Long-term outcome of epilepsy in Kabuki syndrome.

TitleLong-term outcome of epilepsy in Kabuki syndrome.
Publication TypeJournal Article
Year of Publication2011
AuthorsVerrotti A, Agostinelli S, Cirillo C, D'Egidio C, Mohn A, Boncimino A, Coppola G, Spalice A, Nicita F, Pavone P, Gobbi G, Grosso S, Chiarelli F, Savasta S
JournalSeizure : the journal of the British Epilepsy Association
Date Published2011 Oct

PURPOSES AND METHODS: Kabuki syndrome (KS) is a rare dysmorphic disorder characterized by multiple congenitali 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-occipitali areas. Seven children had no central nervous system abnormalities, but enlargement of laterali ventricles, corpus callosumi hypoplasiai, 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.

Alternate JournalSeizure
Citation Key938
PubMed ID21741276