Mandibulofacial dysostosis with microcephaly: A case presenting with seizures

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• 作者：Mari Matsuo^a ; Akemi Yamauchi^a ; Yasushi Ito^b ; Masako Sakauchi^b ; Toshiyuki Yamamoto^c ; Nobuhiko Okamoto^d ; Yoshinori Tsurusaki^e ; Noriko Miyake^e ; Naomichi Matsumoto^e ; Kayoko Saito^a ; ^{saito.kayoko@twmu.ac.jp}
• 关键词：Mandibulofacial dysostosis with microcephaly ; MFDM ; EFTUD2 ; Seizure ; Spliceosome
• 刊名：Brain and Development
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：39
• 期：2
• 页码：177-181
• 全文大小：848 K
• 卷排序：39

文摘

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.