2. Academic Validation
  3. Mandibulofacial dysostosis with microcephaly: A case presenting with seizures

Mandibulofacial dysostosis with microcephaly: A case presenting with seizures

  • Brain Dev. 2017 Feb;39(2):177-181. doi: 10.1016/j.braindev.2016.08.008.
Mari Matsuo 1,  Akemi Yamauchi 1,  Yasushi Ito 2,  Masako Sakauchi 2,  Toshiyuki Yamamoto 3,  Nobuhiko Okamoto 4,  Yoshinori Tsurusaki 5,  Noriko Miyake 5,  Naomichi Matsumoto 5,  Kayoko Saito 6
Affiliations

Affiliations

  • 1 Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
  • 2 Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
  • 3 Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.
  • 4 Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
  • 5 Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • 6 Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. Electronic address: [email protected].
PMID: 27670155 DOI: 10.1016/j.braindev.2016.08.008
Abstract

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.

Keywords

EFTUD2; MFDM; Mandibulofacial dysostosis with microcephaly; Seizure; Spliceosome.

Figures