Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.

Mari Matsuo, Akemi Yamauchi, Yasushi Ito, Masako Sakauchi, Toshiyuki Yamamoto, Nobuhiko Okamoto, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto, Kayoko Saito

Brain & development 2017 Feb

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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 21months 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. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Citation

Mari Matsuo, Akemi Yamauchi, Yasushi Ito, Masako Sakauchi, Toshiyuki Yamamoto, Nobuhiko Okamoto, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto, Kayoko Saito. Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. Brain & development. 2017 Feb;39(2):177-181