Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome.
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.
Powell
H W R
HW
Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, UK.
Hart
P E
PE
Sisodiya
S M
SM
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