title: A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia.
abstract: Kabuki syndrome is a rare multiple anomaly syndrome characterized by a peculiar face, skeletal and dermatoglyphic anomalies, postnatal growth retardation and mental retardation. We report a case of Kabuki syndrome with unilateral perisylvian cortical dysplasia. This two-year old boy was referred to our hospital at 3-months of age for his growth retardation and muscle hypotonia. Because of his peculiar face, brachydactyly V and fingertip pad, we diagnosed him as having Kabuki syndrome. His MRI revealed cortical dysplasia along the left sylvian fissure. However, neither epileptic seizures nor epileptiform discharges on electroencephalogram were observed. Cortical dysplasia is a relatively rare brain malformation among the central nervous system anomalies accompanying with this syndrome. We have to take into consideration the likely onset of epilepsy in this patient because it is one of the most frequent neurological consequences of cortical dysplasia.
authors.affiliation: Department of Pediatrics, Shiga University of Medical Science, Japan. yoshioka1974830@yahoo.co.jp
authors.forename: Seiichiro
authors.initials: S
authors.lastname: Yoshioka
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Takano
authors.forename: Kumiko
authors.initials: K
authors.lastname: Matsuwake
authors.forename: Tatsuyuki
authors.initials: T
authors.lastname: Sokoda
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Takeuchi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities; D006402:Hematologic Diseases / Q000150:complications / Q000175:diagnosis; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications* / Q000175:diagnosis; D015837:Vestibular Diseases / Q000150:complications / Q000175:diagnosis