title: West syndrome in a patient with Schinzel-Giedion syndrome.
abstract: Schinzel-Giedion syndrome is a rare recognizable malformation syndrome defined by characteristic facial features, profound developmental delay, severe growth failure, and multiple congenital anomalies. The causative gene of Schinzel-Giedion syndrome, SETBP1, has been identified, but limited cases have been confirmed by molecular analysis. We present a 9-month-old girl affected by West syndrome with Schinzel-Giedion syndrome. Congenital severe hydronephrosis, typical facial features, and multiple anomalies suggested a clinical diagnosis of Schinzel-Giedion syndrome. Hypsarrhythmia occurred at 7 months of age and was temporarily controlled by adrenocorticotropic hormone (ACTH) therapy during 5 weeks. SETBP1 mutational analysis showed the presence of a recurrent mutation, p.Ile871Thr. The implications in management of Schinzel-Giedion syndrome are discussed.
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Fuyu
authors.initials: F
authors.lastname: Miyake
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Kuroda
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Naruto
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Ikuko
authors.initials: I
authors.lastname: Ohashi
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Kyoko
authors.initials: K
authors.lastname: Takano
authors.affiliation: Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan kkurosawa@kcmc.jp.
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
mesh_terms: D000015:Abnormalities, Multiple / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002352:Carrier Proteins / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004569:Electroencephalography; D005260:Female; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D006728:Hormones / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D009154:Mutation; D009264:Nails, Malformed / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics; D013036:Spasms, Infantile / Q000150:complications* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology
chemical_list: D002352:Carrier Proteins; D006728:Hormones; D009687:Nuclear Proteins; C425066:SETBP1 protein, human; D000324:Adrenocorticotropic Hormone
keywords: SET binding protein 1 (SETBP1); adrenocorticotropic hormone (ACTH); epilepsy