Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.
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.
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Mari
M
Matsuo
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
Akemi
A
Yamauchi
Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
Yasushi
Y
Ito
Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan.
Masako
M
Sakauchi
Institute for Integrated Medical Sciences, Tokyo Women's Medical University, Tokyo, Japan.
Toshiyuki
T
Yamamoto
Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
Nobuhiko
N
Okamoto
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Yoshinori
Y
Tsurusaki
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Noriko
N
Miyake
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Naomichi
N
Matsumoto
Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. Electronic address: saito.kayoko@twmu.ac.jp.
Kayoko
K
Saito
D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D004252:DNA Mutational Analysis; D002658:Developmental Disabilities / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D003937:Diagnosis, Differential; D005145:Face / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology*; D008831:Microcephaly / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology*; D010445:Peptide Elongation Factors / Q000235:genetics; D017415:Ribonucleoprotein, U5 Small Nuclear / Q000235:genetics; D012640:Seizures / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology*
C581608:EFTUD2 protein, human; D010445:Peptide Elongation Factors; D017415:Ribonucleoprotein, U5 Small Nuclear
EFTUD2; MFDM; Mandibulofacial dysostosis with microcephaly; Seizure; Spliceosome