Kabuki syndrome and perisylvian cortical dysplasia in a Turkish girl

Abstract

Kabuki syndrome (KS) comprises a unique facial pattern with large palpebral fissures, malar flattening and everted lower eyelids, postnatal growth deficiency, skeletal anomalies, dermatoglyphic abnormalities, and mental retardation. Visceral anomalies such as congenital heart defects and urinary tract anomalies have also been reported.[1] KS was described independently by Niikawa et al.[2] and Kuroki et al.[3] A majority of cases have been reported from Japan,[4] but patients are found in other ethnic groups as well.[5,6] Neurologic anomalies are frequently reported for KS, although cortical dysplasia is uncommon. Here, we report a 5-year, 7-month-old female patient with KS who had perisylvian cortical dysplasia. To our knowledge, this is the first Turkish case of KS to present with unilateral perisylvian cortical dysplasia.