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首页> 外文期刊>American journal of medical genetics, Part A >Late-onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: Comments on the article by Toriello et al. [2013] and first report of the natural history
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Late-onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: Comments on the article by Toriello et al. [2013] and first report of the natural history

机译:母体维生素K缺乏胚胎病患者的继发于皮质发育异常的迟发性部分复杂性癫痫发作:Toriello等在文章中发表评论。 [2013]和自然历史的第一份报告

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TO THE EDITOR: We read with great interest the article "Maternal Vitamin K Deficient Embryopathy: Association with Hyperemesis Gravidarum and Crohn Disease" by Toriello et al. [2013]. We have been following a 16-year-old female with multiple medical issues including chondrodysplasia punctata, Binder phenotype (Fig. 1), brachytelephalangy, partial complex seizures secondary to cortical dysplasia, Chiari Type II malformation, and tethered cord. Her mother had hyperemesis gravidarum requiring partial parenteral therapy and we believe that her constellation of symptoms can be explained by a similar vitamin K deficiency embryopathy. This is the first report outside of infancy of a patient with symptomatic cortical dysplasia as a result of the syndrome.
机译:致编者:我们非常感兴趣地阅读了Toriello等人的文章“母体维生素K缺乏性胚胎病:妊娠呕吐和克罗恩病的相关性”。 [2013]。我们一直在追踪一名16岁女性,她患有多种医疗问题,包括点状软骨发育不良,Binder表型(图1),近端眼睑痉挛,继发于皮质发育不良的部分复杂性癫痫发作,Chiari II型畸形和系绳。她的母亲有妊娠剧吐,需要部分胃肠外治疗,我们认为她的症状可以通过类似的维生素K缺乏症胚胎病来解释。这是该综合征导致的症状性皮质发育异常的婴儿期以外的首次报道。

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