title: Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome.
abstract: Kabuki syndrome is a dysmorphogenic syndrome which has been reported in over 300 patients since it was first described in Japan in 1981. In addition to its cardinal features (typical facies, mild-to-moderate learning disability, short stature, skeletal anomalies, and dermatoglyphic abnormalities with persistent foetal fingerpads), neurological anomalies are frequently reported, including epilepsy in 8% of those with the syndrome. We present here a 22-year-old white female patient with refractory partial epilepsy, Kabuki syndrome, and bilateral perisylvian polymicrogyria on MRI: the first reported case of this association. The aetiology of the syndrome, including the diverse genetic changes recognized, is then discussed.
authors.affiliation: Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, UK.
authors.forename: H W R
authors.initials: HW
authors.lastname: Powell
authors.forename: P E
authors.initials: PE
authors.lastname: Hart
authors.forename: S M
authors.initials: SM
authors.lastname: Sisodiya
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D004827:Epilepsy / Q000209:etiology*; D005260:Female; D006801:Humans; D007859:Learning Disabilities; D008279:Magnetic Resonance Imaging / Q000379:methods; D009190:Myelodysplastic Syndromes / Q000150:complications* / Q000235:genetics; D009421:Nervous System Malformations / Q000209:etiology*; D009460:Neurologic Examination