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Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome

Published online by Cambridge University Press:  25 November 2003

H W R Powell
Affiliation:
Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK.
P E Hart
Affiliation:
National Hospital for Neurology and Neurosurgery, UK.
S M Sisodiya
Affiliation:
Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK.
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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.

Type
Case Report
Copyright
© 2003 Mac Keith Press

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