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Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.
Brain Dev. 2017 Feb; 39(2):177-181.BD

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.

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Publisher Full Text (DOI)

Authors+Show Affiliations

Matsuo M
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Yamauchi A
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Ito Y
Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
Sakauchi M
Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
Yamamoto T
Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.
Okamoto N
Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Tsurusaki Y
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Miyake N
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Matsumoto N
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Saito K
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. Electronic address: saito.kayoko@twmu.ac.jp.

MeSH

BrainChildDNA Mutational AnalysisDevelopmental DisabilitiesDiagnosis, DifferentialFaceHumansMagnetic Resonance ImagingMaleMandibulofacial DysostosisMicrocephalyPeptide Elongation FactorsRibonucleoprotein, U5 Small NuclearSeizures

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

27670155

Citation

Matsuo, Mari, et al. "Mandibulofacial Dysostosis With Microcephaly: a Case Presenting With Seizures." Brain & Development, vol. 39, no. 2, 2017, pp. 177-181.
Matsuo M, Yamauchi A, Ito Y, et al. Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. Brain Dev. 2017;39(2):177-181.
Matsuo, M., Yamauchi, A., Ito, Y., Sakauchi, M., Yamamoto, T., Okamoto, N., Tsurusaki, Y., Miyake, N., Matsumoto, N., & Saito, K. (2017). Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. Brain & Development, 39(2), 177-181. https://doi.org/10.1016/j.braindev.2016.08.008
Matsuo M, et al. Mandibulofacial Dysostosis With Microcephaly: a Case Presenting With Seizures. Brain Dev. 2017;39(2):177-181. PubMed PMID: 27670155.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. AU - Matsuo,Mari, AU - Yamauchi,Akemi, AU - Ito,Yasushi, AU - Sakauchi,Masako, AU - Yamamoto,Toshiyuki, AU - Okamoto,Nobuhiko, AU - Tsurusaki,Yoshinori, AU - Miyake,Noriko, AU - Matsumoto,Naomichi, AU - Saito,Kayoko, Y1 - 2016/09/23/ PY - 2016/05/27/received PY - 2016/08/03/revised PY - 2016/08/22/accepted PY - 2016/9/28/pubmed PY - 2017/2/15/medline PY - 2016/9/28/entrez KW - EFTUD2 KW - MFDM KW - Mandibulofacial dysostosis with microcephaly KW - Seizure KW - Spliceosome SP - 177 EP - 181 JF - Brain & development JO - Brain Dev VL - 39 IS - 2 N2 - 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. SN - 1872-7131 UR - https://www.unboundmedicine.com/medline/citation/27670155/Mandibulofacial_dysostosis_with_microcephaly:_A_case_presenting_with_seizures_ DB - PRIME DP - Unbound Medicine ER -