title: Long-term outcome of epilepsy in Kabuki syndrome.
abstract: PURPOSES AND METHODS: Kabuki 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.
  
  
  RESULTS
  All 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.
  
  
  CONCLUSIONS
  Partial 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.
authors: Department of Pediatrics, University of Chieti, Via dei Vestini 5, 66100 Chieti, Italy.
authors: Alberto
authors: A
authors: Verrotti
authors: Sergio
authors: S
authors: Agostinelli
authors: Chiara
authors: C
authors: Cirillo
authors: Claudia
authors: C
authors: D'Egidio
authors: Angelika
authors: A
authors: Mohn
authors: Agata
authors: A
authors: Boncimino
authors: Giangennaro
authors: G
authors: Coppola
authors: Alberto
authors: A
authors: Spalice
authors: Francesco
authors: F
authors: Nicita
authors: Piero
authors: P
authors: Pavone
authors: Giuseppe
authors: G
authors: Gobbi
authors: Salvatore
authors: S
authors: Grosso
authors: Francesco
authors: F
authors: Chiarelli
authors: Salvatore
authors: S
authors: Savasta
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000503:physiopathology; D002648:Child; D004569:Electroencephalography / Q000639:trends; D004827:Epilepsy / Q000150:complications* / Q000175:diagnosis* / Q000503:physiopathology; D005145:Face / Q000002:abnormalities / Q000503:physiopathology; D005260:Female; D006402:Hematologic Diseases / Q000150:complications* / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D008297:Male; D013997:Time Factors; D016896:Treatment Outcome; D015837:Vestibular Diseases / Q000150:complications* / Q000175:diagnosis* / Q000503:physiopathology