Long-term outcome of epilepsy in Kabuki syndrome |
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Authors: | Alberto Verrotti Sergio Agostinelli Chiara Cirillo Claudia D’Egidio Angelika Mohn Agata Boncimino Giangennaro Coppola Alberto Spalice Francesco Nicita Piero Pavone Giuseppe Gobbi Salvatore Grosso Francesco Chiarelli Salvatore Savasta |
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Institution: | aDepartment of Pediatrics, University of Chieti, Via dei Vestini 5, 66100 Chieti, Italy;bDepartment of Pediatrics, University of Pavia, Pavia, Italy;cDepartment of Child Neuropsychiatry, Second University of Napoli, Napoli, Italy;dDepartment of Pediatrics, University of Rome “La Sapienza”, Rome, Italy;eDepartment of Clinical Pediatrics, Department of Pediatrics, University of Catania, Catania, Italy;fDepartment of Child Neuropsychiatry, Maggiore Hospital, Bologna, Italy;gDepartment of Pediatrics, University of Siena, Siena, Italy |
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Abstract: | Purposes and methodsKabuki syndrome (KS) is a rare dysmorphic disorder characterized by multiple congenital anomalies and mental retardation. Although epilepsy is one of the most common clinical complications associated with KS, few studies have evaluated its electroclinical aspects and long-term outcome. Therefore, we describe here a clinical series of 10 Caucasian KS patients who developed epilepsy in childhood. We followed all children for at least 5 years.ResultsAll patients presented partial seizures and interictal EEGs revealed focal epileptic paroxysms with prevalent involvement of temporo-occipital areas. Seven children had no central nervous system abnormalities, but enlargement of lateral ventricles, corpus callosum hypoplasia, and adenohypophysis hypoplasia were revealed in three. Although antiepileptic drug (AED) treatment was effective in controlling seizures and normalizing EEG abnormalities in 8 patients, the other 2 cases were resistant to multiple AEDs. In one of these two patients, withdrawal of AED resulted in status epilepticus and death.ConclusionsPartial seizures and temporo-occipital abnormalities on interictal EEG are common features of KS patients who suffer from epilepsy. Prognosis of this epilepsy is favourable in the majority of cases with complete disappearance of seizures and EEG abnormalities. |
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Keywords: | Kabuki Syndrome Partial epilepsy Antiepileptic drug Long-term outcome |
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