Mandibulofacial dysostosis with microcephaly: A case presenting with seizures
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures
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DOI：
10.1016/j.braindev.2016.08.008
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发表时间：
2017-02-01
影响因子：
1.7
通讯作者：
Saito, Kayoko
中科院分区：
文献类型：
--
作者：
Matsuo, Mari;Yamauchi, Akemi;Saito, Kayoko
我们报告一个下颚颜面骨发育不全合并小头畸形的病例。先证者是一名6岁的韩国男孩，患有小头畸形、颧骨和下颌骨发育不全和耳聋。他表现出发育迟缓，并在21个月大时开始反复发作。脑电图显示右额叶偶尔出现尖峰放电。头部磁共振成像显示侧脑室扩张和额叶体积小。全外显子组测序显示EFTUD 2的从头移码突变，c.2698_2701 del。癫痫灶与头部磁共振成像上额叶体积减少一致。因此，癫痫发作是下颌面骨发育不全伴小头畸形的主要特征，其由EFTUD 2突变引起的胚胎发育缺陷引起。2016日本儿童神经病学学会。Elsevier B.V.出版，保留所有权利。
We report a case of mandibulofacial dysostosis with microcephaly presenting with seizures. The proband, a 6-year-old Korean boy, had microcephaly, malar and mandibular hypoplasia, and deafness. He showed developmental delay and had suffered recurrent seizures beginning at 21 months of age. Electroencephalography revealed occasional spike discharges from the right frontal area. Head magnetic resonance imaging revealed dilatation of the lateral ventricles and a small frontal lobe volume. Whole exome sequencing revealed a de novo frame shift mutation, c.2698_2701 del, of EFTUD2. The epileptic focus was consistent with the reduced frontal lobe volume on head magnetic resonance imaging. Seizures are thus a main feature of mandibulofacial dysostosis with microcephaly, which results from an embryonic development defect due to the EFTUD2 mutation. 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.