title: Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy.
abstract: Here, we report a male child with Schinzel-Giedion syndrome associated with intramyelinic edema detected on brain magnetic resonance imaging (MRI) and persistent suppression-burst pattern on electroencephalography (EEG) with erratic myoclonus of the extremities and face. Similar to nonketotic hyperglycinemia, Schinzel-Giedion syndrome may be recognized as another causative genetic disease of early myoclonic encephalopathy and vacuolating myelinopathy.
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Taihakuku, Sendai, Japan.
authors.forename: Shuei
authors.initials: S
authors.lastname: Watanabe
authors.forename: Akitoshi
authors.initials: A
authors.lastname: Murayama
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Haginoya
authors.forename: Soichiro
authors.initials: S
authors.lastname: Tanaka
authors.forename: Noriko
authors.initials: N
authors.lastname: Togashi
authors.forename: Daiki
authors.initials: D
authors.lastname: Abukawa
authors.forename: Atsushi
authors.initials: A
authors.lastname: Sato
authors.forename: Masue
authors.initials: M
authors.lastname: Imaizumi
authors.forename: Hideto
authors.initials: H
authors.lastname: Yoshikawa
authors.forename: Rumiko
authors.initials: R
authors.lastname: Takayama
authors.forename: Keisuke
authors.initials: K
authors.lastname: Wakusawa
authors.forename: Satoru
authors.initials: S
authors.lastname: Kobayashi
authors.forename: Ikuko
authors.initials: I
authors.lastname: Sato
authors.forename: Akira
authors.initials: A
authors.lastname: Onuma
mesh_terms: D000015:Abnormalities, Multiple; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000150:complications*; D003711:Demyelinating Diseases / Q000209:etiology*; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000209:etiology*; D006228:Hand Deformities, Congenital / Q000150:complications*; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008279:Magnetic Resonance Imaging; D008297:Male; D009264:Nails, Malformed / Q000150:complications*