstem and Cerebellar Hypoplasia and Congenital Cataracts
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DOI：
10.1177/0883073813485637
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发表时间：
2014-06-01
影响因子：
1.9
通讯作者：
Salman, Michael S.
中科院分区：
文献类型：
--
作者：
Abumansour, Iman S.;Wrogemann, Jens;Salman, Michael S.
经典的无脑畸形可能与小脑发育不全有关，当发生明显的小脑异常时，TUBA1A、RELN 和极低密度脂蛋白受体 (VLDLR) 基因编码的蛋白质会出现缺陷。我们介绍了一名患有严重神经表型的新生儿，伴有肌张力低下、需要胃管喂养的口咽不协调、顽固性癫痫和先天性白内障。她的脑部磁共振成像（MRI）显示典型的无脑畸形、脑室扩大、胼胝体、球状和垂直海马缺如，以及严重的小脑和脑干发育不全。她在六周大时去世。没有进行具体的分子诊断。这可能代表了一种先前未描述的遗传性无脑畸形综合征。
Classical lissencephaly may be associated with cerebellar hypoplasia and when significant cerebellar abnormalities occur, defects in proteins encoded by TUBA1A, RELN, and very-low-density lipoprotein receptor (VLDLR) genes have been reported. We present a neonate with a severe neurologic phenotype associated with hypotonia, oropharyngeal incoordination that required a gastric tube for feeding, intractable epilepsy, and congenital cataracts. Her brain magnetic resonance imaging (MRI) showed classical lissencephaly, ventriculomegaly, absent corpus callosum, globular and vertical hippocampi, and severe cerebellar and brainstem hypoplasia. She died at 6 weeks of age. No specific molecular diagnosis was made. This likely represents a previously undescribed genetic lissencephaly syndrome.