Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome.

TitleEpilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2003
AuthorsPowell HWR, Hart PE, Sisodiya SM
JournalDevelopmental medicine and child neurology
Volume45
Issue12
Pagination841-3
Date Published2003 Dec
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 cardinali features (typical faciesi, 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 bilaterali perisylvian polymicrogyriai on MRI: the first reported case of this association. The aetiology of the syndrome, including the diverse genetic changes recognized, is then discussed.

Alternate JournalDev Med Child Neurol
Citation Key14667078