title: A case of Kabuki syndrome presenting West syndrome.
abstract: A 6-month-old girl visited our hospital because of mental retardation, regression, and tonic spasms in cluster. We diagnosed her as West syndrome because of hypsarrhythmia on electroencephalogram (EEG) and tonic spasms in cluster. We also diagnosed her as Kabuki syndrome because of multiple malformations, especially a characteristic peculiar face (resembling a Kabuki actor). She was first administered clonazepam, but this was not effective. Later, she was administered vitamin B6, valproic acid, and zonisamide. Zonisamide was effective, and her tonic spasms were suppressed. Her EEG at 9 months of age showed the disappearance of hypsarrhythmia and sporadic spike and wave complexes on P3, P4, O1, and O2. At 2 years of age, she still showed mental retardation, despite the good control of West syndrome. To the best of our knowledge, Kabuki syndrome presenting West syndrome has been reported in only one previous case. We must pay attention to the occurrence of West syndrome in Kabuki syndrome.
authors.affiliation: Department of Pediatrics, Institute of Health Biosciences, The University of Tokushima Graduate School, Japan. michiito@lime.ocn.ne.jp
authors.forename: Hiromichi
authors.initials: H
authors.lastname: Ito
authors.forename: Kenji
authors.initials: K
authors.lastname: Mori
authors.forename: Nami
authors.initials: N
authors.lastname: Inoue
authors.forename: Shoji
authors.initials: S
authors.lastname: Kagami
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology / Q000503:physiopathology*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications* / Q000473:pathology; D013036:Spasms, Infantile / Q000150:complications* / Q000473:pathology