title: Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation.
abstract: We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha 1 (COL4A1) mutation. A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance imaging detected no porencephaly, and she had no cataract or renal abnormality. Following a presurgical evaluation for epilepsy, she underwent a functional hemispherectomy. She has been seizure free with no intracranial hemorrhage or other perioperative complications. Patients with a COL4A1 mutation have an increased risk for intracranial hemorrhage because of disrupted integrity in the vascular basement membrane due to the mutation. After weighing the risks and benefits to these patients, epilepsy surgery may not be absolutely contraindicated. Furthermore, pediatric neurologists should be aware of an undiagnosed COL4A1 mutation when a patient presents with an unexplained neurological phenotype, such as mild hemiparesis, even in the absence of porencephaly.
authors.affiliation: Center for Genomic Medicine, Tohoku University Hospital, Sendai, Japan; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. Electronic address: naomi-h@zc4.so-net.ne.jp.
authors.forename: Naomi
authors.initials: N
authors.lastname: Hino-Fukuyo
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Atsuo
authors.initials: A
authors.lastname: Kikuchi
authors.affiliation: Department of Neurosurgery, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Iwasaki
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Sato
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Yuki
authors.initials: Y
authors.lastname: Kubota
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Tomoko
authors.initials: T
authors.lastname: Kobayashi
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Tojo
authors.initials: T
authors.lastname: Nakayama
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan; Department of Neurology, Miyagi Children's Hospital, Sendai, Japan.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Haginoya
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Natsuko
authors.initials: N
authors.lastname: Arai-Ichinoi
authors.affiliation: Center for Genomic Medicine, Tohoku University Hospital, Sendai, Japan; Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Niihori
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Ryo
authors.initials: R
authors.lastname: Sato
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Tasuku
authors.initials: T
authors.lastname: Suzuki
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kudo
authors.affiliation: Division of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Ryo
authors.initials: R
authors.lastname: Funayama
authors.affiliation: Division of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Keiko
authors.initials: K
authors.lastname: Nakayama
authors.affiliation: Center for Genomic Medicine, Tohoku University Hospital, Sendai, Japan; Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Aoki
authors.affiliation: Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Shigeo
authors.initials: S
authors.lastname: Kure
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000503:physiopathology / Q000601:surgery; D002675:Child, Preschool; D024141:Collagen Type IV / Q000235:genetics*; D004827:Epilepsy / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology / Q000601:surgery*; D005260:Female; D038421:Hemispherectomy; D006801:Humans; D009154:Mutation; D016896:Treatment Outcome
chemical_list: C547475:COL4A1 protein, human; D024141:Collagen Type IV
keywords: COL4A1; Epileptic encephalopathy; Functional hemispherectomy; Hemiplegia; Infantile spasms; Porencephaly